Spinocerebellar Ataxia Type 10 or SCA10 in Peruvian Population. First Report of Three Families (PD2.006)

OBJECTIVE: To describe the clinical characteristics of three Peruvian families with Spinocerebellar ataxia type 10. BACKGROUND: SCA type 10, caused by an abnormal expansion of ATTCT repeats in the ATXN10 gene, has been reported only in Latin-American populations, mostly from Mexico and Brazil, where it is the third most common SCA after SCA2 and MJD/SCA3 ; other SCA10 families came from Argentina and Venezuela. DESIGN/METHODS: Standardized clinical evaluation was completed in three mestizo (Amerindian and Spanish admixture) non-related individuals with late onset ataxia and autosomal dominant inheritance in two of them, at the Instituto Nacional de Ciencias Neurologicas. DNA samples were obtained after informed consent. Molecular analysis of ATTCT repeats in the ATXN10 gene (locus 22q13.31) was performed by PCR with fluorescent-labeled primers and capillary electrophoresis using AB13130xl Genetic Analyzer at the Molecular Genetics Lab in Porto Alegre, Brazil. RESULTS: Proband I:A 39 yo female born in the central Peruvian Andes, with progressive gait and limb ataxia with dysarthia since her 28 yo; her 73 yo father presents ataxia since his 55 yo. Proband II: 57yo male born in the central Peruvian coast, with two years history of progressive gait ataxia, dysarthria and dysphagia, pyramidal signs and episodic complex partial seizures, without family history. Proband III: 52yo female, born in the northern Peruvian coast, with 18 years history of slowly progressive gait ataxia with pyramidal signs, dysphagia and dysarthria, no seizures reported; her sister and three maternal aunts have ataxia, 2 of them with epilepsy. Haplotypes and clinical progression are described in other posters. CONCLUSIONS: This is the first report of SCA10 cases in Peruvian population, suggesting an important contribution of SCA 10 to the prevalence of SCAs in Latin American mestizo population other than Mexican and Brazilian; these families are randomly distributed in the country, with an ataxia-epilepsy predominant phenotype. Supported by: FAPERGS, CNPq, RIBERMOV, NIH RTG #R25TW009345. Disclosure: Dr. Cornejo has received personal compensation for activities with Schwartz. Dr. Cornejo has received research support from Vanderbilt University. Dr. Cornejo-Herrera has nothing to disclose. Dr. Lindo-Samanamud has nothing to disclose. Dr. Castilhos has nothing to disclose. Dr. Saraiva-Pereira has nothing to disclose. Dr. Jardim has nothing to disclose. Dr. Mazzetti has received personal compensation for activities with Novartis, Eli Lilly, and Schwartz.