title: Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype.
abstract: Huntington's disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea-acanthocytosis (ChAc) among 29 Brazilian patients with a HD-like phenotype. In the group analyzed, we found 3 patients with HDL2 and 2 patients with ChAc. The diagnosis was not reached in 79.3% of the patients. HDL2 was the main cause of the HD-like phenotype in the group analyzed, and is attributable to the African ancestry of this population. However, the etiology of the disease remains undetermined in the majority of the HD negative patients with HD-like phenotype.
authors.affiliation: Department of Neuroscience and Behaviour Sciences, Ribeirão Preto School of Medicine, University of São Paulo, Brazil.
authors.forename: Guilherme Riccioppo
authors.initials: GR
authors.lastname: Rodrigues
authors.forename: Ruth H
authors.initials: RH
authors.lastname: Walker
authors.forename: Benedikt
authors.initials: B
authors.lastname: Bader
authors.forename: Adrian
authors.initials: A
authors.lastname: Danek
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Cécile
authors.initials: C
authors.lastname: Cazeneuve
authors.forename: Odile
authors.initials: O
authors.lastname: Russaouen
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes
authors.forename: Wilson
authors.initials: W
authors.lastname: Marques
authors.forename: Vitor
authors.initials: V
authors.lastname: Tumas
mesh_terms: D000328:Adult; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis* / Q000235:genetics; D054546:Neuroacanthocytosis / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*