オオヤマ　ゲンコウ   OYAMA Genko   大山　彦光    所属   埼玉医科大学  医学部 脳神経内科    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family.
掲載誌名	正式名：Tremor and other hyperkinetic movements (New York, N.Y.)
掲載区分	国外
巻・号・頁	3
著者・共著者	Oscar Bernal-Pacheco,Genko Oyama,Angela Briton,Andrew B Singleton,Hubert H Fernandez,Ramon L Rodriguez,Irene A Malaty,Michael S Okun
発行年月	2013
概要	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.
DOI	10.7916/D86W98SW
PMID	24255805