title: Neurologic phenotypes associated with acanthocytosis.
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.
authors.affiliation: Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY 10468, USA. ruth.walker@mssm.edu
authors.forename: R H
authors.initials: RH
authors.lastname: Walker
authors.forename: H H
authors.initials: HH
authors.lastname: Jung
authors.forename: C
authors.initials: C
authors.lastname: Dobson-Stone
authors.forename: L
authors.initials: L
authors.lastname: Rampoldi
authors.forename: A
authors.initials: A
authors.lastname: Sano
authors.forename: F
authors.initials: F
authors.lastname: Tison
authors.forename: A
authors.initials: A
authors.lastname: Danek
mesh_terms: D000050:Acanthocytes; D002819:Chorea / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006402:Hematologic Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D015994:Incidence; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors
chemical_list: D009419:Nerve Tissue Proteins