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Brief Communication
Nature Genetics  28, 119 - 120 (2001)
doi:10.1038/88821

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Luca Rampoldi1, Carol Dobson-Stone1, Justin P. Rubio2, Adrian Danek3, Richard M. Chalmers4, Nicholas W. Wood4, Christine Verellen5, Xavier Ferrer6, Alessandro Malandrini7, Gian M. Fabrizi8, Robert Brown9, Jeffery Vance10, Margaret Pericak-Vance10, Gabrielle Rudolf11, Sophie Carrè11, Elisa Alonso12, Michela Manfredi13, Andrea H. Németh1, 14 & Anthony P. Monaco1

1  The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, United Kingdom.

2  The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.

3  Neurologische Klinik, Ludwig-Maximilians-Universitãt, Munich, Germany.

4  Department of Clinical Neurology, Institute of Neurology, London, United Kingdom.

5  Unité de Génétique Médicale, Brussels, Belgium.

6  Hôpital du Haut-Lèveque, Centre Hospitalier Universitaire, Bordeaux, France.

7  Istituto di Scienze Neurologiche, Siena, Italy.

8  Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.

9  Cecil B. Day Laboratory for Muscle Research, Charlestown, Massachusetts, USA.

10  Duke University Medical Centre, Durham, North Carolina, USA.

11  Hôpitaux Universitaires, Strasbourg, France.

12  Department of Genetics, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexico.

13  Casa di Cura Poliambulanza Neurologica, Brescia, Italy.

14  Department of Clinical Genetics, Churchill Hospital, Oxford, United Kingdom.

Correspondence should be addressed to Anthony P. Monaco anthony.monaco@well.ox.ac.uk
Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology1, 2 (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease3, 4, 5, 6, 7, 8. We identified a gene in the CHAC critical region9 and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.


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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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