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- W1733719626 abstract "OBJECTIVE: To describe a Brazilian family with spinocerebellar ataxia type 31 (SCA31) and to provide a clinical algorithm in order to request a specific genetic testing for this unusual SCA subtype outside Japan. BACKGROUND: SCAs are a heterogeneous group of genetic diseases characterized by progressive ataxia and variable degrees of pyramidal and extrapyramidal signs, ophthalmoplegia, peripheral neuropathy, retinopathy, and dementia. In spite of growing knowledge on clinical and genetic features of SCAs, a clinical algorithm for “What type of SCA should this patient tested for?” is missing. SCA31 is one of the most common SCAs in Japan, and is rarely described in other countries. DESIGN/METHODS: Three Brazilian siblings were evaluated. Genetic test for a SCA painel (SCA1, SCA2, SCA3, SCA6, SCA7, SCA10, SCA12, SCA17, and DRPLA) was performed in the proband and genetic test for pentanucleotide repeats at SCA31 locus were performed in all subjects. RESULTS: Proband: a 66-year-old man presented with slow progressive cerebellar ataxia and mild dysarthria, for the last 7 years. His parents were born in Japan and died due to cardiovascular problems at their fifties with no cerebellar symptoms. Brain MRI disclosed cerebellar atrophy. He had a negative SCA painel. We suspected of SCA31 because of Japanese ancestry, tardive onset of pure ataxia, and negative test for SCA6. Pathogenic pentanucleotide repeats expansion were disclosed at SCA 31 locus. Patient 2: a 67-year-old man, brother of the proband and patient 3. He had a similar phenotype for the last 11 years. MRI showed mild cerebellar atrophy. SCA31 test was positive. Patient 3: a 58-year-old man, brother of proband and patient 2, also with similar phenotype for the last 3 years. MRI was not performed and SCA31 test was positive. CONCLUSIONS: Patients with pure cerebellar symptoms and late onset familial ataxia from Japanese ancestry, with negative test for SCA6, should be tested for SCA31. Study Supported by: Fundacao de Amparo a Pesquisa do Estado de Sao Paulo, FAPESP2012/17494-3 Disclosure: Dr. Abrahao Junior has nothing to disclose. Dr. Pedroso has nothing to disclose. Dr. Ishikawa has nothing to disclose. Dr. Raskin has nothing to disclose. Dr. Sgobbi de Souza has nothing to disclose. Dr. Mizusawa has received personal compensation for activities with Tanabemitsubishi Co and Sanofi-Aventis Pharmaceuticals Inc. Dr. Mizusawa has received personal compensation in an editorial capacity for No to Shinkei and Clinical Neuroscience. Dr. Barsottini has nothing to disclose." @default.
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- W1733719626 date "2014-04-08" @default.
- W1733719626 modified "2023-10-02" @default.
- W1733719626 title "When Should We Test Patients With Familial Ataxias For SCA31? (P2.035)" @default.
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