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Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.

Abstract:

Chorea-acanthocytosis is a rare autosomal recessive disorder. Its characteristics are orofacial dyskinesia, hyporeflexia, seizures, aberrant behavior, atrophy of the caudate and putamen, and acanthocytes in the blood with a normal level of lipoproteins. We describe three families with chorea-acanthocytosis. The inheritance pattern was recessive and the average age at onset was 27 years (range, 18-35 years). The presenting symptoms were seizures, aberrant behaviour, chorea, tics, and/or abnorm...

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Publication status:
Published

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Publisher copy:
10.1002/mds.10361

Authors


Bohlega, S More by this author
Al-Jishi, A More by this author
Dobson-Stone, C More by this author
Rampoldi, L More by this author
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Journal:
Movement disorders : official journal of the Movement Disorder Society
Volume:
18
Issue:
4
Pages:
403-407
Publication date:
2003-04-05
DOI:
EISSN:
1531-8257
ISSN:
0885-3185
URN:
uuid:b30fea91-6543-4df6-a6e0-a5b6b157b279
Source identifiers:
38585
Local pid:
pubs:38585

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