Literature DB >> 8414025

A dominant hereditary ataxia resembling Machado-Joseph disease in Arnhem Land, Australia.

T Burt1, P Blumbergs, B Currie.   

Abstract

A dominant ataxia among four families of the Arnhem Land Aboriginal people of Northern Australia has many clinical features in common with Machado-Joseph disease. Neuropathology on one case showed multiple system involvement, with sparing of the inferior olives and cerebellar cortex, consistent with Machado-Joseph disease. Portuguese ancestry is possible, although not proven.

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Year:  1993        PMID： 8414025     DOI： 10.1212/wnl.43.9.1750

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


  5 in total

1.  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

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.  Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.

Authors:  E C Twist; L K Casaubon; M H Ruttledge; V S Rao; P M Macleod; J Radvany; Z Zhao; R N Rosenberg; L A Farrer; G A Rouleau
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

Review 5.  Cognition in hereditary ataxia.

Authors:  Katrin Bürk
Journal:  Cerebellum       Date:  2007       Impact factor: 3.648
  5 in total

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