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 Volume 68, Number 2, January 09, 2007
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NEUROLOGY 2007;68:92-98
© 2007 American Academy of Neurology
Review Articles

Neurologic phenotypes associated with acanthocytosis

R. H. Walker, MB, ChB, PhD, H. H. Jung, MD, C. Dobson-Stone, DPhil, L. Rampoldi, PhD, A. Sano, MD, PhD, F. Tison, MD, PhD and A. Danek, MD

From the Department of Neurology (R.H.W.), James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY; Department of Neurology (H.H.J.), University Hospital Zurich, Switzerland; Garvan Institute of Medical Research (C.D.-S.), Sydney, Australia; Dulbecco Telethon Institute (L.R.), Dibit–San Raffaele Scientific Institute, Milan, Italy; Department of Psychiatry (A.S.), Graduate School of Medical and Dental Sciences, Kagoshima University, Japan; Department of Neurology (F.T.), University of Bordeaux and Neurological Unit, University Hospital of Bordeaux, France; and Neurologische Klinik und Poliklinik (A.D.), Ludwig-Maximilians-Universität München, Germany.

Address correspondence and reprint requests to Dr Walker, Department of Neurology (127), Veterans Affairs Medical Center, Bronx, NY 10468; e-mail: ruth.walker{at}mssm.edu

Abstract.

The term "neuroacanthocytosis" is normally used to refer to autosomal recessive chorea–acanthocytosis and X-linked McLeod syndrome, but there are other movement disorders in which erythrocyte acanthocytosis may also be seen, such as Huntington disease-like 2 and pantothenate kinase-associated neurodegeneration. Disorders of serum lipoproteins such as Bassen–Kornzweig disease form a distinct group of neuroacanthocytosis syndromes in which ataxia is observed, but movement disorders are not seen. Genetic testing has enabled us to distinguish between these disorders, even when there are considerable similarities between phenotypes. Improved detection is important for accurate genetic counseling, for monitoring for complications, and, it is hoped, for implementing causal treatments, once these become available. As in other neurodegenerative conditions, animal models are a promising strategy for the development of such therapies.

Footnotes

See also page 160

This review resulted from discussions at the Second International Neuroacanthocytosis Symposium, supported by the Movement Disorder Society, Montreal Neurological Hospital and Institute, McGill University, The Advocacy for Neuroacanthocytosis Patients, the High Q Foundation, Inc., and John Grooms, Working with Disabled People. Carol Dobson-Stone is supported by an EMBO postdoctoral fellowship.

Abstracts from the Third International Neuroacanthocytosis Symposium (October 28th, 2006; Kyoto, Japan) are currently in press in Movement Disorders.

Disclosure: The authors report no conflicts of interest.

Received May 4, 2006. Accepted in final form August 4, 2006.


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