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Neurology. 2002 Apr 9;58(7):1031-7.

Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.

Author information

1
Department of Neurology, Veterans Affairs Medical Center, Bronx, NY, USA. ruth.walker@mountsinai.org

Abstract

BACKGROUND:

The term chorea-acanthocytosis describes a heterogeneous group of neurodegenerative disorders with variable clinical features and modes of inheritance. The characteristic acanthocytic appearance of red blood cells is attributed to abnormalities of a membrane protein, band 3, although the relationship between this and the neurodegenerative process has yet to be determined.

OBJECTIVE:

To describe features of phenotype, inheritance, and neuropathological findings in a family with this disorder.

METHODS:

Clinical and hematologic evaluations were performed on all available family members and neuropathological examination was performed on one case.

RESULTS:

Autosomal dominant inheritance was evident, with variable clinical features of chorea or parkinsonism, marked cognitive changes, but no seizures or peripheral neurologic abnormalities. Abnormalities of band 3 were demonstrated on gel electrophoresis of red blood cell membranes. Neuropathological examination revealed severe neuronal loss of the caudate-putamen and intranuclear inclusion bodies in many areas of the cerebral cortex. These inclusion bodies were immunoreactive for ubiquitin, expanded polyglutamine repeats, and torsinA.

CONCLUSIONS:

This family extends the genetic spectrum of chorea-acanthocytosis to include autosomal dominant inheritance, possibly due to expanded trinucleotide repeats. Intraneuronal inclusion bodies have recently been associated with a wide range of inherited neurodegenerative disorders and may provide a clue to etiopathogenesis, in addition to potentially indicating a function of torsinA.

PMID:
11940688
[Indexed for MEDLINE]
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