RT Journal Article
SR Electronic
T1 Prevalence of spinocerebellar ataxia 36 in a US population
JF Neurology Genetics
JO Neurol Genet
FD Lippincott Williams & Wilkins
SP e174
DO 10.1212/NXG.0000000000000174
VO 3
IS 4
A1 Juliana M. Valera
A1 Tatyana Diaz
A1 Lauren E. Petty
A1 Beatriz Quintáns
A1 Zuleima Yáñez
A1 Eric Boerwinkle
A1 Donna Muzny
A1 Dmitry Akhmedov
A1 Rebecca Berdeaux
A1 Maria J. Sobrido
A1 Richard Gibbs
A1 James R. Lupski
A1 Daniel H. Geschwind
A1 Susan Perlman
A1 Jennifer E. Below
A1 Brent L. Fogel
YR 2017
UL http://ng.neurology.org/content/3/4/e174.abstract
AB 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 NOP56 gene.Results: Fragment analysis of triplet repeat primed PCR products identified a GGCCTG hexanucleotide repeat expansion in intron 1 of NOP56 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.ERIS=Error Rate In Sequencing (ERIS); IBD=identically by descent; LOD=logarithm of the odds; MAF=minor allele frequency; RP-PCR=repeat primed PCR; SCA=spinocerebellar ataxia; SCA36=spinocerebellar ataxia 36; SNP=single nucleotide polymorphism