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Neuroacanthocytosis: A Rare Inherited Movement Disorder

Looi, I., and Eow, G.B., and Norlia A.M., and Santhi, D.P., (2008) Neuroacanthocytosis: A Rare Inherited Movement Disorder. Medical Journal of Malaysia, 63 (2). pp. 157-158. ISSN 0300-5283

Full text not available from this repository.

Affiliations

Penang Hospital. Dept. of Medicine. Neurology Unit.
Penang Hospital. Dept. of Medicine. Neurology Unit.
Penang Hospital. Dept. of Pathology.
Hospital Kuala Lumpur. Dept. of Neurology.

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.

Item Type:Journal
Keywords:Chorea-acanthocytosis syndrome, rare disorder, progressive neurological disease, Autosomal Recessive
Subjects:R Medicine, Dentistry, Pharmacy, Nursing
ID Code:4673

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4. Saiki S, Sakai K, Kitagawa Y, Saiki M, Kataoka S, Hirose G. Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis. Neurology. 2003; 61: 1614-16.

5. Walker RH, Jung HH, Dobson-Stone C, et al. Neurologic phenotypes associated with acanthocytosis. Neurology. 2007; 68: 92-98.

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