 |
|
Ataxia, Chorea, Seizures, and DementiaPathologic Features of a Newly Defined Familial Disorder
Thomas W. Farmer, MD;
Martha S. Wingfield, MD;
Sue A. Lynch, MD;
F. Stephen Vogel, MD;
Christine Hulette, MD;
Barry Katchinoff, MD;
Peter L. Jacobson, MD
Arch Neurol. 1989;46(7):774-779.
Abstract
• Five generations of a family exhibit a unique autosomal dominant neurologic disorder characterized by the development (usually between 15 and 30 years of age) of ataxia, seizures, choreiform movements, progressive dementia, and death after 15 to 25 years of illness. Neuropathologic findings in two deceased family members revealed remarkably similar findings, including marked neuronal loss of the dentate nucleus, microcalcification of the globus pallidus, neuroaxonal dystrophy of the nucleus gracilis, and demyelination of the centrum semiovale. The clinical and pathologic findings are closely correlated. Ataxia and chorea are related to severe neuronal loss in the dentate nucleus with calcification in the globus pallidus. Dementia occurs with progressive demyelination of the centrum semiovale, and loss of posterior column function occurs with neuroaxonal dystrophy of the nucleus gracilis and nucleus cuneatus.
Author Affiliations
From the Department of Neurology, School of Medicine, The University of North Carolina at Chapel Hill (Drs Farmer, Wingfield, Lynch, Katchinoff, and Jacobson); and the Department of Pathology, Duke University Medical Center, Durham, NC (Drs Vogel and Hulette).
Footnotes
Accepted for publication January 3, 1989.
Reprint requests to Department of Neurology, School of Medicine, University of North Carolina at Chapel Hill, 751 Burnett Womack Bldg, 229-H, Chapel Hill, NC 27599-7025 (Dr Farmer).
 CiteULike  Connotea  Delicious  Digg  Facebook  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Severe Cerebral White Matter Involvement in a Case of Dentatorubropallidoluysian Atrophy Studied at Autopsy
Munoz et al.
Arch Neurol 2004;61:946-949.
ABSTRACT
| FULL TEXT
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20
Knight et al.
Brain 2004;127:1172-1181.
ABSTRACT
| FULL TEXT
Rethinking Genotype and Phenotype Correlations in Polyglutamine Expansion Disorders
Andrew et al.
Hum Mol Genet 1997;6:2005-2010.
FULL TEXT
Periodic Vestibulocerebellar Ataxia, an Autosomal Dominant Ataxia With Defective Smooth Pursuit, Is Genetically Distinct From Other Autosomal Dominant Ataxias
Damji et al.
Arch Neurol 1996;53:338-344.
ABSTRACT
'Haw River Syndrome' or Dentato-Rubro-Pallido-Luysian Atrophy?
Singer
Arch Neurol 1992;49:13-13.
ABSTRACT
'Haw River Syndrome' or Dentato-Rubro-Pallido-Luysian Atrophy?-Reply
Farmer et al.
Arch Neurol 1992;49:13-14.
ABSTRACT
|
