Literature DB >> 8035934

Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel.

H Goldberg-Stern1, R D'jaldetti, E Melamed, N Gadoth.   

Abstract

Machado-Joseph disease (MJD), an autosomal dominant, progressive, multisystem degeneration with cerebellar ataxia as the cardinal manifestation, usually affects individuals of Portuguese ancestry from the Azorean Islands. Cases have been reported in families from Japan, India, China, Brazil, and Australia. We report the first Israeli Jewish family with MJD, originating from a remote village near Ta'izz in Yemen.

Entities:  

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Year:  1994        PMID： 8035934     DOI： 10.1212/wnl.44.7.1298

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


  7 in total

1.  Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.

Authors:  G Stevanin; A S Lebre; C Mathieux; G Cancel; N Abbas; O Didierjean; A Dürr; Y Trottier; Y Agid; A Brice
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

2.  Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.

Authors:  G Stevanin; E Cassa; G Cancel; N Abbas; A Dürr; E Jardim; Y Agid; P S Sousa; A Brice
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

3.  Selective Procedural Memory Impairment but Preserved Declarative Memory in Spinocerebellar Ataxia Type 3.

Authors:  Zohar Elyoseph; Matti Mintz; Eli Vakil; Roy Zaltzman; Carlos R Gordon
Journal:  Cerebellum       Date:  2020-04       Impact factor: 3.847

4.  Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel.

Authors:  R Djaldetti; S Hassin-Baer; M J Farrer; C Vilariño-Güell; O A Ross; V Kolianov; S Yust-Katz; T A Treves; Y Barhum; M Hulihan; E Melamed
Journal:  J Neural Transm (Vienna)       Date:  2008-07-30       Impact factor: 3.575

5.  Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease).

Authors:  C R Gordon; V Joffe; G Vainstein; N Gadoth
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-10       Impact factor: 10.154

6.  Spinocerebellar ataxia type 3 in Israel: phenotype and genotype of a Jew Yemenite subpopulation.

Authors:  Roy Zaltzman; Reuven Sharony; Colin Klein; Carlos R Gordon
Journal:  J Neurol       Date:  2016-08-08       Impact factor: 4.849

Review 7.  Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature.

Authors:  Evelyn Lindsay; Elsdon Storey
Journal:  Brain Sci       Date:  2017-07-14
  7 in total

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