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Autosomal-Dominant Chorea-Acanthocytosis: Report of a Family and Neuropathology

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Neuroacanthocytosis Syndromes

Abstract

We report a family with autosomal-dominant inheritance of chorea-acanthocytosis. Clinical and hematological evaluations were performed on all available family members and neuropathologic examination was performed on one patient. There were variable clinical features of chorea or parkinsonism, and marked cognitive changes. On hematologic analysis there were abnormalities of band 3. Neuropathologic examination revealed severe neuronal loss in the caudate-putamen and intranuclear inclusion bodies throughout the cerebral cortex. These inclusion bodies were immunoreactive for ubiquitin, expanded polyglutamine repeats, and torsinA. This family extends the genetic spectrum of chorea-acanthocytosis to include autosomal-dominant inheritance, possibly due to expanded trinucleotide repeats.

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Author information

Authors and Affiliations

  1. Department of Neurology, Veterans Affairs Medical Center, Bronx, NY

    Ruth H. Walker

  2. Department of Neurology, Mount Sinai School of Medicine, New York, NY

    Ruth H. Walker, Michael J. Walsh, P. Shashidharan & Mitchell F. Brin

  3. Department of Pathology, Mount Sinai School of Medicine, New York, NY

    Susan Morgello

  4. Genetics Ambulatory Service, Nassau County Medical Center, East Meadow, NY

    Barbara Davidoff-Feldman

  5. Departments of Medicine (Division of Hematology), Mount Sinai School of Medicine, New York, NY

    Ari Melnick

  6. Allergan Pharmaceuticals, Irvine, CA

    Mitchell F. Brin

Authors
  1. Ruth H. Walker
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  2. Susan Morgello
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  3. Barbara Davidoff-Feldman
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  4. Ari Melnick
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  5. Michael J. Walsh
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  6. P. Shashidharan
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  7. Mitchell F. Brin
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Editor information

Editors and Affiliations

  1. Neurologische Klinik, Ludwig-Maximilians Universität München, Germany

    Adrian Danek

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© 2004 Springer

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Walker, R.H. et al. (2004). Autosomal-Dominant Chorea-Acanthocytosis: Report of a Family and Neuropathology. In: Danek, A. (eds) Neuroacanthocytosis Syndromes. Springer, Dordrecht. https://doi.org/10.1007/1-4020-2898-9_7

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