Tremor and other hyperkinetic movements (New York, N.Y.) · 2013
A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family.
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Bernal-Pacheco Oscar, Oyama Genko, Briton Angela, Singleton Andrew B, Fernandez Hubert H, Rodriguez Ramon L, Malaty Irene A, Okun Michael S
Аннотация
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.
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.