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Chorea-Acanthocytosis Genotype in the Original Critchley Kentucky Neuroacanthocytosis Kindred

Abstract:

Objective: Todetermine the molecular nature of the neurological disease in the seminal family reported by Critchley et al inthe 1960s, characterized by a hyperkinetic movement disorder and the appearance of acanthocytosis on peripheral blood smear. The eponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinct, disorders, resulting in clinical and diagnostic confusion. Design: DNA analysis. Setting: Molecula...

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Publication status:
Published

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Publisher copy:
10.1001/archneurol.2011.239

Authors


Velayos-Baeza, A More by this author
Holinski-Feder, E More by this author
Neitzel, B More by this author
Critchley, EMR More by this author
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Journal:
ARCHIVES OF NEUROLOGY
Volume:
68
Issue:
10
Pages:
1330-1333
Publication date:
2011-10-05
DOI:
EISSN:
1538-3687
ISSN:
0003-9942
URN:
uuid:150623bb-e55b-4443-9505-aa0c1f72ce42
Source identifiers:
192868
Local pid:
pubs:192868
Language:
English

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