Neuroacanthocytosis syndromes - A current overview

R. H. Walker, S. Saiki, A. Danek

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

9 Scopus citations

Abstract

Neuroacanthocytosis syndromes are characterized by the presence of thorny red blood cells and neurodegeneration of the basal ganglia, along with peripheral neuromuscular findings, seizures, and a variety of neuropsychiatric features. In recent years significant progress has been made in understanding the molecular pathophysiology of these disorders; cases are now identified as autosomal recessive chorea-acanthocytosis, X-linked McLeod syndrome, or more rarely, pantothenase kinase-associated neurodegeneration or Huntington's disease-like 2. Molecular analysis of classic reports of neuroacanthocytosis will clarify nomenclature and improve understanding of genotype-phenotype correlations. In addition, there are issues of atypical inheritance patterns which remain to be elucidated. A relatively high incidence of chorea-acanthocytosis in Japan may indicate a genetic founder effect, and has led to significant developments from Japanese researchers.

Original languageEnglish
Title of host publicationNeuroacanthocytosis Syndromes II
PublisherSpringer-Verlag Berlin Heidelberg
Pages3-20
Number of pages18
ISBN (Electronic)9783540716938
ISBN (Print)9783540716921
DOIs
StatePublished - 2008

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