Huntington's disease-like 2 in Brazil--report of 4 patients.
Mov Disord
; 23(15): 2244-7, 2008 Nov 15.
Article
em En
| MEDLINE
| ID: mdl-18816802
Huntington's disease-like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD-like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Huntington
/
Expansão das Repetições de Trinucleotídeos
/
Proteínas de Membrana
Limite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Mov Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2008
Tipo de documento:
Article
País de publicação:
Estados Unidos