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Vinay Goyal

Publications and source records attributed to Vinay Goyal.

7 recordsLinked to original sources
PubMed2006

Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients.

Recent discovery of pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2) gene in Parkinson's disease (PD) patients in different ethnic groups have raised a hope of diagnostic screening and genetic counseling. We investigated the six most commonly reported mutations in LRRK2 gene among Indian PD patients, using PCR-RFLP method. Mutations G2019S, R1441C, R1441G, and R1441H were screened in 1012 individuals (PD, 800; controls, 212) while mutations I2012T and I2020T were screened in 748 PD patients. We did not observe any of these six mutations in this study sample except in a single female young onset PD patient who showed a heterozygous G2019S mutation. The absence of mutations was reconfirmed by sequencing of probands from several autosomal dominant PD families. Our observations suggest that these mutations may be a rare cause of PD among Indians and therefore of little help for diagnostic screening and genetic counseling for Indian PD patients.

Adult↗
PubMed2006

Parkin mutations in familial and sporadic Parkinson's disease among Indians.

We observed a mutation frequency of 8.5% in Parkin gene among Indian PD patients based on sequencing and gene dosage analysis of its exons. We identified nine point mutations of which seven are novel and hitherto unreported. These mutations accounted for 14.3% familial PD, 6.9% young onset and 5.9% late onset sporadic PD. Of the 20 PD patients with mutations only two had homozygous mutations and one was a compound heterozygote. Homozygous exonic deletions were absent but heterozygous exon rearrangements were observed in 9.2% of patients (19% familial PD and 4.5% young onset sporadic PD).

Adult↗
PubMed2006

IgM anti-GM1 antibody titers in patients with monomelic amyotrophy.

BACKGROUND: Monomelic amyotrophy (MMA) is a benign motor neuron disorder, which particularly affects young people and the etiology is still unknown. Gangliosides are located on the outer surface of motor neurons. Anti-GM1 antibodies have been found to be elevated in multi-focal motor neuropathy with conduction block and other neurological diseases, which may have therapeutic implication. AIM: To evaluate IgM anti-GM1 antibody titers in patients of monomelic amyotrophy. SETTING AND DESIGN: prospective controlled study. MATERIALS AND METHODS: Forty-six clinically and electrophysiologically diagnosed cases of MMA were assessed for IgM anti-GM1 antibody titers by enzyme-linked immunosorbent assay (ELISA) method and compared with titers in healthy controls, cases of amyotrophic lateral sclerosis (ALS) and acute inflammatory demyelinating polyneuropathy (AIDP). Titer of 800 units was taken as upper limit of normal (Buhlmann Laboratories AG, Switzerland). STATISTICAL ANALYSIS USED: one-way ANOVA. RESULTS: The mean age of 46 patients with MMA was 24.5 (+/- 7.3) years, with male female ratio of 44:2. The mean age of 19 healthy controls was 24.1 (+/- 3) years with male: female ratio of 18:1. Five (26%) individuals in the healthy control group, 22 (48%) patients of MMA, four (30%) of ALS and five (50%) of AIDP had high titers of IgM anti-GM1 antibody (P> 0.05). CONCLUSIONS: Although larger number of patients with MMA had higher IgM anti-GM1 antibody titers, the difference was not statistically significant from titers of healthy individuals and of patients in the ALS and AIDP group.

Adult↗
PubMed2004

Myasthenic crisis: a retrospective study.

BACKGROUND AND OBJECTIVE: Myasthenic crisis (MC) is one of the important and common complications in the natural history of myasthenia gravis (MG). MC can be precipitated by multiple factors including deficiency or excess of the acetylcholinesterase inhibitors (AChEI). Any episode of MC is an emergency requiring aggressive therapy. We studied the demographic, clinical and treatment-related characteristics of patients who developed MC. MATERIALS AND METHODS: A retrospective study was conducted in patients with MC admitted during a 31-month period from February 1999 to August 2001, at a tertiary care center in India. RESULTS: Eleven patients (9.69% of the total 114 patients with MG) were admitted with 12 episodes of MC. Mean age at presentation was 39.83 + 13.18 years with male predominance. Seven patients had undergone thymectomy previously; of which 2 had postoperative MC. Six patients had thymoma. Steroid or cholinesterase inhibitor withdrawal and infections were the commonest precipitating factors for MC. Patients required ventilatory support for median 14 days. They responded to low volume of plasma exchange (PE) (mean 854 ml / day with mean 6.5 cycles per patient). CONCLUSIONS: This report highlights that the subset of Indian patients with MG who are at risk to develop MC belong to the 3rd and 4th decade, have bulbar symptoms at presentation and are associated with thymoma. Patients with MC should have judicious drug adjustments under supervision and should be treated aggressively during impending MC.

Adult↗