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Neuroacanthocytosis Masquerading as Huntington's Disease: CT/MRI Findings
Author(s) -
Kutcher Jeffrey S.,
Kahn Marc J.,
Andersson Hans C.,
Foundas Anne L.
Publication year - 1999
Publication title -
journal of neuroimaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.822
H-Index - 64
eISSN - 1552-6569
pISSN - 1051-2284
DOI - 10.1111/jon199993187
Subject(s) - choreiform movement , medicine , neuroimaging , huntington's disease , disease , pathology , caudate nucleus , neuroscience , psychiatry , psychology , parkinson's disease , dyskinesia
Neuroacanthocytosis (NA) is a rare, degenerative, presumably autosomal‐recessive disorder of the nervous system presenting in adulthood and is associated with acanthocytosis of the peripheral blood. The clinical spectrum of NA shares similarities with Huntington's disease (HD), including dyskinetic choreiform movements and degeneration of the caudate nucleus. A woman presented with choreiform movements and was given a presumed diagnosis of HD. Neuroimaging studies were consistent with HD. She lacked the genetic marker for HD, and further evaluation revealed acanthocytosis of the peripheral blood. The case illustrates the similarities and differences in the clinical presentations and neuroimaging studies of these two disease entities, emphasizing the need for a careful clinical evaluation.