Details

Autor(en) / Beteiligte

• Looi, I
• Eow, G B
• Norlia, A M
• Santhi, D P

Titel

Neuroacanthocytosis: a rare inherited movement disorder

Ist Teil von

• Medical journal of Malaysia, 2008-06, Vol.63 (2), p.157-158

Ort / Verlag

Malaysia

Erscheinungsjahr

2008

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.