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1.  Genetics of frontotemporal lobar degeneration 
Annals of Indian Academy of Neurology  2010;13(Suppl2):S55-S62.
Frontotemporal lobar degeneration (FTLD) is a highly heterogenous group of progressive neurodegenerative disorders characterized by atrophy of prefrontal and anterior temporal cortices. Recently, the research in the field of FTLD has gained increased attention due to the clinical, neuropathological, and genetic heterogeneity and has increased our understanding of the disease pathogenesis. FTLD is a genetically complex disorder. It has a strong genetic basis and 50% of patients show a positive family history for FTLD. Linkage studies have revealed seven chromosomal loci and a number of genes including MAPT, PGRN, VCP, and CHMB-2B are associated with the disease. Neuropathologically, FTLD is classified into tauopathies and ubiquitinopathies. The vast majority of FTLD cases are characterized by pathological accumulation of tau or TDP-43 positive inclusions, each as an outcome of mutations in MAPT or PGRN, respectively. Identification of novel proteins involved in the pathophysiology of the disease, such as progranulin and TDP-43, may prove to be excellent biomarkers of disease progression and thereby lead to the development of better therapeutic options through pharmacogenomics. However, much more dissections into the causative pathways are needed to get a full picture of the etiology. Over the past decade, advances in research on the genetics of FTLD have revealed many pathogenic mutations leading to different clinical manifestations of the disease. This review discusses the current concepts and recent advances in our understanding of the genetics of FTLD.
doi:10.4103/0972-2327.74246
PMCID: PMC3039162  PMID: 21369419
Frontotemporal lobar degeneration; genetic risk factors; microtubule-associated protein tau; mutations; progranulin; TDP-43
2.  An overview of dementias 
doi:10.4103/0972-2327.74245
PMCID: PMC3039164  PMID: 21369418
3.  An overview of biomarkers in Alzheimer’s disease 
Annals of Indian Academy of Neurology  2010;13(Suppl2):S116-S123.
Alzheimer’s disease (AD) is the commonest progressive, dementing neurodegenerative disease in elderly, which affects innumerable people each year, and these numbers are likely to further increase as the population ages. In addition to the financial burden of AD on health care system, the disease has powerful emotional impact on caregivers and families of those afflicted. In this advancing era of AD research, with the availability of new treatment strategies having disease-modifying effects, there is growing need for the early diagnosis in AD, often hampered by paucity of biomarkers of AD. Various candidate biomarkers for AD have been developed that can detect patients with AD at an early stage. In the recent years, the search for an ideal biomarker has undergone a rapid evolution. Novel technologies in proteomics, genomics, and imaging techniques further expand the role of a biomarker not only in early diagnosis, but also in monitoring the response to various treatments. However, the availability of sensitive and specific biomarkers requires the method to be standardized so as to be able to compare the results across studies. Inspite of tremendous advances in this field the quest for an “ideal biomarker” still continues. In this review, we will discuss the various candidate markers in five spheres namely biochemical, neuroanatomical, metabolic, genetic and neuropsychological, and their current status and limitations in AD diagnosis.
doi:10.4103/0972-2327.74256
PMCID: PMC3039167  PMID: 21369416
Alzheimer’s disease; biomarkers; biochemical; MRI volumetry; neuropsychology; positron emission tomography; tau
4.  Qualitative aspects of learning, recall, and recognition in dementia 
Objective:
To determine whether learning and serial position effect (SPE) differs qualitatively and quantitatively among different types of dementia and between dementia patients and controls; we also wished to find out whether interference affects it.
Materials and Methods:
We administered the Malayalam version of the Rey Auditory Verbal Learning Test (RAVLT) to 30 cognitively unimpaired controls and 80 dementia patients [30 with Alzheimer's disease (AD), 30 with vascular dementia (VaD), and 20 with frontotemporal dementia (FTD)] with mild severity on the Clinical Dementia Rating Scale.
Results:
All groups were comparable on education and age, except the FTD group, who were younger. Qualitatively, the learning pattern and SPE (with primacy and recency being superior to intermediate) was retained in the AD, VaD, and control groups. On SPE in free recall, recency was superior to intermediate in the FTD group (P < 0.01 using Bonferroni correction). On recognition, the AD and VaD groups had more misses (P < 0.01), while the FTD group had more false positives (P < 0.01).
Conclusion:
Quantitative learning is affected by dementia. The pattern of qualitative learning remains unaltered in dementia in the early stages.
doi:10.4103/0972-2327.64639
PMCID: PMC2924509  PMID: 20814495
Serial position effect; Alzheimer's disease; vascular dementia; frontotemporal dementia
5.  Cockayne syndrome 
doi:10.4103/0972-2327.41884
PMCID: PMC2771958  PMID: 19893654
6.  Issues in evaluation of cognition in the elderly in developing countries 
Background:
Developing regions of the world host the majority of elderly subjects who are at risk for dementia. Reliable epidemiological data from these countries is invaluable in tackling this global problem. Scarcity of such data in literature is largely attributable to problems that are unique to developing communities worldwide.
Objective:
To classify and describe the problems that interfere with the collection of reliable epidemiological data on cognitive impairment in the elderly in developing communities, and to suggest practical solutions for some of them.
Methods:
Inferring from the experiences of a large, ongoing, population-based study on the cognitive impairments in the elderly in South India and from the review of literature.
Conclusion:
A fatalistic attitude regarding aging in the communities, significant heterogeneity in educational abilities and activities of daily living, high illiteracy among rural subjects, and lack of an organized health care system and updated demographic figures are some of the major factors that contribute to technical, namely, methodology-related problems and practical, namely, subject-related problems in such epidemiological studies.
doi:10.4103/0972-2327.41874
PMCID: PMC2771956  PMID: 19893644
Cognition; dementia; developing countries; elderly; impairment; scale; screening

Results 1-6 (6)