Abstract Details

Title Spinocerebellar Ataxia Type 10 or SCA10 in Peruvian Population. First Report of Three Families

Topic Movement Disorders

Presentation(s) IN6 - (-)

Poster/Presentation
Number 007

Objective

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.

Authors/Disclosures
Mario R. Cornejo Olivas, MD (INSTITUTO NACIONAL DE CIENCIAS NEUROLOGICAS) PRESENTER	The institution of Dr. Cornejo Olivas has received research support from CONCYTEC-PROCIENCIA PERU. Dr. Cornejo Olivas has a non-compensated relationship as a Board member at Rare Disorders Burou (CCI-MINSA) with Ministry of Health in Peru that is relevant to AAN interests or activities.
Christopher C. LaGanke, MD (North Central Neurology Associates, PC)	Dr. LaGanke has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for EMD Serono. Dr. LaGanke has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Dr. LaGanke has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Biogen. Dr. LaGanke has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Sanofi. Dr. LaGanke has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Novartis. Dr. LaGanke has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for GSK. Dr. LaGanke has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Serono EMD. Dr. LaGanke has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Genentech. Dr. LaGanke has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Bristol Myers Squibb. Dr. LaGanke has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for TG Therapeutics.
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Pilar Mazzetti Soler, MD (CONSULTORIOS MAZZETTI)	No disclosure on file

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