Machado-Joseph disease: An autosomal dominant motor system degeneration

Research output: Contribution to journalArticle

132 Citations (Scopus)

Abstract

Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients have ophthalmoparesis and normal mental status. The neuropathology consists of neuronal loss and gliosis in the substantia nigra, motor cranial nuclei, dentate nucleus of the cerebellum, and variable neuronal loss with gliosis in the cerebellar cortex and neostriatum. The cerebral cortex is normal histologically. The inferior olivary nuclei are normal, thus separating this disease from olivopontocerebellar atrophy (OPCA). The disease has a worldwide distribution including families described in Portugal, the Azores, Spain, Italy, United States, Canada, Brazil, China, Taiwan, and Japan. The gene has not been mapped for this disease but the locus on chromosome 6p mapped for most families with OPCA has been excluded for this disorder.

Original languageEnglish (US)
Pages (from-to)193-203
Number of pages11
JournalMovement Disorders
Volume7
Issue number3
DOIs
StatePublished - 1992

Fingerprint

Machado-Joseph Disease
Olivopontocerebellar Atrophies
Gliosis
Ataxia
Myokymia
Azores
Olivary Nucleus
Spinocerebellar Degenerations
Neostriatum
Ophthalmoplegia
Cerebellar Nuclei
Cerebellar Cortex
Portugal
Substantia Nigra
Taiwan
Cerebral Cortex
Spain
Cerebellum
Italy
Canada

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Machado-Joseph disease : An autosomal dominant motor system degeneration. / Rosenberg, R. N.

In: Movement Disorders, Vol. 7, No. 3, 1992, p. 193-203.

Research output: Contribution to journalArticle

@article{723b55b75a8e4ab1a18dcbbce9ce0fa9,
title = "Machado-Joseph disease: An autosomal dominant motor system degeneration",
abstract = "Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients have ophthalmoparesis and normal mental status. The neuropathology consists of neuronal loss and gliosis in the substantia nigra, motor cranial nuclei, dentate nucleus of the cerebellum, and variable neuronal loss with gliosis in the cerebellar cortex and neostriatum. The cerebral cortex is normal histologically. The inferior olivary nuclei are normal, thus separating this disease from olivopontocerebellar atrophy (OPCA). The disease has a worldwide distribution including families described in Portugal, the Azores, Spain, Italy, United States, Canada, Brazil, China, Taiwan, and Japan. The gene has not been mapped for this disease but the locus on chromosome 6p mapped for most families with OPCA has been excluded for this disorder.",
author = "Rosenberg, {R. N.}",
year = "1992",
doi = "10.1002/mds.870070302",
language = "English (US)",
volume = "7",
pages = "193--203",
journal = "Movement Disorders",
issn = "0885-3185",
publisher = "John Wiley and Sons Inc.",
number = "3",

}

TY - JOUR

T1 - Machado-Joseph disease

T2 - An autosomal dominant motor system degeneration

AU - Rosenberg, R. N.

PY - 1992

Y1 - 1992

N2 - Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients have ophthalmoparesis and normal mental status. The neuropathology consists of neuronal loss and gliosis in the substantia nigra, motor cranial nuclei, dentate nucleus of the cerebellum, and variable neuronal loss with gliosis in the cerebellar cortex and neostriatum. The cerebral cortex is normal histologically. The inferior olivary nuclei are normal, thus separating this disease from olivopontocerebellar atrophy (OPCA). The disease has a worldwide distribution including families described in Portugal, the Azores, Spain, Italy, United States, Canada, Brazil, China, Taiwan, and Japan. The gene has not been mapped for this disease but the locus on chromosome 6p mapped for most families with OPCA has been excluded for this disorder.

AB - Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients have ophthalmoparesis and normal mental status. The neuropathology consists of neuronal loss and gliosis in the substantia nigra, motor cranial nuclei, dentate nucleus of the cerebellum, and variable neuronal loss with gliosis in the cerebellar cortex and neostriatum. The cerebral cortex is normal histologically. The inferior olivary nuclei are normal, thus separating this disease from olivopontocerebellar atrophy (OPCA). The disease has a worldwide distribution including families described in Portugal, the Azores, Spain, Italy, United States, Canada, Brazil, China, Taiwan, and Japan. The gene has not been mapped for this disease but the locus on chromosome 6p mapped for most families with OPCA has been excluded for this disorder.

UR - http://www.scopus.com/inward/record.url?scp=0026708036&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026708036&partnerID=8YFLogxK

U2 - 10.1002/mds.870070302

DO - 10.1002/mds.870070302

M3 - Article

C2 - 1620135

AN - SCOPUS:0026708036

VL - 7

SP - 193

EP - 203

JO - Movement Disorders

JF - Movement Disorders

SN - 0885-3185

IS - 3

ER -