| Title | Neuroacanthocytosis: a rare inherited movement disorder. | | Author(s) | Looi I, Eow GB, Norlia AM, Santhi DP | | Institution | Department of Medicine, Penang Hospital, Kuala Lumpur. | | Source | Med J Malaysia 2008 Jun; 63(2):157-8. | | Abstract | 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. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 18942308 |
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