منابع مشابه
Hereditary 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 کاملIs methylphenidate-induced chorea responsive to chlorpromazine?
Case Report A 6-year-old girl was seen for acute involuntary movements. She had psychomotor developmental delay without a definite diagnosis after an extensive unrevealing investigation. As her parents were firstdegree relatives, a genetic basis for her disease was suspected. Clinically, besides late psychological and motor acquisitions, she had discrete macrocephalus, congenital mild ataxia, a...
متن کاملMutation in GM2A Leads to a Progressive Chorea-dementia Syndrome
BACKGROUND The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes. METHODS We report a Saudi family with a neurodegenerative course dominated by progressive chorea and dementia in whom we performed homozygosity mapping and whole exome sequencing....
متن کاملAcute and chronic chorea in childhood.
This review discusses diagnostic evaluation and management of chorea in childhood. Chorea is an involuntary, hyperkinetic movement disorder characterized by continuous, jerky, or flowing movement fragments, with irregular timing and direction. It tends to be enhanced by voluntary actions and generally causes interference with fine motor function. The diagnostic evaluation begins with accurate c...
متن کاملChorea-ballismus in acute non-ketotic hyperglycaemia.
Diabetic patients during hyperglycaemic crises may present a rare syndrome characterised by a typical triad: unilateral involuntary movements (hemichoreahemiballism), radiological contralateral striatal abnormality, and rapid resolution of symptoms after glycae - mic correction. This study reports a series of patients showing less usual aspects and also discusses the pathophysiology of this cli...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2006
ISSN: 0022-3050
DOI: 10.1136/jnnp.2005.069534