TitleAutosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.
Publication TypeJournal Article
Year of Publication2002
AuthorsWalker, R H., Morgello S, Davidoff-Feldman B, Melnick A, Walsh M J., Shashidharan P, and Brin M F.
Date Published2002 Apr 09
KeywordsAcanthocytes, Adult, Atrophy, Cerebral Cortex, Chorea, Female, Humans, Inclusion Bodies, Magnetic Resonance Imaging, Male, Middle Aged, Neurons, Pedigree, Peptides

<p><b>BACKGROUND: </b>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.</p><p><b>OBJECTIVE: </b>To describe features of phenotype, inheritance, and neuropathological findings in a family with this disorder.</p><p><b>METHODS: </b>Clinical and hematologic evaluations were performed on all available family members and neuropathological examination was performed on one case.</p><p><b>RESULTS: </b>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.</p><p><b>CONCLUSIONS: </b>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.</p>

Alternate JournalNeurology
PubMed ID11940688
Grant ListU01 MH083545 / MH / NIMH NIH HHS / United States
R24MH59724 / MH / NIMH NIH HHS / United States