Prevalence of spinocerebellar ataxia 36 in a US population.
作者： Juliana M. Valera , Tatyana Diaz , Lauren E. Petty , Beatriz Quintáns , Zuleima Yáñez
DOI: 10.1212/NXG.0000000000000174
关键词: Pcr cloning 、 Spinocerebellar ataxia 、 Gait Ataxia 、 Ataxia 、 Population 、 Pediatrics 、 Spastic 、 Cohort 、 Trinucleotide repeat expansion 、 Medicine
摘要: Author(s): Valera, Juliana M; Diaz, Tatyana; Petty, Lauren E; Quintans, Beatriz; Yanez, Zuleima; Boerwinkle, Eric; Muzny, Donna; Akhmedov, Dmitry; Berdeaux, Rebecca; Sobrido, Maria J; Gibbs, Richard; Lupski, James R; Geschwind, Daniel H; Perlman, Susan; Below, Jennifer Fogel, Brent L | Abstract: ObjectiveTo assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in United States.MethodsA total 577 patients with undiagnosed sporadic or familial cerebellar comprehensively evaluated were molecularly for SCA36. Repeat primed PCR fragment analysis used to screen presence repeat expansion NOP56 gene.ResultsFragment triplet products identified GGCCTG hexanucleotide intron 1 4 index cases. These SCA36-positive families comprised 2 distinct ethnic groups: white (European) (2) Asian (Japanese [1] Vietnamese [1]). Individuals SCA36 exhibited typical gait age onset ranging between 35 50 years. Patients also suffered from ataxic spastic limbs, altered reflexes, abnormal ocular movement, cognitive impairment.ConclusionsIn US population, was observed be rare disorder, accounting 0.7% (4/577 cases) disease cohort.
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