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1.  Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India 
Background:
Progressive cerebellar ataxia inherited by autosomal dominant transmission is known as Spino Cerebellar Ataxia (SCA).
Aims and Objectives:
To look for various clinical profile and molecular genetics of patients with SCAs and their phenotype-genotype correlation of patients with SCAs.
Materials and Methods:
This was a cross-sectional study conducted at Bangur Institute of Neurosciences, Kolkata from June 2010 to April 2013. We selected patients from the neurogenetic clinic of our institute and performed genetic test for SCA 1, 2, 3, 6 and 12. The diagnosis was based on suggestive clinical features and positive genetic study, done by polymerase chain reaction.
Results:
83 patients were tested for trineucleotide repeats and turned out 45 positive for the mentioned SCAs. We found 13(28.9%) SCA-1, 18(40%) SCA-2, 7(15.6%) SCA-3, 6(13.3) SCA-6 and 1(2.2%) SCA-12 patients. Half of the remaining 38 patients had positive family history. The mean age of onset were 38.46 years in SCA-1, 29.55 years in SCA-2, 38.43 years in SCA-3, 47.33 years in SCA-6. Slow saccades were observed in 7(53.8%) SCA-1, 17(94.4%) SCA-2, 4(57.1%) SCA-3, 3(50%) SCA-6 patients. Hyporeflexia was noticed in 5(27.8%) SCA-2 patients. Pyramidal tract involvement was found in 8(61.5%) SCA-1, 4(22.2%) SCA-2, 4(57.1%) SCA-3 and 1(16.7%) SCA-6 patients.
Conclusion:
Our study showed SCA-2 is the most common variety of SCA and genotypic-phenotypic correlation was observed in SCA-1,2,6 and 12 patients.
doi:10.4103/0972-2327.144005
PMCID: PMC4251010  PMID: 25506158
SCA; SCA genetics; spinocerebellar ataxia; spinocerebellar ataxia genetics
2.  Posterior quadrant disconnection for refractory epilepsy: A case series 
Objective:
To analyze the surgical outcome and safety of posterior quadrant disconnection in medically refractory epilepsy arising from the posterior head region from a level IV tertiary care center over a period of three years.
Materials and Methods:
Seven consecutive patients who underwent posterior quadrant disconnection for refractory epilepsy were analyzed.
Results:
We analyzed the data of seven (n = 7) consecutive posterior quadrant epilepsy patients who underwent posterior quadrant disconnection with a mean age of 8.5 years over the last three years of which 4 were male and 3 females. All patients underwent extensive pre-surgical evaluation including detailed history, examination, prolonged video EEG recordings, neuropsychological testing, MRI brain, DTI, PET scan (n = 6), fMRI (n = 4), WADA test (n = 1) and invasive recording (n = 1), Of seven patients four had left sided pathology and three had right sided pathology. All patients except one underwent pure disconnection and one underwent partial resection.
Conclusion:
Posterior quadrant disconnection is effective surgical procedure for medically refractory epilepsy arising from the posterior quadrant in carefully selected patients without morbidity or functional disability across various age groups especially in children. In our series, all seven patient had good seizure outcome and none had functional disabilities.
doi:10.4103/0972-2327.144006
PMCID: PMC4251011  PMID: 25506159
Posterior quadrant disconnection; posterior quadrant dysplasia; posterior quadrant epilepsy; refractory epilepsy
3.  Low plasma antioxidant status in patients with epilepsy and the role of antiepileptic drugs on oxidative stress 
Background:
Oxidative stress has been implicated in various disorders including epilepsy. We studied the antioxidant status in patients with epilepsy and aimed at determining whether there was any difference in the antioxidant levels between patients and controls, patients who are not on antiepileptic drugs (AEDs), and on treatment, between individual AEDs and patients on monotherapy and polytherapy.
Materials and Methods:
Antioxidant levels like catalase, glutathione peroxidase (GPx), vitamin E, glutathione (GSH), thiol group (SH), uric acid, and total antioxidant capacity (TAC) were compared between 100 patients with epilepsy and equal number of controls. Twenty-five patients who were not on AEDs were compared with patients on AEDs and the control group. Patients were divided into monotherapy and polytherapy group and antioxidant status was compared between the two groups and between individual drugs.
Results:
Catalase, SH, vitamin E, and TAC were significantly low in patients with epilepsy than those in the control group (P < 0.001). GSH and uric acid did not show any difference; GPx in patients was significantly higher than those in the control group There were no differences in the antioxidant levels between the treated and the untreated groups; however, it was lower in untreated patients than controls (P < 0.001), suggesting that AEDs do not modify the oxidative stress. Patients on Valproate (VPA) showed higher catalase and GPx levels. Catalase was higher in the monotherapy than polytherapy group (P < 0.04).
Conclusion:
Our study found significantly low levels of antioxidant in patients as compared to controls. AED did not influence the antioxidant status suggesting that seizures induce oxidative stress.
doi:10.4103/0972-2327.144008
PMCID: PMC4251012  PMID: 25506160
Antiepileptic drugs; catalase; epilepsy; glutathione; glutathione peroxidase; seizures; thiol goup; total antioxidant capacity; uric acid; vitamin E
4.  What patients do to counteract the symptoms of Willis-Ekbom disease (RLS/WED): Effect of gender and severity of illness 
Objectives:
This study was carried out to assess different counteracting strategies used by patients with idiopathic Willis-Ekbom disease (RLS/WED). Whether these strategies were influenced by gender or disease severity was also assessed.
Materials and Methods:
A total of 173 patients of idiopathic RLS/WED were included in this study. Their demographic data was recorded. Details regarding the RLS/WED and strategies that they used to counteract the symptoms were asked. The severity of RLS/WED was measured with the help of the Hindi version of international restless legs syndrome severity rating scale. They were asked to provide the details regarding the relief obtained from all the strategies they used on three-point scale: no relief, some relief, and complete relief.
Results:
Of the patients, 72% were females. Mean age of the subjects in this study was 39.6 ± 12.6 years, and male subjects were older than females. Four common strategies were reported by the patients to counter the sensations of RLS/WED: moving legs while in bed (85.5%), asking somebody to massage their legs or massaging legs themselves (76.9%), walking (53.2%), and tying a cloth/rope tightly on the legs (39.3%). Of all the patients who moved their legs, 6.7% did not experience any relief, 64.2% reported some relief, and 28.4% reported complete relief. Similarly, of all the patients who used “walking” to counteract symptoms, 50% reported complete relief, 44.5% reported some relief, and the rest did not experience any relief. Many of these patients reported that massage and tying a cloth/rope on legs brought greater relief than any of these strategies. Tying cloth on the leg was more common among females as compared to males (45.9% females vs. 23.5% males; χ2 = 7.54; P = 0.006), while patients with moderately severe to severe RLS/WED reported “moving legs in bed” (79.3% in mild to moderate RLS/WED; 91.8% in severe to very severe RLS; χ2 = 5.36; P = 0.02).
Conclusion:
Patients with RLS/WED use a variety of strategies to counteract symptoms. These strategies may be influenced by gender, disease severity, and cultural practices.
doi:10.4103/0972-2327.144010
PMCID: PMC4251013  PMID: 25506161
Counter-acting strategies; gender; severity; Willis-Ekbom disease (RLS/WED)
5.  Magnitude of peripheral neuropathy in cirrhosis of liver patients from central rural India 
Context:
Cirrhosis of liver is an important cause of morbidity and mortality and if associated with peripheral neuropathy (PN) it also poses a huge financial, psychological burden for the patients and their families.
Aim:
The aim of the present study was to study the magnitude of PN among subjects with cirrhosis of liver presenting to tertiary care teaching hospital in central rural India.
Settings and Design:
A cross-sectional study was performed in a tertiary care teaching hospital.
Materials and Methods:
In all patients of cirrhosis of liver irrespective of etiology, aged 15 and above, undergone clinical assessment for peripheral nervous systems damage and confirmed by nerve conduction studies.
Statistical Analysis Used:
We used chi square test to study associations. P value ≤0.05 was considered as significant. Crude odds ratios were computed to assess the strength of association between independent variables and dependent variables along with their 95% confidence intervals.
Results:
We included 207 of cirrhosis of liver patients admitted in medicine department from November 2010 through November 2013. Nearly 83% patients were male and 63.2% patients were under the age of 45 years. Common features in these patients were ascites (71%) splenomegaly (63.3%) pedal edema (61.4%) icterus (46.4%) tingling (44.9%) gastrointestinal bleeding(39.1%), ataxia (26.6%), numbness(26.6%), distal motor weakness (21.7%) and paresthesia(20.8%). Among the manifestation of peripheral nerve involvement, loss of ankle reflex was the most common feature in 51.7%, followed by loss of temperature sense 29.5%, loss of vibration sense 20.8%, loss of touch 16.4%, loss of position sense 14.5% and loss of pain in 6.3% of the patients. Peripheral neuropathy was found in 53.6% [95% CI: 46.58- 60.56] study subjects on electrophysiological study.
Conclusions:
Analysis of electrophysiological study shows that the PN is very common in study subjects with cirrhosis of liver, especially in male subjects, during the middle age group.
doi:10.4103/0972-2327.144012
PMCID: PMC4251014  PMID: 25506162
Chronic liver disease; cirrhosis of liver; nerve conduction studies; peripheral neuropathy
6.  Sleep disturbances in drug naïve Parkinson's disease (PD) patients and effect of levodopa on sleep 
Context:
Parkinson's disease (PD) is associated with sleep disturbances, attributed to the neurodegenerative process and therapeutic drugs. Studies have found levodopa to increase wakefulness in some patients while increasing sleepiness in others.
Aims:
To confirm sleep disturbances in drug naïve PD patients and understand the impact of levodopa on their sleep.
Materials and Methods:
Twenty-three drug naïve PD patients and 31 age-gender matched controls were compared using the Parkinson's Disease Sleep Scale (PDSS) and Epworth Sleepiness Scale (ESS). A polysomnogram objectively compared sleep quality. Of the 23 patients, the 12 initiated on levodopa were reassessed subjectively and through polysomnography after 2 months of therapy.
Statistical Analysis:
Data was expressed as mean ± standard deviation, median, and range. Continuous variables were analyzed by Student's T test for normally distributed data and Mann–Whitney U test for skewed data. Discrete variables were compared by Chi Square tests (Pearson Chi square Test or Fisher's Exact Test). Wilcoxon signed ranks test was applied in the analysis of paired data pre- and post-levodopa. A P value < 0.05 was considered as statistically significant. Statistical analysis of the data was done using the Statistical Package for the Social Sciences (SPSS) version 12.
Results:
Drug naïve PD patients had lower PDSS scores than controls. The sleep architecture changes observed on polysomnogram were reduced NREM Stage III and REM sleep and increased sleep latency and wake after sleep onset time. Following levodopa, improved sleep efficiency with reduced sleep latency and wake after sleep onset time was noted, coupled with improved PDSS scores. However, NREM Stage III and REM sleep duration did not increase.
Discussion:
PD patients take longer to fall asleep and have difficulty in sleep maintenance. Sleep maintenance is affected by nocturia, REM behavioral disorder, nocturnal cramps, akinesia, and tremors, as observed in PDSS scores. Levodopa improves sleep efficiency by improving motor scores without altering sleep architecture.
Conclusions:
Poor sleep quality and sleep architecture changes occur secondary to the neurodegenerative process in PD patients. Though levodopa improves sleep quality by reducing rigidity and tremor, it does not reverse sleep architecture changes.
doi:10.4103/0972-2327.144016
PMCID: PMC4251015  PMID: 25506163
Levodopa on Parkinson's disease sleep; levodopa on sleep; sleep in Parkinson's disease
7.  A pilot study on utility of Malayalam version of Addenbrooke's Cognitive Examination in detection of amnestic mild cognitive impairment: A critical insight into utility of learning and recall measures 
Aims:
This pilot study sought to determine whether the Malayalam adaptation of Addenbrooke's Cognitive Examination (M-ACE) can effectively identify patients with amnestic mild cognitive impairment (a-MCI) and the impact of measures of learning and free recall.
Materials and Methods:
A cohort of 23 patients with a-MCI aged between 55-80 years diagnosed as per current criteria and 23 group matched cognitively normal healthy controls (CNHC) were studied. The measures of acquisition and delayed recall were the Rey Auditory Verbal Learning Test (RAVLT) and Wechsler Memory Scale (WMS)-III (verbal and visual subsets) and Delayed Matching-to-sample Test (DMS)-48. Test scores of M-ACE registration and recall scores were included. To examine the differences in test performances between the groups, we compared the number of subjects with test scores less than 1.5 standard deviation (SD) of the control scores. Comparisons between a-MCI and controls were drawn using Fisher's exact test and Mann-Whitney U tests.
Results:
M-ACE registration component ascertained on a 24-point scale failed to demonstrate any differences between a-MCI and controls (P = 0.665) as opposed to recall judged on a cumulative 10-point scale (P = 0.001). Significant differences were noted in RAVLT list learning (P < 0.001) and list recall (P = 0.003), WMS-III paragraph learning (P <0.001) and recall (P = 0.007), visual learning (P = 0.004) and recall (P = 0.001).
Conclusions:
M-ACE recall scores are an effective screening tool to identify patients with suspected a-MCI. Both word list and paragraph learning and recall components have been found to be sensitive to concretely identify a-MCI and impairment on at least 2 tests should be considered in the diagnostic criteria of MCI rather than rely on a single screening battery.
doi:10.4103/0972-2327.144018
PMCID: PMC4251016  PMID: 25506164
Learning; mild cognitive impairment; neuropsychology; recall
8.  Recurrence rate of seizure following discontinuation of anti-epileptic drugs in patients with normal long term electroencephalography 
Background:
The usefulness of electroencephalography (EEG) in predicting seizure recurrence after antiepileptic drugs (AED) tapering is a controversial subject. There have been no studies which tested the additional yield of long-term over routine EEG recordings in predicting seizure recurrence after AED withdrawal.
Objective:
The primary objective of our study is to determine the recurrence rate of seizure following AED withdrawal in patients with focal epilepsy, unknown cause who had normal long-term electroencephalography (LTEEG) and secondary objective is to analyze the variables that would predict seizure recurrence.
Materials and Methods:
This was a prospective observational study. A total of 91 patients were included. 62 patients who had normal routine and LTEEG entered the final phase of the study were followed-up regularly for 1 year or until seizure recurrence whichever was earlier.
Results:
A total number of 91 patients were enrolled for the first phase of the study. Of these, 13 (14.29%) patients had an abnormal routine EEG. Of the remaining patients, another 16 (17.58%) had abnormal LTEEG. The remaining 62 patients with normal routine and long-term EEG entered the final phase of the study. Of these, 17 patients (27.41%) had seizure recurrence during the follow-up while 45 (72.58%) remained seizure free until the end of the 1 year follow-up. The significant variables associated with a higher risk of seizure relapse were a positive past history of seizure recurrence on prior drug withdrawal (relative risk: 2.19, confidence interval: 1.01-4.74, P < 0.05) and the duration of epilepsy until seizure control was achieved (P < 0.009).
Conclusions:
The recurrence rate of seizure in patients with a normal LTEEG is 27.41%. A positive past history of seizure recurrence and a longer time to achieve seizure freedom with AED increased the risk of seizure recurrence.
doi:10.4103/0972-2327.138492
PMCID: PMC4162012  PMID: 25221395
Antiepileptic drugs; electroencephalography; epilepsy
9.  Pharmacogenetic evaluation of ABCB1, Cyp2C9, Cyp2C19 and methylene tetrahydrofolate reductase polymorphisms in teratogenicity of anti-epileptic drugs in women with epilepsy 
Aim:
Pregnancy in women with epilepsy (WWE) who are on anti-epileptic drugs (AEDs) has two- to three-fold increased risk of fetal malformations. AEDs are mostly metabolized by Cyp2C9, Cyp2C19 and Cyp3A4 and transported by ABCB1. Patients on AED therapy can have folate deficiency. We hypothesize that the polymorphisms in ABCB1, Cyp2C9, Cyp2C19 and methylene tetrahydrofolate reductase (MTHFR) might result in differential expression resulting in differential drug transport, drug metabolism and folate metabolism, which in turn may contribute to the teratogenic impact of AEDs.
Materials and Methods:
The ABCB1, Cyp2C9, Cyp2C19 and MTHFR polymorphisms were genotyped for their role in teratogenic potential and the nature of teratogenecity in response to AED treatment in WWE. The allelic, genotypic associations were tested in 266 WWE comprising of 143 WWE who had given birth to babies with WWE-malformation (WWE-M) and 123 WWE who had normal offsprings (WWE-N).
Results:
In WWE-M, CC genotype of Ex07 + 139C/T was overrepresented (P = 0.0032) whereas the poor metabolizer allele *2 and *2 *2 genotype of CYP2C219 was significantly higher in comparison to WWE-N group (P = 0.007 and P = 0.005, respectively). All these observations were independent of the nature of malformation (cardiac vs. non cardiac malformations).
Conclusion:
Our study indicates the possibility that ABCB1 and Cyp2C19 may play a pivotal role in the AED induced teratogenesis, which is independent of nature of malformation. This is one of the first reports indicating the pharmacogenetic role of Cyp2C19 and ABCB1 in teratogenesis of AED in pregnant WWE.
doi:10.4103/0972-2327.138475
PMCID: PMC4162009  PMID: 25221392
ABCB1; anti-epileptic drugs; Cyp2C19; Cyp2C9; epilepsy; methylene tetrahydrofolate reductase; pharmacogenomics; South India; teratogenic
10.  Hippocampal volumetry: Normative data in the Indian population 
Background:
Mesial temporal sclerosis (MTS) is the most common cause of temporal lobe epilepsy. Quantitative analysis of the hippocampus using volumetry is commonly being used in the diagnosis of MTS and is being used as a marker in prognostication of seizure control. Although normative data for hippocampal volume (HV) is available for the western population, no such data is available for the Indian population.
Aim:
The aim of the study was to establish normative data for HV for the Indian population, which can aid in the accurate diagnosis of MTS.
Materials and Methods:
Magnetic resonance imaging (MRI) scans of 200 healthy volunteers were acquired using a 3 Tesla (3T) MRI scanner. Manual segmentation and volumetry was done using Siemens Syngo software. The data was analyzed using two tailed t-test to detect associations between HV and age, gender, and education. The data so obtained was also correlated with the data available from the rest of the world.
Results:
A mean HV of 2.411 cm3 (standard deviation -0.299) was found in the study, which was significantly smaller when compared to the data from the western population. The right hippocampus was larger than the left, with a mean volume of 2.424 cm3 and 2.398 cm3, respectively. HV was detected to be significantly higher in males. No association was found between HV and age and education.
Conclusion:
The values obtained in this study may be adopted as a standard in the evaluation of patients with intractable epilepsy.
doi:10.4103/0972-2327.138482
PMCID: PMC4162010  PMID: 25221393
Manual hippocampal volumetry; manual hippocampal segmentation; mesial temporal sclerosis; normative data
11.  Derangements in bone mineral parameters and bone mineral density in south Indian subjects on antiepileptic medications 
Background:
Although there are reports describing the association of alternations of bone and mineral metabolism in epileptic patients with long-term anticonvulsant therapy, there are only limited Indian studies which have looked at this aspect.
Objectives:
This study was done to compare the prevalence of changes in bone mineral parameters and bone mineral density (BMD) in ambulant individuals on long-term anticonvulsant therapy with age- and body mass index (BMI)-matched healthy controls.
Materials and Methods:
There were 55 men (on medications for more than 6 months) and age- and BMI-matched 53 controls. Drug history, dietary calcium intake (DCI), and duration of sunlight exposure were recorded. Bone mineral parameters and BMD were measured.
Results:
The control group had a significantly higher daily DCI with mean ± SD of 396 ± 91 mg versus 326 ± 101 mg (P = 0.007) and more sunlight exposure of 234 ± 81 vs 167 ± 69 min (P = 0.05). BMD at the femoral neck was significantly lower in cases (0.783 ± 0.105 g/cm2) when compared to controls (0.819 ± 0.114 g/cm2). Majority of the patients (61%) had low femoral neck BMD (P = 0.04). There was no significant difference in the proportion of subjects with vitamin D deficiency (<20 ng/mL) between cases (n = 32) and controls (n = 37) (P = 0.234).
Conclusions:
Vitamin D deficiency was seen in both the groups in equal proportions, highlighting the existence of a high prevalence of this problem in India. Low femoral neck BMD found in cases may stress the need for supplementing calcium and treating vitamin D deficiency in this specific group. However, the benefit of such intervention has to be studied in a larger proportion of epileptic patients.
doi:10.4103/0972-2327.138489
PMCID: PMC4162011  PMID: 25221394
Anticonvulsants; bone mineral density; epilepsy; vitamin D
12.  Major outcomes of patients with tuberculous meningitis on directly observed thrice a week regime 
Background:
Revised National Tuberculosis Control Programme (RNTCP) of Government of India provides intermittent thrice-a-week directly observed treatment short course (RNTCP regimen).
Objective:
Assessments of all-cause mortality and nine-month morbidity outcomes of patients with tuberculous meningitis (TBM) on RNTCP regimen.
Materials and Methods:
We prospectively followed up patients registered with RNTCP center, with a diagnosis of TBM from January 1st, 2010 to December 31st, 2011. Morbidity was assessed using modified Rankin Scale (mRS).
Results:
We had 43 patients with median duration for follow-up of 396 days and that of survivors of 425 days. Two patients defaulted. Fourteen patients (32.5%) had mRS score of 4 to 6 and 29 had mRS of 0 to 3 after 9-month treatment. Severe disability was not related to any factor on logistic regression. Severe disability was seen in one patient (6.66%) among the 15 patients with stage 1, nine (37.5%) out of 24 patients with stage 2 and three (75%) out of 4 patients with stage 3 disease. Eight patients died (18.6%) of whom 4 died during the intensive phase and 4 during the continuation phase of RNTCP regimen. Mortality was independently related to treatment failure with adjusted Hazard ratio of 8.29 (CI: 1.38-49.78) (P = 0.02). One patient (6.66%) died out of the 15 patients with stage 1 disease, 5 (20.8%) out of 24 patients with stage 2 disease and 2 (50%) out of the 4 with stage 3 disease.
Discussion and Conclusion:
RNTCP regimen was associated with good compliance, comparable mortality and morbidity.
doi:10.4103/0972-2327.138496
PMCID: PMC4162013  PMID: 25221396
Meningeal Tuberculosis; morbidity; mortality; prognosis; treatment
13.  Alterations in Polysomnographic (PSG) profile in drug-naïve Parkinson's disease 
Objective:
We studied the changes in Polysomnographic (PSG) profile in drug-naïve patients of Parkinson's disease (PD) who underwent evaluation with sleep overnight PSG.
Materials and Methods:
This prospective study included 30 with newly diagnosed levodopa-naïve patients with PD, fulfilling the UK-PD society brain bank clinical diagnostic criteria (M:F = 25:5; age: 57.2 ± 10.7 years). The disease severity scales and sleep related questionnaires were administered, and then patients were subjected to overnight PSG.
Results:
The mean duration of illness was 9.7 ± 9.5 months. The mean Hoehn and Yahr stage was 1.8 ± 0.4. The mean Unified Parkinson's Disease Rating Scale (UPDRS) motor score improved from 27.7 ± 9.2 to 17.5 ± 8.9 with sustained usage of levodopa. Nocturnal sleep as assessed by Pittsburgh Sleep Quality Index (PSQI) was impaired in 10 (33.3%) patients (mean PSQI score: 5.1 ± 3.1). Excessive day time somnolence was recorded in three patients with Epworth Sleepiness Scale (ESS) score ≥ 10 (mean ESS score: 4.0 ± 3.4). PSG analysis revealed that poor sleep efficiency of <85% was present in 86.7% of patients (mean: 68.3 ± 21.3%). The latencies to sleep onset (mean: 49.8 ± 67.0 minutes) and stage 2 sleep (36.5 ± 13.1%) were prolonged while slow wave sleep was shortened. Respiration during sleep was significantly impaired in which 43.3% had impaired apnoea hyperpnoea index (AHI) ≥5, mean AHI: 8.3 ± 12.1). Apnoeic episodes were predominantly obstructive (obstructive sleep apnea, OSA index = 2.2 ± 5.1). These patients had periodic leg movement (PLM) disorder (56.7% had PLM index of 5 or more, mean PLMI: 27.53 ± 4 9.05) that resulted in excessive daytime somnolence.
Conclusions:
To conclude, sleep macro-architecture is altered in frequently and variably in levodopa-naïve patients of PD and the alterations are possibly due to disease process per se.
doi:10.4103/0972-2327.138501
PMCID: PMC4162014  PMID: 25221397
Drug-naïve PD; sleep disorders; Parkinson's disease; polysomnography; questionnaire study
14.  Movement disorders of probable infectious origin 
Background:
Movement disorders (MDs) associated with infections remains an important debilitating disorder in the Asian countries.
Objectives:
The objective of the following study is to report the clinical and imaging profile of a large cohort of patients with MDs probably associated with infection.
Materials and Methods:
This was a chart review of 35 patients (F:M-15:20) presenting with MD in the Neurology services of National Institute of Mental Health and Neurosciences, India. The demographic profile, type of infection, time from infection to MD, phenomenology of MD and magnetic resonance imaging (MRI) findings were reviewed.
Results:
The mean age at presentation was 22.6 ± 13.3 years, (5-60), age of onset of MD was 15.7 ± 15 years, and duration of symptoms was 6.9 ± 8.1 years (42 days to 32 years). The mean latency of onset of MD after the infection was 5.9 ± 4.2 weeks. The phenomenology of MD were: (1) Pure dystonia-28.6%, (2) dystonia with choreoathetosis-22.9%, (3) Parkinsonism-14.6%, (4) pure tremor, hemiballismus, myoclonus and chorea-2.9% each, and (5) mixed MD-22.9%. Most often the MD was generalized (60%), followed by right upper limb (31.4%) and left upper limb (8.6%). A viral encephalitic type of neuroinfection was the most common infection (85.7%), which was associated with MD. Abnormalities of brain MRI, seen in 79.2%, included signal changes in (1) thalamus-52.0%, (2) putamen and subcortical white matter-16% each, (3) pons-12%, (4) striatopallidum, striatum and grey matter-8% each, and (5) caudate, cerebellum, lentiform nucleus, midbrain and subthalamic nucleus-4.0% each.
Conclusions:
MDs associated with infection were the most often post-encephalitic. Dystonia was the most common MD, and thalamus was the most common anatomical site involved.
doi:10.4103/0972-2327.138503
PMCID: PMC4162015  PMID: 25221398
Dystonia; myoclonus; neuroinfection; secondary movement disorders; tremor parkinsonism
15.  Myopathies of endocrine disorders: A prospective clinical and biochemical study 
Introduction:
Major categories of endocrine myopathy include those associated with: Adrenal dysfunction (as in Cushing's disease or steroid myopathy); thyroid dysfunction (as in myxedema coma or thyrotoxic myopathy); vitamin D deficiency; parathyroid dysfunction; and pituitary dysfunction. Steroid myopathy is the most common endocrine myopathy.
Objective:
To study the etiology, varied presentations, and outcome after therapy of patients with endocrine myopathies.
Materials and Methods:
Myopathy was evaluated by the standard clinical procedures: Detailed clinical history, manual muscle strength testing, and creatine phosphokinase (CPK). Endocrine disorders were diagnosed as per clinical features and biochemical parameters. The treatment was given to patients as per underlying endocrine disease. Myopathy was assessed before and after treatment.
Results:
Out of the 37 patients who were diagnosed with endocrine myopathies, thyroid dysfunction was the most common cause (17 cases), followed by vitamin D deficiency in nine, adrenal dysfunction in six, parathyroid dysfunction in three, and pituitary dysfunction in two. Some patients had atypical presentation (repeated falls in one, tongue fasciculations in one, neck weakness in five, one with ptosis and facial weakness, asymmetrical onset in one, and calf hypertrophy in one. The serum creatine kinase (CK) concentration did not correlate with muscle weakness. Following the treatment regimen which was specific for a given myopathy, 26 patients recovered fully.
Conclusion:
We found varied clinical presentations of endocrine myopathies. All the patients with neuromuscular complaints should be investigated for endocrine causes because significant number of them recovers fully with specific treatment.
doi:10.4103/0972-2327.138505
PMCID: PMC4162016  PMID: 25221399
Endocrine; myopathy; reversible
16.  Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India 
Objective:
In India, various groups have studied different regions to find out deletion pattern of dystrophin gene. We have investigated its deletion pattern among Duchenne/Becker muscular dystrophy (D/BMD) patients across Gujarat. Moreover, in this study we also correlate the same with reading frame rule. However, we too consider various clinicopathological features to establish as adjunct indices when deletion detection fails.
Materials and Methods:
In this pilot study, a total of 88 D/BMD patients consulting at our centers in Gujarat, India were included. All patients were reviewed on basis of their clinical characteristics, tested by three primer sets of 10-plex, 9-plex, and 7-plex polymerase chain reaction (PCR) for genetic analysis; whereas, biochemical indices were measured using automated biochemical analyzers.
Results:
The diagnosis of D/BMD was confirmed by multiplex-PCR (M-PCR) in D/BMD patients. A number of 65 (73.86%) out of 88 patients showed deletion in dystrophin gene. The exon 50 (58.46%) was the most frequent deletion found in our study. The mean age of onset of DMD and BMD was 4.09 ± 0.15 and 7.14 ± 0.55 years, respectively. In patients, mean creatine phosphokinase (CPK), lactate dehydrogenase (LDH), and myoglobin levels were elevated significantly (P < 0.05) in comparison to controls. Addition to CPK, LDH and myoglobin are good adjunct when deletion detection failed. These data are further in accordance with world literature when correlated with frame rule.
Conclusion:
The analysis has been carried out for the first time for a total of 88 D/BMD patients particularly from Gujarat, India. More research is essential to elucidate specific mutation pattern in association with management and therapies of proband.
doi:10.4103/0972-2327.138508
PMCID: PMC4162017  PMID: 25221400
Duchenne/Becker muscular dystrophy; dystrophin gene; exon deletion
17.  Intergenotypic variation of Vitamin B12 and Folate in AD: In north indian population 
Objectives:
Changes in lifestyle habits such as diet modification or supplementation have been indicated as probable protective factors for a number of chronic conditions including Alzheimer's disease (AD). With this background, we aim to hypothesize that whether C677T polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene contributes towards the risk of developing AD and its association with vitamin B12 and folate levels.
Materials and Methods:
A case-control study comprising of total 200 subjects, within the age group of 50-85 years. Their blood samples were analyzed for serum folate, vitamin B12 levels, and MTHFR C677T polymorphism by restriction fragment length polymorphism (RFLP).
Results:
The mean plasma levels of vitamin B12 and folate were significantly lower in study group when compared to the control group (P < 0.001). Genotypic and allelic frequency of MTHFR gene in both groups was found to be significant (P < 0.05). The intergenotypic variations of vitamin B12 and folate were found to be significant (P < 0.001).
Conclusion:
We concluded that the subjects with homozygous mutated alleles are more prone to AD and also pointed out the influence of presence/absence of MTHFR T allelic variants on serum folate and vitamin B12 levels.
doi:10.4103/0972-2327.138510
PMCID: PMC4162018  PMID: 25221401
Alzheimer's disease; folate; methylenetetrahydrofolate reductase; vitamin B12
18.  Effects of oxysophoridine on amino acids after cerebral ischemic injury in mice 
Background:
Our previous studies demonstrated that oxysophoridine (OSR) had neuroprotective effects on mice through antioxidant and anti-apoptotic mechanisms. In this study, we investigated whether OSR could influence the release of amino acids in ischemic mice brains.
Materials and Methods:
Male ICR mice were scheduled to undergo 2 h middle cerebral artery occlusion (MCAO) and 24 h reperfusion. Before MCAO, mice in corresponding groups were intraperitoneally injected with OSR (62.5, 125 and 250 mg/kg) for seven successive days. After reperfusion, neurological scores were estimated, infarct volume and the brain water content were assessed. The levels of glutamate (Glu), aspartate (Asp), γ-aminobutyric acid (GABA) and Glycine (Gly) were measured by amino acid analyzer.
Results:
OSR significantly decreased neurological scores, reduced infarct volume and the brain water content. After treatment with OSR of 250 mg/kg, the contents of Glu, Asp, GABA and Gly in mice brains could maintain at a normal level compared with MCAO group mice. The Glu/GABA ratio was significantly decreased in OSR group mice.
Conclusion:
These findings indicate that OSR has a protective effect on cerebral ischemic injury and helps to maintain the amino acids homeostasis after reperfusion for a long time.
doi:10.4103/0972-2327.138513
PMCID: PMC4162019  PMID: 25221402
Amino acids homeostasis; cerebral ischemic injury; excitatory amino acids; inhibitory amino acids; oxysophoridine
19.  Varied presentations of moyamoya disease in a tertiary care hospital of north-east India 
Introduction:
Moyamoya disease is a chronic progressive cerebrovascular disorder, characterized by stenosis or occlusion of bilateral internal carotid arteries (ICAs), anterior cerebral arteries (ACAs) and middle cerebral arteries (MCAs), accompanied by a collateral network of vessels formed at the base of the brain. Ischemia and intracranial hemorrhage are the common typical manifestations. However moyamoya disease has been associated with atypical presentations like headache, seizures and involuntary movements. Although frequently reported from Asian countries like Japan, China and Korea, only few studies reported on clinical manifestations of moyamoya disease from India.
Objectives:
To study the varied presentations of moyamoya disease in a tertiary care hospital of north-east India.
Material and Methods:
Relevant investigations were done to rule out other causes of moyamoya syndrome.
Results:
We report 6 cases of moyamoya disease with varied presentations from a tertiary care referral government hospital. Case 1, 2 and 6 presented with alternating hemiparesis. Case 3 had amaurosis fugax. Case 4 had history suggestive of ischemic stroke and presented with hemichorea. Case 4 had focal seizure as the only manifestation. Cases 4 and 5 notably had stenosis of posterior cerebral artery (PCA) in addition to stenosis of bilateral ICAs, ACAs and MCAs.
Conclusion:
Owing to its low incidence in India, moyamoya disease is easily overlooked as a possible diagnosis. However, because of its progressive nature, it is imperative to diagnose this disease early and offer surgical treatment to the patients.
doi:10.4103/0972-2327.138518
PMCID: PMC4162020  PMID: 25221403
Cerebral infarction; moyamoya; transient ischemic attack
20.  Multimodal evoked potentials in spinocerebellar ataxia types 1, 2, and 3 
Aims:
Spinocerebellar ataxias (SCA) are a clinically heterogeneous group of disorders that are characterized by ataxia and an autosomal dominant pattern of inheritance. The aim of our study was to describe the findings of evoked potentials (EPs) among genetically proven SCA types 1, 2, and 3 and to additionally evaluate if EPs can be used to differentiate between them.
Materials and Methods:
Forty-three cases of genetically proven SCA (SCA1 = 19, SCA2 = 13, and SCA3 = 11) were evaluated with median somatosensory-EP (mSSEP), visual-EP (VEP), and brainstem auditory-evoked response (BAER) by standard procedures and compared with normative laboratory data. An EP was considered abnormal if latency was prolonged (>mean + 3 standard deviation (SD) of laboratory control data) or the waveform was absent or poorly defined. The waves studied were as follows: mSSEP - N20, VEP - P100 and BAER - interpeak latency 1-3 and 3-5.
Results:
EPs were abnormal in at least one modality in 90.9% of patients. The most common abnormality was of BAER (86.1%) followed by VEP (34.9%) and mSSEP (30.2%). The degree of abnormality in VEP, mSSEP, and BAER among patients with SCA1 was 42.1, 41.2, and 73.3%, respectively; among patients with SCA2 was 38.5, 27.3, and 100%, respectively; and among patients with SCA3 was 18.2, 37.5, and 88.9%, respectively. The differences between the subgroups of SCAs were not statistically significant.
Conclusions:
BAER was the most frequent abnormality in SCA types 1, 2, and 3; abnormalities of mSSEP were comparable in the three SCAs; whereas, abnormality of VEP was less often noted in SCA3.
doi:10.4103/0972-2327.138519
PMCID: PMC4162021  PMID: 25221404
Brainstem auditory evoked response; evoked potentials; median; posterior tibial; spinocerebellar ataxia; somatosensory evoked potentials; visual evoked potential
21.  Neuropsychiatric profiles in patients with Alzheimer's disease and vascular dementia 
Background/Aims:
The aim of the following study is to compare the behavioral and psychological symptoms of dementia (BPSD) in patients of Alzheimer disease (AD) and vascular dementia (VaD).
Materials and Methods:
We used National Institute of Neurological and Communicative Disorders and Stroke-Alzheimer's Disease and Related Disorders Association criteria for diagnosing AD and National Institute of Neurological Disorders and Stroke-Association International pour la Recherche et l’Enseignement en Neurosciences Criteria for diagnosing VaD. VaD cohort was further subcategorized into small vessel and large vessel disease. The severity of cognitive impairment and the BPSD were studied by means of the Clinical Dementia Rating Scale (CDR) and the Neuropsychiatric Inventory respectively.
Results:
We studied 50 AD and 50 VaD patients of whom 38 were small vessels and 12 were large vessels VaD. The severity of dementia was comparable in both groups. The agitation/aggression, depression/dysphoria, anxiety, apathy/indifference, irritability, aberrant motor behavior, appetite and eating behavior and night-time behaviors occurred significantly more frequently in patients with VaD than AD. We found a weak positive correlation between the CDR score and the number of neuropsychiatric symptoms per patient in both cohorts. Elation/euphoria, agitation/aggression was significantly more frequent in patients with large vessel in comparison to small vessel VaD.
Conclusions:
BPSD are common in both types of dementia and they are more severe in VaD than AD when the groups have similar levels of cognitive impairment.
doi:10.4103/0972-2327.138520
PMCID: PMC4162022  PMID: 25221405
Alzheimer disease; behavioral and psychological symptoms of dementia; neuropsychiatric inventory; small vessel disease; vascular dementia
22.  Prevalence of fatigue in Guillain-Barre syndrome in neurological rehabilitation setting 
Background:
Fatigue contributes significantly to the morbidity and affects the quality of life adversely in Guillain-Barre Syndrome (GBS).
Objective:
To determine the prevalence of fatigue in GBS in neurological rehabilitation setting and to study its clinical correlates.
Materials and Methods:
We performed secondary analysis of data of patients with GBS admitted in neurological rehabilitation ward of a tertiary care centre, recorded at both admission and discharge. Assessment of fatigue was done by Fatigue Severity Scale (FSS), disability-status by Hughe's Disability Scale (HDS), functional-status by Barthel Index, anxiety/depression by Hospital Anxiety Depression Scale, sleep disturbances by Pittsburgh Sleep Quality Index and muscle weakness by Medical Research Council sum scores.
Results:
A total of 90 patients (62 men) with mean age 34 years (95% CI 32.2, 37.7) were included. Median duration of, stay at neurological rehabilitation ward was 30 days, while that of symptoms was 18.5 days. Presence of fatigue at admission (FSS ≥ 4 in 39% patients) was associated with ventilator requirement (P = 0.021) and neuropathic pain (P = 0.03). Presence of fatigue at discharge (FSS ≥ 4 in 12% patients) was associated with disability- HDS (≥3) (P = 0.008), presence of anxiety (P = 0.042) and duration of stay at rehabilitation ward (P = 0.02). Fatigue did not correlate with age, gender, antecedent illness, muscle weakness, depression and sleep disturbances.
Conclusion:
Fatigue is prevalent in GBS during early recovery phase of illness. Despite motor recovery fatigue may persist. Knowledge about fatigue as burden of disease in these patients will improve patient care.
doi:10.4103/0972-2327.138521
PMCID: PMC4162023  PMID: 25221406
Fatigue; Guillain Barre syndrome; rehabilitation
23.  Multipoint incremental motor unit number estimation versus amyotrophic lateral sclerosis functional rating scale and the medical research council sum score as an outcome measure in amyotrophic lateral sclerosis 
Introduction:
Monitoring the disease progression in amyotrophic lateral sclerosis (ALS) is a challenge due to different rates of progression between patients. Besides clinical methods to monitor disease progression, such as the ALS functional rating scale (ALSFRS) and the medical research council (MRC) sum score, quantitative methods like motor unit number estimation (MUNE) are of interest.
Objective:
The objective of the present study is to evaluate the rate of progression in ALS using multipoint incremental MUNE and to compare MUNE, ALSFRS and MRC sum score at baseline and at 6 months for progression of the disease.
Materials and Methods:
Multipoint incremental MUNE using median nerve, ALS-FRS and MRC sum score was carried out in 29 ALS patients at baseline and then at 6 months.
Results:
Of the 29 ALS patients studied, the mean MUNE at baseline was 21.80 (standard deviation [SD]: 19.46, range 4-73), 15.9 in the spinal onset group (SD: 14.60) and 30.16 (SD: 22.89) in the bulbar onset group. Spinal onset patients had 74.02% of baseline MUNE value while bulbar onset patients had only 24.74% baseline value MUNE at 6 months follow-up (Unpaired t-test, P = 0.001). ALSFRS and MRC sum score showed statistically significant decline (P < 0.001) at 6 months follow-up. MUNE had the highest sensitivity for progression of the disease when compared to the ALS FRS and MRC sum score.
Conclusion:
Multipoint incremental MUNE is a valuable tool for outcome measure in ALS and other diseases characterized by motor unit loss. The rate of decline of multipoint incremental MUNE is more sensitive than that of MRC sum score and ALSFRS-R, when expressed as the percentage change from baseline.
doi:10.4103/0972-2327.138522
PMCID: PMC4162024  PMID: 25221407
Amyotrophic lateral sclerosis functional rating scale; amyotrophic lateral sclerosis; compound muscle action potential; medical research council sum score; motor unit estimation; single motor unit action potential amplitude
24.  Limbic encephalitis: Clinical spectrum and long-term outcome from a developing country perspective 
Introduction:
Limbic encephalitis (LE) is characterized by rapidly progressive short-term memory loss, psychiatric symptoms and seizures. We describe the clinical spectrum, underlying etiology and long-term follow-up of patients with LE from India.
Materials and Methods:
This prospective study included patients during the period of January 2009 and December 2011 with the clinical features consistent with LE with one or more of the following: (1) Magnetic resonance imaging (MRI) evidence of temporal lobe involvement; (2) cerebrospinal fluid inflammatory abnormalities, or (3) detection of antineuronal antibodies. Patients with metastasis, infection, metabolic and nutritional deficits, stroke, were excluded.
Results:
There were 16 patients (9 females), mean age of presentation was 36.6 years (range 15-69 years). The mean duration of symptoms before presentation was 11 months (range 5 days-2 years). The most common symptom at presentation was short-term memory impairment in 7 patients followed by seizures in 5 and behavioral changes in three. Nine patients had seizures, 11 had change in behavior, language involvement in eight, cerebellar features in 3 and autonomic dysfunction in two. Four patients had associated malignancy, 3 of four presented with neurological symptoms and on investigations found to be have malignancy. Antineuronal antibody testing was done in 6 of 12 non paraneoplastic and two paraneoplastic patients, one positive for N-methyl-D-aspartate and one for anti-Hu antibody. MRI brain showed typical fluid attenuated inversion recovery or T2 bilateral temporal lobe hyperintensities in 50% of patients. At a mean follow-up of 21 months (3-36 months), 10 patients improved, 4 patients remained same and two patients expired.
Conclusion:
Early recognition of LE is important based upon clinical, MRI data in the absence of antineuronal surface antibody screen in developing nations. Early institution of immunotherapy will help in improvement in outcome of these patients in long-term.
doi:10.4103/0972-2327.132615
PMCID: PMC4090840  PMID: 25024565
Antineuronal antibodies; limbic encephalitis; paraneoplastic syndrome
25.  Progressive limbic encephalopathy: Problems and prospects 
Background:
It was observed that a good number of patients presenting with psychiatric manifestations when investigated later because of unresponsiveness to treatment or late development of organic features turned out to be treatable limbic syndromes.
Introduction:
The aim of this study is to assess the patients presenting with new onset neuropsychiatric symptoms satisfying the criteria for probable limbic encephalitis.
Patients and Methods:
Patients referred to neurology department following a period of treatment for neuropsychiatric symptoms, which did not respond to conventional treatment were analyzed using Electroencephalography (EEG), magnetic resonance imaging, cerebrospinal fluid, screening for malignancy Vasculitic work-up, histopathology and autoantibody done when feasible.
Results:
There were 22 patients satisfying criteria for probable limbic encephalitis. Their mean age was 34.5 years. Symptoms varied from unexplained anxiety, panic and depression, lack of inhibition, wandering, incontinence, myoclonus, seizures and stroke like episodes. Three had systemic malignancy, 10 had chronic infection, one each with vasculitis, acute disseminated encephalomyelitis, Hashimoto encephalitis and two each with non-convulsive status, cryptogenic and Idiopathic inflammation.
Conclusion:
All patients who present with new onset neuropsychiatric symptoms need to be evaluated for sub-acute infections, inflammation, autoimmune limbic encephalitis and paraneoplastic syndrome. A repeated 20 minute EEG is a very effective screening tool to detect organicity.
doi:10.4103/0972-2327.132616
PMCID: PMC4090841  PMID: 25024566
Chronic infection; limbic encephalitis; neuropsychology; paraneoplastic limbic encephalitis

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