TY - CHAP
T1 - Neuroacanthocytosis syndromes - A current overview
AU - Walker, R. H.
AU - Saiki, S.
AU - Danek, A.
N1 - Publisher Copyright:
© 2008 Springer-Verlag Berlin Heidelberg. All rights are reserved.
PY - 2008
Y1 - 2008
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84855961550&partnerID=8YFLogxK
U2 - 10.1007/978-3-540-71693-8_1
DO - 10.1007/978-3-540-71693-8_1
M3 - Chapter
AN - SCOPUS:84855961550
SN - 9783540716921
SP - 3
EP - 20
BT - Neuroacanthocytosis Syndromes II
PB - Springer-Verlag Berlin Heidelberg
ER -