Neurologic phenotypes associated with acanthocytosis

R. H. Walker, H. H. Jung, C. Dobson-Stone, L. Rampoldi, A. Sano, F. Tison, A. Danek

Research output: Contribution to journalArticle

99 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)92-98
Number of pages7
JournalNeurology
Volume68
Issue number2
DOIs
Publication statusPublished - Jan 2007

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Neuroacanthocytosis
Abetalipoproteinemia
Nervous System
Movement Disorders
Phenotype
Pantothenate Kinase-Associated Neurodegeneration
Genetic Counseling
Genetic Testing
Ataxia
Lipoproteins
Animal Models
Erythrocytes
Therapeutics
Serum

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Walker, R. H., Jung, H. H., Dobson-Stone, C., Rampoldi, L., Sano, A., Tison, F., & Danek, A. (2007). Neurologic phenotypes associated with acanthocytosis. Neurology, 68(2), 92-98. https://doi.org/10.1212/01.wnl.0000250356.78092.cc

Neurologic phenotypes associated with acanthocytosis. / Walker, R. H.; Jung, H. H.; Dobson-Stone, C.; Rampoldi, L.; Sano, A.; Tison, F.; Danek, A.

In: Neurology, Vol. 68, No. 2, 01.2007, p. 92-98.

Research output: Contribution to journalArticle

Walker, RH, Jung, HH, Dobson-Stone, C, Rampoldi, L, Sano, A, Tison, F & Danek, A 2007, 'Neurologic phenotypes associated with acanthocytosis', Neurology, vol. 68, no. 2, pp. 92-98. https://doi.org/10.1212/01.wnl.0000250356.78092.cc
Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F et al. Neurologic phenotypes associated with acanthocytosis. Neurology. 2007 Jan;68(2):92-98. https://doi.org/10.1212/01.wnl.0000250356.78092.cc
Walker, R. H. ; Jung, H. H. ; Dobson-Stone, C. ; Rampoldi, L. ; Sano, A. ; Tison, F. ; Danek, A. / Neurologic phenotypes associated with acanthocytosis. In: Neurology. 2007 ; Vol. 68, No. 2. pp. 92-98.
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