对29例具有亨廷顿舞蹈病样表型的巴西患者进行临床和基因分析。

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype.

作者信息

Rodrigues Guilherme Riccioppo, Walker Ruth H, Bader Benedikt, Danek Adrian, Brice Alexis, Cazeneuve Cécile, Russaouen Odile, Lopes-Cendes Iscia, Marques Wilson, Tumas Vitor

机构信息

Department of Neuroscience and Behaviour Sciences, Ribeirão Preto School of Medicine, University of São Paulo, Brazil.

出版信息

Arq Neuropsiquiatr. 2011 Jun;69(3):419-23. doi: 10.1590/s0004-282x2011000400002.

DOI:10.1590/s0004-282x2011000400002

PMID:21755114

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.

摘要

亨廷顿舞蹈症（HD）是一种神经退行性疾病，其特征为舞蹈症、行为障碍和痴呆，由HTT基因中CAG三核苷酸的病理性扩增引起。已发现数名患者具有典型的HD表型，但无预期的突变。本研究的目的是评估29名具有HD样表型的巴西患者中是否存在亨廷顿舞蹈症样2型（HDL2）、脊髓小脑共济失调（SCA）1型、SCA2型、SCA3型、SCA7型、齿状核红核苍白球路易体萎缩症（DRPLA）和舞蹈症-棘红细胞增多症（ChAc）等疾病。在分析的组中，我们发现3例HDL2患者和2例ChAc患者。79.3%的患者未明确诊断。HDL2是分析组中HD样表型的主要原因，这归因于该人群的非洲血统。然而，大多数具有HD样表型的HD阴性患者的疾病病因仍未确定。