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Chapter 7 - Neuroacanthocytosis


Walker, R H; Jung, H H; Danek, A (2011). Chapter 7 - Neuroacanthocytosis. In: Weiner, W J; Tolosa, E. Hyperkinetic Movement Disorders. Edinburgh: Elsevier, 141-151.

Abstract

The term "neuroacanthocytosis" describes a heterogeneous group of molecularly-defined disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. The clinical presentation of neuroacanthocytosis syndromes typically involves chorea and dystonia, but a range of other movement disorders may be seen. Psychiatric and cognitive symptoms may be prominent. There can be considerable phenotypic overlap; however, features of inheritance, age of onset, neuroimaging and laboratory findings, in addition to the spectrum of central and peripheral neurological abnormalities and extraneuronal involvement, can help to distinguish the specific syndromes. The two core neuroacanthocytosis syndromes, in which acanthocytosis is a typical, although not invariable finding, are autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome. Acanthocytes are found in a smaller proportion of patients with Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration. Additionally, acanthocytosis has been reported in a few patients with other neurological disorders. The causative genes do not appear to be linked by a specific function or pathway, although abnormalities of membrane processing may be implicated. The connection between the erythrocyte membrane abnormality, which results in the characteristic "thorny" protrusions, the vulnerability of the basal ganglia, and the respective genetic mutations, is obscure.

The term "neuroacanthocytosis" describes a heterogeneous group of molecularly-defined disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. The clinical presentation of neuroacanthocytosis syndromes typically involves chorea and dystonia, but a range of other movement disorders may be seen. Psychiatric and cognitive symptoms may be prominent. There can be considerable phenotypic overlap; however, features of inheritance, age of onset, neuroimaging and laboratory findings, in addition to the spectrum of central and peripheral neurological abnormalities and extraneuronal involvement, can help to distinguish the specific syndromes. The two core neuroacanthocytosis syndromes, in which acanthocytosis is a typical, although not invariable finding, are autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome. Acanthocytes are found in a smaller proportion of patients with Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration. Additionally, acanthocytosis has been reported in a few patients with other neurological disorders. The causative genes do not appear to be linked by a specific function or pathway, although abnormalities of membrane processing may be implicated. The connection between the erythrocyte membrane abnormality, which results in the characteristic "thorny" protrusions, the vulnerability of the basal ganglia, and the respective genetic mutations, is obscure.

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Additional indexing

Item Type:Book Section, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Neurology
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2011
Deposited On:10 Nov 2011 14:00
Last Modified:05 Apr 2016 15:04
Publisher:Elsevier
Series Name:Handbook of clinical neurology
Number:100
ISSN:0072-9752
ISBN:978-0-444-52014-2
Publisher DOI:https://doi.org/10.1016/B978-0-444-52014-2.00007-0
Related URLs:http://opac.nebis.ch/F/?local_base=NEBIS&con_lng=GER&func=find-b&find_code=SYS&request=006533562
PubMed ID:21496574

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