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From the Department of Neurology (Dr. Walker), Veterans Affairs Medical Center, Bronx; Departments of Neurology (Drs. Walker, Walsh, Shashidharan, and Brin), Pathology (Dr. Morgello), and Medicine, Division of Hematology (Dr. Melnick), Mount Sinai School of Medicine, New York; and Genetics Ambulatory Service (B. Davidoff-Feldman), Nassau County Medical Center, East Meadow, NY.
Address correspondence and reprint requests to Dr. Ruth H. Walker, Department of Neurology, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029; e-mail: ruth.walker{at}mountsinai.org
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.
This article has been cited by other articles:
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  R. H. Walker, H. H. Jung, C. Dobson-Stone, L. Rampoldi, A. Sano, F. Tison, and A. Danek Neurologic phenotypes associated with acanthocytosis Neurology, January 9, 2007; 68(2): 92 - 98. [Abstract] [Full Text] [PDF]
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 D J Nicholl, I Sutton, M T Dotti, S G Supple, A Danek, and M Lawden White matter abnormalities on MRI in neuroacanthocytosis J. Neurol. Neurosurg. Psychiatry, August 1, 2004; 75(8): 1200 - 1201. [Full Text] [PDF]
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S. Saiki, K. Sakai, Y. Kitagawa, M. Saiki, S. Kataoka, and G. Hirose Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis Neurology, December 9, 2003; 61(11): 1614 - 1616. [Abstract] [Full Text] [PDF]
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R. H. Walker, A. Rasmussen, D. Rudnicki, S. E. Holmes, E. Alonso, T. Matsuura, T. Ashizawa, B. Davidoff-Feldman, and R. L. Margolis Huntington's disease-like 2 can present as chorea-acanthocytosis Neurology, October 14, 2003; 61(7): 1002 - 1004. [Abstract] [Full Text] [PDF]
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