Prevalence of spinocerebellar ataxia 36 in a US population (P1.057)

摘要: Objective: To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in United States. Background: Spinocerebellar (SCA36), is caused GGCCTG hexanucleotide repeat expansion first intron pre-mRNA processing gene, nucleolar protein 56 (NOP56). Individuals with this disorder show progressive, late-onset, ataxic symptoms affecting limb, trunk, and/or gait stability. date, SCA36 has been reported regions Japan, Spain, France, Germany, most recently, China, but its States undetermined. Design/Methods: A total 577 patients undiagnosed sporadic or familial cerebellar comprehensively evaluated were molecularly for SCA36. Repeat primed PCR fragment analysis used to screen presence NOP56 gene. Results: Fragment triplet products identified 1 4 index cases. These SCA36-positive families comprised 2 distinct ethnic groups: white (European) (2) Asian (Japanese [1] Vietnamese [1]). exhibited typical age onset ranging between 35 50 years. Patients also suffered from spastic limbs, altered reflexes, abnormal ocular movement, cognitive impairment. Conclusions: In US population, was observed be rare disorder, accounting 0.7% (4/577 cases) disease cohort. Study Supported by: This work supported part National Human Genome Research Institute Heart Lung Blood grant (U54HG006542) Baylor-Hopkins Center Mendelian Genomics, Neurologic Disorders Stroke (grant R01NS082094 Dr. Fogel), Ataxia Foundation (Young Investigator Award Fogel). The research described NIH/National Advancing Translational Science UCLA Clinical UL1TR000124. Fogel acknowledges support through donations University California Rochester Foundation. authors received Spanish Health Carlos III PI12/00742) FEDER funds. Z.Y. Fundacion Carolina. R.B. grants NIH, Arthritis Musculoskeletal Skin Diseases (R01AR059847), Diabetes Digestive Kidney (R01DK092590). D.A. American Association (15POST25090134). Disclosure: Valera nothing disclose. Diaz Petty Quintans personal compensation consulting, serving on scientific advisory board, speaking, other activities Genomic Consulting S.L. Yanez Boerwinkle Muzny Akhmedov Berdeaux Sobrido Gibbs Lupski Geschwind Perlman Below Dr