Session Information
Date: Wednesday, June 22, 2016
Session Title: Ataxia
Session Time: 12:00pm-1:30pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To report the Clinico-genetic correlation in Spinocerebellar ataxia type 1 (SCA1) Patients in Indian Population.
Background: Spinocerebellar ataxia type 1(SCA1) is a neurodegenerative disease caused by expansion of a CAG trinucleotide repeat in ataxin-1(ATXN1) gene.
Methods: This study was conducted for clinico-genetic analysis of 71 unrelated SCA1 patients. The diagnosis was based on suggestive neurological examination, radiology, nerve conduction studies, and CAG repeats screening the genomic DNA of patients.
Results: A total of 71 SCA1 patients comprised male:female 52:19 with following demographics, mean(SD) of age 37.05(11.01)years, age of onset(AO), 32.53(9.22), disease duration was 4.69(3.45) with CAG repeats expansion 50.70(6.01) in the range (38-65). An inverse correlation was observed between CAG and AO with correlation coefficients upon linear model, r-0.72; y=-1.165x+61.46, p-value<10-4). Affected patients showed features of gait ataxia(87.33%), Tremor(35.20%), Dysarthria(81.7%), Hyperreflexia(47.9%), Babinski sign(32.4), Nystagmus(21.1%), Slow saccades(36.6%) and NCS abnormality. Hyperreflexia associated with later AO and age (p-value, 0.05), while nerve-conduction-abnormalities were observed with early onset(marginally significant-p-value, 0.10). CAG length do not explain occurrence of various neurological impairment. We also observed different SCA1 clinical subtypes: Type-I(pure cerebellar), Type-II (cerebellar-plus-pyramidal features), Type-III(Cerebellar-plus-brain stem involvement) and Type-IV(Mixed: cerebellar/pyramidal/extrapyramidal/brain stem involvement).
Conclusions: This is the largest clinico-genetic case series from Indian population for SCA1. Our study showed that SCA1 is a heterogenous disorder with major features of cerebellar ataxia and hyperreflexia.
To cite this abstract in AMA style:
A. Takkar, I. Ahmed, S. Shakya, V. Suroliya, R. Singh, A. Sonkar, A.K. Srivastava, M. Faruq. Clinico-genetic correlation in Indian spinocerebellar ataxia (SCA1) patients [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/clinico-genetic-correlation-in-indian-spinocerebellar-ataxia-sca1-patients/. Accessed December 10, 2024.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/clinico-genetic-correlation-in-indian-spinocerebellar-ataxia-sca1-patients/