Huntington disease and Huntington disease‐like in a case series from Brazil. (17th October 2013)

• Record Type: Journal Article
• Authors: Castilhos, R.M.; Souza, A.F.D.; Furtado, G.V.; Gheno, T.C.; Silva, A.L.; Vargas, F.R.; Lima, M.‐A.F.D.; Barsottini, O.; Pedroso, J.L.; Godeiro, C.; Salarini, D.; Pereira, E.T.; Lin, K.; Toralles, M.‐B.; Saute, J.A.M.; Rieder, C.R.; Quintas, M.; Sequeiros, J.; Alonso, I.; Saraiva‐Pereira, M.L.; Jardim, L.B.
• Is Part Of: Clinical genetics. Volume 86:Number 4(2014:Oct.)
• Page Start: 373
• Page End: 377
• Publication Date: 2013-10-17
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12283
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12283-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12283-para-0001">The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD‐like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral‐pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea‐acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of <italic>HTT</italic>, <italic>ATXN2, TBP</italic>, <italic>ATN1, JPH3</italic>, <italic>FTL</italic>, <italic>NKX2‐1/TITF1</italic> and <italic>VPS13A</italic> genes were performed. A total of 104 families were ascertained from 2001 to 2012: 71 families from South, 25 from Southeast and 8 from Northeast Brazil. There were 93 HD, 4 HDL2 and 1 SCA2 families. Eleven of 104 index cases did not have a family history: 10 with HD. Clinical characteristics were similar between HD and non‐HD cases. In HD, the median expanded (CAG)n (range) was 44 (40–81) units; <italic>R</italic><sup>2</sup> between expanded <italic>HTT</italic> and age‐at‐onset (AO) was 0.55 (p = 0.0001, Pearson). HDL2 was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.</p> </abstract>