A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7

摘要: Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder characterized by progressive cerebellar associated with macular degeneration. We recently described one of the largest series patients SCA7 that originated from a founder effect in Mexican population, which allowed us to perform herein first comprehensive clinical, neurophysiological, and genetic characterization SCA7. In this study, 50 patients, categorized into adult or early phenotype, were clinically assessed using standard neurological exams genotyped fluorescent PCR capillary electrophoresis. Patients exhibited classical phenotype disease visual loss; however, we reported, for time, frontal-executive disorders altered sensory-motor peripheral neuropathy these patients. Semiquantitative analysis ataxia-associated symptoms was performed Scale Assessment Rating Ataxia (SARA) Brief (BARS) scores, while extracerebellar features measured employing Inventory Non-ataxia Symptoms (INAS) scale. rating scales confirmed critical role size cytosine-adenine-guanine (CAG) repeat on age at onset severity, CAG instability showed paternal rather than maternal transmission led greater instability.