A Study on Clinical Profile of Hemifacial Spasm in India and the Therapeutic Response to Botulinum Toxin Type A Injection as well as Pre and Postinjection Quality of Life.

Background: Hemifacial spasm (HFS) is a distressing, involuntary, irregular tonic-clonic contraction of the facial muscles innervated by the seventh cranial nerve. It affects the quality of life. Botulinum toxin is a preferred symptomatic treatment option for the condition.

P300 Wave Alterations and Cognitive Impairment in Cerebellum Lesions.

Patients with cognitive deficits have a prolonged latency and reduced amplitude of the P300 wave. However, no study has correlated P300 wave alterations with the cognitive performance of patients with cerebellar lesions. We aimed to determine if the cognitive status of these patients was associated with P300 wave alterations.

Retinal nerve fiber layer thinning found in amyotrophic lateral sclerosis - Correlation with disease duration and severity.

Purpose: The retinal involvement of amyotrophic lateral sclerosis (ALS) is a novel idea about a possible correlation between retinal nerve fiber layer (RNFL) thickness in different spectra of ALS patients. Finding the association of RNFL with disease duration and severity will help identify a novel noninvasive biomarker.

Methods: The study was designed as a cross-sectional study and was conducted with a suitable proforma.

Prevalence, burden, and risk factors of migraine: A community-based study from Eastern India.

Background: Headache is common in communities; however, epidemiological research regarding its prevalence is infrequent in India.

Aim: We planned to study the prevalence of migraine, its disease burden, and the associated risk factors.

Setting And Design: This is an urban community study conducted in Kolkata with a cross-sectional and nested case-control design.

Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.

The aim of this study is to examine the role of GCH1 among Indians affected with dopa responsive dystonia (DRD) and early onset Parkinson's disease (EOPD). The patients (n = 76 including 19 DRD and 36 EOPD) and controls (n = 138) were screened for variants in GCH1 by PCR amplification of exons, splice junctions and 1 kb upstream region followed by SSCP and DNA sequencing. Four novel variants (p.

Effects of age, stage of disease, and educational level on cognitive dysfunction in non-demented idiopathic Parkinsonism: A preliminary report.

Background: Parkinsonism is known to be associated with clinically significant impairments on an array of cognitive deficits. The degree of impairment is dependent not only on the course of the disease, but also on other bio-social factors. The objective of the present study was to examine the cognitive dysfunction in non-demented idiopathic Parkinson's disease (IPD) in relation to age, stage of disease, and educational level in a sample in Kolkata, India.

Role of tau kinases (CDK5R1 and GSK3B) in Parkinson's disease: a study from India.

Glycogen synthase kinase-3β (GSK3B) and cyclin-dependent kinase 5 (CDK5) are the 2 major protein kinases involved in abnormal phosphorylation of tau. To determine their potential role in the pathogenesis of Parkinson's disease (PD) we analyzed 2 functional single nucleotide polymorphisms (SNPs) of GSK3B (rs334558 and rs6438552) and rs735555 of CDK5 regulatory subunit 1 (CDK5R1) in 373 PD cases and 346 healthy controls of eastern India. The C,C and T,C haplotypes of GSK3B were respectively moderately associated with increased risk and protection for late onset PD (LOPD) (odds ratio [OR], 1.

Evaluation of PINK1 variants in Indian Parkinson's disease patients.

Mutations in PINK1 have been identified in familial and sporadic cases of early onset Parkinson's disease (PD). To determine the contribution of PINK1 variants in Indian PD patients, the gene was screened in 250 patients and 205 ethnically matched controls by polymerase chain reaction, single-stranded conformation polymorphism and DNA sequencing. Two potentially pathogenic variants (Arg246Gln & Arg276Gln) were detected in the heterozygous state in 5 patients; none of the patients carried homozygous or compound heterozygous mutations.

Microtubule-associated protein tau (MAPT) influences the risk of Parkinson's disease among Indians.

Parkinson's disease (PD) is a neurodegenerative disease of the central nervous system and its prevalence increases with age. Microtubule-associated protein tau (MAPT), a neuronal protein is involved in the pathogenesis of several neurodegenerative diseases including PD. To determine the broader significance of this association with PD, replicative studies in distinct ethnic populations are required.