Prevalence of Spinocerebellar Ataxia 36 in a US Population

Overview

Journal Neurol Genet

Date 2017 Aug 2

PMID 28761930

Citations 11

Authors

Juliana M Valera

Tatyana Diaz

Lauren E Petty

Beatriz Quintans

Zuleima Yanez

Eric Boerwinkle

Donna Muzny

Dmitry Akhmedov

Rebecca Berdeaux

Maria J Sobrido

Richard Gibbs

James R Lupski

Daniel H Geschwind

Susan Perlman

Jennifer E Below

Brent L Fogel

Affiliations

Soon will be listed here.

Abstract

Objective: To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States.

Methods: A total of 577 patients with undiagnosed sporadic or familial cerebellar ataxia comprehensively evaluated at a tertiary referral ataxia center were molecularly evaluated for SCA36. Repeat primed PCR and fragment analysis were used to screen for the presence of a repeat expansion in the gene.

Results: Fragment analysis of triplet repeat primed PCR products identified a GGCCTG hexanucleotide repeat expansion in intron 1 of in 4 index cases. These 4 SCA36-positive families comprised 2 distinct ethnic groups: white (European) (2) and Asian (Japanese [1] and Vietnamese [1]). Individuals affected by SCA36 exhibited typical clinical features with gait ataxia and age at onset ranging between 35 and 50 years. Patients also suffered from ataxic or spastic limbs, altered reflexes, abnormal ocular movement, and cognitive impairment.

Conclusions: In a US population, SCA36 was observed to be a rare disorder, accounting for 0.7% (4/577 index cases) of disease in a large undiagnosed ataxia cohort.

Citing Articles

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A Chinese SCA36 pedigree analysis of expansion region based on long-read sequencing.

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Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.

Baviera-Munoz R, Carretero-Vilarroig L, Vazquez-Costa J, Morata-Martinez C, Campins-Romeu M, Muelas N Neurol Genet. 2022; 8(6):e200038.

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