Abstract Details

Title Huntington Disease, Huntington Disease-Like Type 2 and Spinocerebellar Ataxia Type 2 in a Case Series from Brazil

Topic Movement Disorders

Presentation(s) P07 - (-)

Poster/Presentation
Number 214

Objective

Background BACKGROUND: Huntington phenotype might be caused by several loci besides HTT, the proportions varying in different populations.

Design/Methods DESIGN/METHODS: Patients were recruited by presenting a suggestive phenotype. Clinical data were collected, DNA regions of interest analyzed, and genetic diagnoses obtained.

Results RESULTS: 103 families were found: 86 HD (113 patients), 4 HDL2, and 1 SCA2; 12 remained undiagnosed. Eleven families did not report autosomal dominant (AD) inheritance: 10 with HD and 1 undiagnosed. Mean (SD) ages at-onset (AO) and at-examination were of 37.7 (12.4) and 46.5 (12) years, and were similar between groups. Chorea was the first symptom in 60% of HD and in 50% of HDL-2, followed by dementia in 29% of HD and 25% of HDL2 patients. Chorea affected 95% of HD, 75% of HDL2, 50% of cases without diagnosis and the SCA2 patient. Dementia was present in 85% of HD, all HDL2 and SCA2 cases, and 75% of undiagnosed cases. In HD, the median expanded (CAG)n (range) was 44 (40-81) units; R2 between the expanded HTT and AO was 0.55 (p=0.0001, Spearman). Five HD patients presented HTT short alleles with 27 to 30 repeats, with no differences in AO or clinical findings. Four HDL2 families were diagnosed (including one described by Santos et al, 2008); 2 HDL2 families were from Rio de Janeiro (in a total of 13 from this region). HDL2 patients had an expanded (CTG)n with 47, 47, 48 and 56 repeats. One HDL2 patient carried an HTT allele with 30 repeats, without any apparent phenotypic effect.

Conclusions CONCLUSIONS: HDL2 was the second diagnosis among Brazilians with a HD-like phenotype. 10/11 families without a clear AD inheritance had HD, confirming the high sensitivity of the neurological suspicion per se.

Authors/Disclosures
PRESENTER	No disclosure on file
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Aksel Siva, MD (Istanbul University Cerrahpasa School of Medicine)	Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi-Genzyme. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen - TR. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ali Raif Pharmaceuticals, Turkiye. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanovel Pharmaceuticals, Turkiye. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Abdi Ibrahim Ilac - TR. Dr. Siva has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck Serono . The institution of Dr. Siva has received research support from Turkish MS Society. The institution of Dr. Siva has received research support from The Scientific and Technological Research Council Of Turkey - Health Sciences Research Grants.
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Orlando G. Barsottini, MD, PhD (Universidade Federal de São Paulo)	Dr. Barsottini has nothing to disclose.
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Andrea Albonico	Andrea Albonico has nothing to disclose.
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