Neuroacanthocytosis: a rare inherited movement disorder.
نویسندگان
چکیده
The chorea-acanthocytosis syndrome (CHAC) is a rare disorder beginning in late adolescent or adult life in association with acanthocytosis, a normal lipid profile and characterized by progressive neurological disease. The inheritance is usually autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. We report here a young man who presented with choreo-athetoid movement, dystonia, tics, symmetrical axonal polyneuropathy with normal cognitive function. The subsequent peripheral blood film reveals acanthocytes > 5%. Diagnosis of neuroacanthocytosis was made.
منابع مشابه
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ورودعنوان ژورنال:
- The Medical journal of Malaysia
دوره 63 2 شماره
صفحات -
تاریخ انتشار 2008