A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family.
Tremor Other Hyperkinet Mov (N Y)
; 32013.
Article
em En
| MEDLINE
| ID: mdl-24255805
ABSTRACT
BACKGROUND:
DYT-5 dystonia usually presents as a dopa-responsive dystonia (DRD) with early or late parkinsonian manifestations and/or dystonic features. Genetically, these patients have been described as having a wide array of independent mutations in the guanosine triphosphate cyclohydrolase 1 gene (GCH1), and these patients may also have a wide array of clinical manifestations.METHODS:
A Colombian family with six affected female members was characterized.RESULTS:
Three members, including the index case, revealed mild parkinsonism, whereas three granddaughters of the index case showed severe generalized dystonia. No men were affected. There was anticipation, and a female predominance was uncovered. Treatment with levodopa was generally effective except in a case with severe skeletal deformities and contractions. Detailed genetic analysis in the index case revealed a new mutation in exon 1 of GCH1 (c.159delG).DISCUSSION:
This study revealed a new mutation of GCH1 that resulted in heterogeneous clinical presentations of DRD within a large family.
Texto completo:
1
Bases de dados:
MEDLINE
País/Região como assunto:
America do sul
/
Colombia
Idioma:
En
Revista:
Tremor Other Hyperkinet Mov (N Y)
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Colômbia