منابع مشابه
Hereditary chorea without dementia.
We describe here a distinct syndrome of chorea without dementia, occurring in three generations of a family and inherited as a mendelian dominant.
متن کاملHereditary progressive chorea without dementia.
A family with hereditary non-Huntington's chorea is presented. Transmission was autosomal dominant with variable penetrance. Chorea commenced in childhood and affected predominantly the head, face and upper limbs. Dysarthria appeared later, followed in two family members by elements of an axial dystonia. There was no intellectual impairment. Unlike previously described families, symptoms progre...
متن کاملBenign Hereditary Chorea: An Update
Benign hereditary chorea (BHC) is a childhood-onset, hyperkinetic movement disorder normally with little progression of motor symptoms into adult life. The disorder is caused by mutations to the NKX2.1 (TITF1) gene and also forms part of the "brain-lung-thyroid syndrome", in which additional developmental abnormalities of lung and thyroid tissue are observed. In this review, we summarize the ma...
متن کاملADCY5 Mutations and Benign Hereditary Chorea
Investigators from the Institute of Neurology, London, UK, and centers in Italy, Germany, and Greece, studied 18 unrelated cases of benign hereditary chorea BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations.
متن کاملMutations in TITF-1 are associated with benign hereditary chorea.
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. In contrast to Huntington disease (MIM 143100), BHC is non-progressive and...
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ژورنال
عنوان ژورنال: American Journal of Psychiatry
سال: 1909
ISSN: 0002-953X,1535-7228
DOI: 10.1176/ajp.66.1.129