PT  - JOURNAL ARTICLE
AU  - Juliana M. Valera
AU  - Tatyana Diaz
AU  - Lauren E. Petty
AU  - Beatriz Quintáns
AU  - Zuleima Yáñez
AU  - Eric Boerwinkle
AU  - Donna Muzny
AU  - Dmitry Akhmedov
AU  - Rebecca Berdeaux
AU  - Maria J. Sobrido
AU  - Richard Gibbs
AU  - James R. Lupski
AU  - Daniel H. Geschwind
AU  - Susan Perlman
AU  - Jennifer E. Below
AU  - Brent L. Fogel
TI  - Prevalence of spinocerebellar ataxia 36 in a US population
AID  - 10.1212/NXG.0000000000000174
DP  - 2017 Aug 01
TA  - Neurology Genetics
PG  - e174
VI  - 3
IP  - 4
4099  - http://ng.neurology.org/content/3/4/e174.short
4100  - http://ng.neurology.org/content/3/4/e174.full
SO  - Neurol Genet2017 Aug 01; 3
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