کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1914115 1535149 2012 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea
چکیده انگلیسی

A Japanese family with a novel nonsense mutation in the TITF-1 gene (p.Y98X) is described. The proband showed severe generalized chorea, delayed motor development, subnormal intelligence, congenital hypothyroidism, bronchial asthma, and a history of pulmonary infection, all of which are characteristic features of Brain–Thyroid–Lung syndrome. On the other hand, her brother and mother showed a mild benign hereditary chorea (BHC) phenotype with congenital hypothyroidism. Intrafamilial phenotypic variation is common in BHC/Brain–Thyroid–Lung syndrome and suggests the existence of other genetic or environmental factors regulating TITF-1 function. Although choreic movement in BHC/Brain–Thyroid–Lung syndrome is recognized as non-progressive, the proband showed re-exacerbation of choreic movement at puberty. The dopamine agonist, ropinirole hydrochloride, reduced her choreic movements, suggesting that levodopa and/or dopamine agonists may compensate for underdeveloped dopaminergic pathways in this disorder.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 313, Issues 1–2, 15 February 2012, Pages 189–192
نویسندگان
, , , , ,