Literature DB >> 6681562

Joseph disease in a non-Portuguese family.

T Sakai, M Ohta, H Ishino.   

Abstract

We studied four patients with Joseph disease in a Japanese family. There were two clinical types in the family. One was characterized by pyramidal and cerebellar signs with or without extrapyramidal signs; the other, by cerebellar signs, loss of tendon reflexes, and peripheral sensory loss. The family tree indicated autosomal-dominant inheritance. Neuropathologic examination revealed marked degeneration of the substantia nigra, dentate nuclei, Clarke column, and anterior horn cells of the spinal cord. This is the first report of pathologically proven Joseph disease in a non-Portuguese family.

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Year:  1983        PMID： 6681562     DOI： 10.1212/wnl.33.1.74

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  14 in total

Review 1.  Toward understanding Machado-Joseph disease.

Authors:  Maria do Carmo Costa; Henry L Paulson
Journal:  Prog Neurobiol       Date:  2011-11-23       Impact factor: 11.685

2.  A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.

Authors:  A L DeStefano; L A Cupples; P Maciel; C Gaspar; J Radvany; D M Dawson; L Sudarsky; L Corwin; P Coutinho; P MacLeod
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

3.  Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients.

Authors:  P Maciel; I Lopes-Cendes; S Kish; J Sequeiros; G A Rouleau
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

4.  Sulfamethoxazole-trimethoprim double-blind, placebo-controlled, crossover trial in Machado-Joseph disease: sulfamethoxazole-trimethoprim increases cerebrospinal fluid level of biopterin.

Authors:  T Sakai; T Matsuishi; S Yamada; H Komori; H Iwashita
Journal:  J Neural Transm Gen Sect       Date:  1995

5.  Ubiquitin-immunoreactive inclusions in anterior horn cells and hypoglossal neurons in a case with Joseph's disease.

Authors:  T Suenaga; H Matsushima; S Nakamura; I Akiguchi; J Kimura
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

6.  Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.

Authors:  L P Ranum; M Y Chung; S Banfi; A Bryer; L J Schut; R Ramesar; L A Duvick; A McCall; S H Subramony; L Goldfarb
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

7.  Delirium associated with Joseph disease.

Authors:  Y Fukutani; K Katsukawa; R Matsubara; K Kobayashi; I Nakamura; N Yamaguchi
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-11       Impact factor: 10.154

8.  Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14.

Authors:  P St George-Hyslop; E Rogaeva; J Huterer; T Tsuda; J Santos; J L Haines; K Schlumpf; E I Rogaev; Y Liang; D R McLachlan
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

9.  Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus.

Authors:  E C Twist; L A Farrer; P M Macleod; J Radvany; S Chamberlain; R N Rosenberg; G A Rouleau
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

10.  Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

Authors:  P Maciel; C Gaspar; A L DeStefano; I Silveira; P Coutinho; J Radvany; D M Dawson; L Sudarsky; J Guimarães; J E Loureiro
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025
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