 |
 |

Family With Dominantly Inherited Ataxia, Amyotrophy, and Peripheral Sensory LossSpinopontine Atrophy or Machado-Joseph Azorean Disease in Another Non-Portuguese Family?
Komyo Eto, MD;
S. M. Sumi, MD;
Thomas D. Bird, MD;
Terry McEvoy-Bush, PhD;
Michael Boehnke, PhD;
Gerard Schellenberg, PhD
Arch Neurol. 1990;47(9):968-974.
Abstract
 |  |
A family of German extraction with progressive ataxia, eye movement abnormalities, peripheral sensory loss, and spinal muscular atrophy of adult onset is described. Three members came to autopsy, and neuropathologically, the major changes included varying degrees of atrophy of the basis pontis and degeneration of the spinocerebellar tracts, Clarke's columns, anterior horn neurons, and fasciculus gracilis. The dentate nucleus was spared, and there was slight neuron loss from the substantia nigra in one patient. Clinically and neuropathologically, our family resembles that reported by Boiler and Segarra as having spinopontine atrophy. However, several kindreds with similar findings have recently been described as having Azorean or Machado-Joseph disease in non-Portuguese families. Comparison of clinical and neuropathological features in spinopontine atrophy and Machado-Joseph disease, both in Portuguese and non-Portuguese families, reveals clinical and pathological similarities and differences between the two. The major differences in our patients include only minor extraocular movement abnormality and absence of protuberant eyes, and muscular rigidity clinically, and the sparing of the substantia nigra and the dentate nucleus neuropathologically. These differences suggest that spinopontine atrophy, as manifested in our family, is distinct from Machado-Joseph disease. Our family showed no linkage to the HLA locus on chromosome 6.
Author Affiliations
From the Departments of Pathology (Laboratory of Neuropathology) (Drs Eto and Sumi) and Medicine (Drs Sumi, Bird, McEvoy-Bush, and Schellenberg), University of Washington School of Medicine, and Veterans Administration Hospital (Drs Sumi, Bird, McEvoy-Bush, and Schellenberg), Seattle; and the Department of Biostatistics, University of Michigan, Ann Arbor (Dr Boehnke).
Footnotes
Accepted for publication February 22, 1990.
Reprint requests to Neuropathology Laboratory RJ-05, University of Washington School of Medicine, Seattle, WA 98195 (Dr Sumi).
CiteULike Connotea Del.icio.us Digg Reddit Technorati Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Thermosensory and mechanosensory perception in human genetic disease
Tan and Katsanis
Hum Mol Genet 2009;18:R146-R155.
ABSTRACT
| FULL TEXT
The Pathogenesis of Machado Joseph Disease: A High Manganese/Low Magnesium Initiated CAG Expansion Mutation in Susceptible Genotypes?
Purdey
J. Am. Coll. Nutr. 2004;23:715S-729S.
ABSTRACT
| FULL TEXT
Was the Ataxia of Pierre Marie Machado-Joseph Disease?: A Reappraisal Based on the Last Autopsy Case From la Salpetriere Hospital
Uchihara et al.
Arch Neurol 2004;61:784-790.
ABSTRACT
| FULL TEXT
Machado-Joseph Disease or Not?
Dawson
Arch Neurol 1991;48:570-570.
ABSTRACT
|