doi: 10.1212/wnl.30.3.319.
Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family
- PMID: 7189034
- DOI: 10.1212/wnl.30.3.319
Item in Clipboard
Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family
Neurology.
1980 Mar.
Abstract
A Portuguese family of non-Azorean origin is described as affected by an autosomal dominant inherited ataxia resembling Machado-Joseph disease. Clinical criteria for diagnosis are proposed, based on a complex clinical picture extending from extrapyramidal signs to peripheral amyotrophy associated with secondary, but more specific, minor features such as progressive external ophthalmoplegia, dystonia, intention fasciculation-like movements of facial and lingual muscles, and bulging eyes. Machado-Joseph disease may be more widespread than previously believed.
Similar articles
-
The pathology of Machado-Joseph disease. Report of a possible homozygous case.Acta Neuropathol. 1982;58(1):48-54. doi: 10.1007/BF00692697. Acta Neuropathol. 1982. PMID: 7136516
-
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.Brain. 1982 Mar;105(Pt 1):1-28. doi: 10.1093/brain/105.1.1. Brain. 1982. PMID: 7066668
-
Machado-Joseph-Azorean disease in India.Arch Neurol. 1986 Feb;43(2):142-4. doi: 10.1001/archneur.1986.00520020036014. Arch Neurol. 1986. PMID: 3947253
-
[Machado-Joseph disease: description of 5 members of a family].Arq Neuropsiquiatr. 1991 Jun;49(2):172-9. doi: 10.1590/s0004-282x1991000200010. Arq Neuropsiquiatr. 1991. PMID: 1810235 Review. Portuguese.
-
Machado-Joseph disease: an autosomal dominant motor system degeneration.Mov Disord. 1992;7(3):193-203. doi: 10.1002/mds.870070302. Mov Disord. 1992. PMID: 1620135 Review.
Cited by
-
Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.Clinics (Sao Paulo). 2012;67(5):443-9. doi: 10.6061/clinics/2012(05)07. Clinics (Sao Paulo). 2012. PMID: 22666787 Free PMC article.
-
Hereditary Cerebellar Ataxias: A Korean Perspective.J Mov Disord. 2015 May;8(2):67-75. doi: 10.14802/jmd.15006. Epub 2015 May 31. J Mov Disord. 2015. PMID: 26090078 Free PMC article. Review.
-
Delirium associated with Joseph disease.J Neurol Neurosurg Psychiatry. 1993 Nov;56(11):1207-12. doi: 10.1136/jnnp.56.11.1207. J Neurol Neurosurg Psychiatry. 1993. PMID: 8229032 Free PMC article.
-
Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations.J Genet Couns. 2016 Feb;25(1):79-89. doi: 10.1007/s10897-015-9846-4. Epub 2015 May 19. J Genet Couns. 2016. PMID: 25986962
-
The pathology of Machado-Joseph disease. Report of a possible homozygous case.Acta Neuropathol. 1982;58(1):48-54. doi: 10.1007/BF00692697. Acta Neuropathol. 1982. PMID: 7136516
MeSH terms
LinkOut - more resources
Full Text Sources
