Abstract Details

Title Spinocerebellar Ataxia Type 10: Haplotype Analyses in 15 Brazilian and Peruvian Families

Topic Movement Disorders

Presentation(s) P05 - (-)

Poster/Presentation
Number 044

Objective

Background BACKGROUND: Spinocerebellar ataxia type 10 (SCA10) is a neurodegenerative disease characterized by cerebellar ataxia and seizures, and inherited as an autosomal dominant trait. A large expansion of a pentanucleotide repeat (ATTCT) in intron 9 of the ATXN10 gene is the molecular basis of this disease. To date, SCA10 was described in patients from Latin-America countries only. A common Amerindian ethnic origin of SCA10 families, together with lack of SCA10 cases in European countries, supports a local founder effect for a SCA10 mutation.

Design/Methods DESIGN/METHODS: Haplotype analysis was performed based on polymorphic markers within and flanking the ATXN10 gene in 23 confirmed SCA10 cases: 3 families have been describe previously (Alonso et al, 2006; Almeida et al, 2009), while 12 families were newly identified, within a large cohort of patients with ataxia. From those, 3 families were from Peru, while the remaining 9 were from Brazil (clinical description is reported separately). The same polymorphic markers and haplotypes were typed in 100 individuals (200 alleles) from the general local population.

Results RESULTS: A different haplotype distribution was found in SCA10 patients and the control group. The most frequent haplotype was the same in both groups; however, frequencies were considerably different. This haplotype was found in 12 from the total of 15 families, being present in 20 out of 23 patients with expanded alleles in the ATXN10 gene.

Conclusions CONCLUSIONS: Additional cases of SCA10 from Brazil and from Peru confirm the presence of a consistently recurrent haplotype that suggests a common ancestry for the vast majority of SCA10 patients. We are aware that other haplotypes can also be found segregating with the nucleotide expansion in the ATXN10 gene, but at much lower frequency.

Authors/Disclosures
PRESENTER	No disclosure on file
Kailash P. Bhatia, MD, FAAN (UCL)	Dr. Bhatia has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ipsen. Dr. Bhatia has received publishing royalties from a publication relating to health care.
	No disclosure on file
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Orlando G. Barsottini, MD, PhD (Universidade Federal de São Paulo)	Dr. Barsottini has nothing to disclose.
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Helio Van Der Linden, Jr.	No disclosure on file
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Mario R. Cornejo Olivas, MD (INSTITUTO NACIONAL DE CIENCIAS NEUROLOGICAS)	Dr. Cornejo Olivas has received research support from UNIVERSIDAD CIENTIFICA DEL SUR. The institution of Dr. Cornejo Olivas has received research support from CHDI. The institution of Dr. Cornejo Olivas has received research support from NIH. The institution of Dr. Cornejo Olivas has received research support from GP2/ASAP/MJFF. Dr. Cornejo Olivas has a non-compensated relationship as a Secretary elect with MDS-PAS that is relevant to AAN interests or activities.
Pilar Mazzetti Soler, MD (CONSULTORIOS MAZZETTI)	No disclosure on file
	No disclosure on file
	No disclosure on file

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