Here we present the case of a 17-year-old girl belonging to an ethnic tribe (Bodo tribe) of Assam, presenting with bilateral cerebellar signs and with history suggestive of an autosomal dominant pattern of inheritance, who was found to have spinocerebellar ataxia 7 on genetic testing. This case throws light on the probability of more such cases in the multi-ethnic society of the North-Eastern Indian states, which are not studied or reported till date.
Autosomal dominant; Spinocerebellar Ataxia; Inherited Ataxia
The present article is a treatise on the illuminating voyage of a Neurophysician along the fascinating horizons and frontiers of neurosciences. During the career as a clinical neurologist, some very interesting and intriguing cases and issues were dealt with and documented scientifically. The working of the brain and its operational architectonics came up for critical analysis, opening up new vistas in the appreciation and management of various neurological disorders. Issues regarding the working of the mind and the guidelines for health and happiness became apparent, and some very interesting generalizations with far-reaching consequences on the general well-being and health have been formulated and put forward for a healthy and happy future for mankind. A paradigm shift is warranted for a closer and better appreciation of neural dynamics at all levels of the brain, namely microscopic, mesoscopic and macroscopic levels!
Happiness; Brain-Mind-Body; Longevity
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease in adults. Typically, patients with ALS develop progressive weakness resulting, eventually, in respiratory muscle paralysis and death in 3-5 years after the onset of the disease. No definite therapy currently exists for ALS. The biologic basis of the disease is unknown. However, ALS research has taken a dramatic turn over the last 3 years. Landmark discoveries of mutations in the transactive response DNA-binding protein (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS/TLS) as causative of ALS and demonstration that abnormal aggregation of these proteins is the proximate cause of motor neuron loss in familial and sporadic ALS have initiated a paradigm shift in understanding the pathogenic mechanism of this disease. TDP-43 and FUS/TLS are DNA/RNA-binding proteins with striking structural and functional similarities. This article reviews the current direction of research efforts toward understanding the role of RNA (ribonucleic acid) processing regulation in ALS and possible therapeutic pathways in this fatal disease.
Amyotrophic lateral sclerosis; fused in sarcoma/translocated in liposarcoma; RNA metabolism; TDP-43
Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive and relatively painless tool that has been used to study various cognitive functions as well as to understand the brain–behavior relationship in normal individuals as well as in those with various neuropsychiatric disorders. It has also been used as a therapeutic tool in various neuropsychiatric disorders because of its ability to specifically modulate distinct brain areas. Studies have shown that repeated stimulation at low frequency produces long-lasting inhibition, which is called as long-term depression, whereas repeated high-frequency stimulation can produce excitation through long-term potentiation. This paper reviews the current status of rTMS as an investigative and therapeutic modality in various neuropsychiatric disorders. It has been used to study the cortical and subcortical functions, neural plasticity and brain mapping in normal individuals and in various neuropsychiatric disorders. rTMS has been most promising in the treatment of depression, with an overall milder adverse effect profile compared with electroconvulsive therapy. In other neuropsychiatric disorders such as schizophrenia, mania, epilepsy and substance abuse, it has been found to be useful, although further studies are required to establish therapeutic efficacy. It appears to be ineffective in the treatment of obsessive compulsive disorder. There is a paucity of studies of efficacy and safety of rTMS in pediatric and geriatric population. Although it appears safe, further research is required to optimize its efficacy and reduce the side-effects. Magnetic seizure therapy, which involves producing seizures akin to electroconvulsive therapy, appears to be of comparable efficacy in the treatment of depression with less cognitive adverse effects.
Long-term potentiation; long-term depression; neuropsychiatry; repetitive transcranial magnetic stimulation
Chronic conditions like epilepsy in a child can affect his/her entire family. The failure of the family members to adapt adequately to the unique demands of this childhood chronic illness can be considered as an important risk factor for development of psychopathology.
The objectives of this study were to study the profile of parenting stress in parents of children with epilepsy and its correlates; and, to examine the correlates of psychopathology in these children.
Material and Methods:
Twenty three epileptic children and their families were subjected to Parenting Stress Index (PSI), Scores for indices such as The Children's Depression Inventory (CDI), Benton Visual Retention test, Spence anxiety scale for children, The Child Behavior Checklist (CBCL) and Wechsler Intelligence Scale for Children were calculated.
Mean verbal and performance IQ score was 94, while the mean total IQ score was 95. Mean scores for all Wechsler IQ Scores as well as Benton Visual retention test were within the average range. Means for total internalizing CBCL t scores (M, Mean=70; Standard Deviation, SD=4.4), total externalizing CBCL t scores (M=60, SD=9.6), and total behavior problems CBCL t scores (M=67, SD=5.2) were above the standard cut off levels of 65 for clinical behavioral problems. Mean score on CDI was 42 ± 2. Scores of the PSI equal to or higher than 85th percentile were considered pathologically high.
The results of our study indicated that pediatric patients with epilepsy, specifically with intractable cases, are correlated with high levels of parental stress.
Epilepsy; parental stress; pediatric; psychopathology
The objective of this study is to translate and validate the International Restless Leg Syndrome Study Group rating scale (IRLS) in Hindi language.
Materials and Methods:
Thirty one consecutive patients diagnosed of Restless Leg Syndrome (RLS) were included in the study. Control group comprised of 31 subjects not having any symptom of RLS. The scale was procured from MAPI research trust; and, permission for the translation was sought. The translation was done according to the guidelines provided by the publisher. After translation, final version of the scale was applied in both the groups to find out the reliability and clinical validity.
RLS group had a predominance of females, and they were younger than the male counterparts (Age=36.80 ± 10.46 years vs 45.18 ± 8.34 years; t=2.28; P=0.03). There was no difference in the mean age between groups (RLS=39.77 ± 10.44 years vs Non RLS=38.29 ± 11.29 years; t=-0.53; P=0.59). IRLS scores were significantly different between both groups on all items (P<0.001). Translated version showed high reliability (Cronbach's alpha=0.86). IRLS scores were significantly different between both groups on all items (P<0.001).
Hindi version of IRLS is reliable and a clinically valid tool that can be applied in Hindi speaking population.
Hindi translation; International Restless Leg Syndrome Study Group rating scale; Restless Leg Syndrome; translation; validation
The mortality of patients with Guillain Barré syndrome (GBS) has varied widely with rates between 1-18%. Death results from pneumonia, sepsis, adult respiratory distress syndrome (ARDS) and less frequently due to autonomic dysfunction or pulmonary embolism. There are only few studies which have used a large sample and have in detail analyzed the circumstances relating to death and the prognostic factors for the same in a cohort, including only mechanically ventilated patients.
The objective of our study was to analyze the circumstances and factors related to mortality in mechanically ventilated patients of GBS.
Materials and Methods:
Case records of patients of GBS, satisfying National Institute of Neurological and Communicative Disorders and Stroke (NINCDS) criteria, and requiring mechanical ventilation from 1984 to 2007, were analyzed.
A total of 273 GBS patients were managed with ventilatory support (190 men and 83 women) during the period. Besides symmetrical paralysis in all patients, bulbar palsy was present in 186 (68.1%), sensory involvement in 88 (32.2%) and symptomatic autonomic dysfunction in 72 (26.4%) patients. The mortality was 12.1%. The factors determining mortality were elderly age group (P=0.03), autonomic dysfunction (P=0.03), pulmonary complications (P=0.001), hypokalemia (P=0.001) and bleeding (P=0.001) from any site. Logistic regression analysis showed the risk of mortality was 4.69 times more when pneumonia was present, 2.44 times more when hypokalemia was present, and 3.14 times more when dysautonomia was present. The odds ratio for age was 0.97 indicating that a higher age was associated with a higher risk of mortality.
Ventilator associated pulmonary complications, bleeding and hypokalemia especially in elderly patients require optimal surveillance and aggressive therapy at the earliest for reducing the mortality in this group of GBS patients.
Guillain Barré syndrome; intensive care; mechanical ventilation; mortality
To assess the surgical outcome of myasthenia gravis (MG) following thymectomy and to determine the outcome predictors to such therapeutic approach.
Materials and Methods:
This study is a retrospective review of 80 consecutive thymectomies performed for MG over a 16-year period.
There were 41 females and 39 males (mean age, 34.32 years) with mean disease duration of 17.45 months prior to surgery. Stagewise distribution of the patients revealed 2.5% in stage I, 48.7% in stage IIA, 33.8% in stage IIB, 8.7% in stage III, and 6.3% in stage IV. The surgical approach was either trans-sternal (n=67) or video-assisted thoracoscopic route (n=13). Follow-up was obtained in 91.2% (n=73) of patients with mean duration of 67.7 months. At their last follow-up, 26.0% were in complete remission, 35.6% were asymptomatic on decreased medications, and 17.8% had clinical improvement on decreased medications. Overall, 79.4% of patients benefited from surgery, 8.2% had unchanged disease status, and 12.3% worsened clinically. Factors influencing favorable outcome include sex, disease stage, gland weight, and preoperative medication with anti-cholinesterase (P<0.05). There was one death in the perioperative period due to septicemia. Two patients died at fourth and seventh month following thymectomy.
Thymectomy for MG is safe and effective. Certain influencing factors may shape treatment decisions and target higher risk patients.
Myasthenia gravis; thymectomy; video-assisted thymectomy
Dengue, an acute viral disease transmitted by Aedes mosquitoes, is highly endemic in many tropical and subtropical areas of the world. Neurological complications of dengue infection have been observed more frequently in the recent past and some studies highlighted varied neurological complications arising in the course of dengue illness. In this retrospective study, we report various neurological complications observed during the last 2 years in patients of dengue fever.
Materials and Methods:
The patients presenting with neurological complications with positive serology (IgM antibody) for dengue infection were consecutively recruited from the Department of Neurology/Medicine from a tertiary center of Lucknow, India. These patients were subjected to a detailed clinical evaluation, laboratory assessment including blood count, hematocrit, coagulation parameters, biochemical assays, serology for dengue fever, enzyme-linked immunosorbent assay for human immunodeficiency virus and other relevant investigations.
Twenty-six patients with neurological complications associated with confirmed dengue infection were observed during the last 2 years. Eighteen of these patients were male. Of the 26 patients, 10 patients were suffering from brachial neuritis, four patients had encephalopathy, three patients were consistent with the diagnosis of Guillain Barre syndrome, three patients had hypokalemic paralysis associated with dengue fever and two patients had acute viral myositis. Opsoclonus-myoclonus syndrome was diagnosed in two patients, myelitis in one patient and acute disseminated encephalo-myelitis also in one patient.
Dengue fever was associated with widespread neurological complications. Brachial neuritis and opsoclonus-myoclonus syndrome were observed for the first time in this study.
Brachial neuritis; dengue fever; hypokalemic paralysis; myositis; neurological complications
Epilepsy is a chronic medical condition with many co-morbid features. It has been observed that children with epilepsy (CWE) have a compromised quality of life (QOL).
To assess the QOL in CWE and to study the various factors affecting QOL among CWE.
Materials and Methods:
The sample consisted of 102 CWE aged 5–15 years of either sex. QOL was measured by Quality of Life in Childhood Epilepsy (QOLCE) questionnaire, a 76-item, parent-reported questionnaire. Cronbach alpha was used to determine the internal consistency of the subscales and Pearson correlation to determine construct validity. The t-test and analysis of variance were used to compare mean QOLCE scores.
Factors affecting QOL included age, place of residence, socioeconomic condition, maternal education, seizure type and frequency and number of antiepileptic drugs.
CWE have a relatively compromised QOL and comprehensive care needs to go beyond the attempt of controlling seizures.
Children with epilepsy; health related quality of life; quality of life in childhood epilepsy questionnaire; quality of life
We aimed to identify the risk factors for epilepsy in children.
Materials and Methods:
This case–control retrospective study was carried out in the pediatric neurology outpatient service of the Trivandrum Medical College. All children (1–12 years) with epilepsy satisfying the selection criteria were included, after obtaining consent from parents. Those with single seizures or febrile seizures were excluded. Controls were children without epilepsy attending the same hospital. Parents were interviewed and clinical data were obtained from medical records. Statistical analysis included chi-square test, odds ratio (OR), and logistic regression.
There were 82 cases and 160 controls whose mean age was 6.9 + 3.6 and 5.2 + 3.1, years respectively. On univariate analysis, family history of epilepsy, prolonged labor, cyanosis at birth, delayed cry after birth, admission to newborn intensive care unit, presence of congenital malformations, neurocutaneous markers, incessant cry in the first week, delayed developmental milestones, meningitis, encephalitis, and head trauma were found to be significant. On logistic regression, family history of epilepsy (OR 4.7), newborn distress (OR 8.6), delayed developmental milestones (OR 12.6), and head trauma (OR 5.8) were found to be significant predictors. Infants who had history of newborn distress are likely to manifest epilepsy before 1 year if they are eventually going to have epilepsy (OR 3.4).
Modifiable factors such as newborn distress and significant head trauma are significant risk factors for childhood epilepsy. Newborn distress is a risk factor for early-onset (<1 year age) epilepsy.
Epilepsy; Kerala; risk factor