"Machado-Joseph Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
- Machado-Joseph Disease
- Disease, Machado-Joseph
- Machado Joseph Disease
- Joseph Azorean Disease
- Disease, Joseph Azorean
- Joseph Disease
- Disease, Joseph
- Spinocerebellar Ataxia Type 3
- Striatonigral Degeneration, Autosomal Dominant
- Autosomal Dominant Striatonigral Degeneration
- Azorean Disease, Nervous System
- Machado-Joseph Azorean Disease
- Disease, Machado-Joseph Azorean
- Machado Joseph Azorean Disease
- Nervous System Azorean Disease
- Spinocerebellar Ataxia-3
- Type 3 Spinocerebellar Ataxia
- Azorean Disease (Machado-Joseph)
- Azorean Disease (Machado Joseph)
- Disease, Azorean (Machado-Joseph)
- Spinocerebellar Atrophy Type 3
- Azorean Neurologic Disease
- Disease, Azorean Neurologic
- Neurologic Disease, Azorean
- Nigrospinodentatal Degeneration
- Degeneration, Nigrospinodentatal
- Degenerations, Nigrospinodentatal
- Nigrospinodentatal Degenerations
- Spinocerebellar Ataxia 3
- 3s, Spinocerebellar Ataxia
- Ataxia 3, Spinocerebellar
- Ataxia 3s, Spinocerebellar
- Spinocerebellar Ataxia 3s
- Spinocerebellar Atrophy III
- Atrophy III, Spinocerebellar
- Atrophy IIIs, Spinocerebellar
- III, Spinocerebellar Atrophy
- Spinocerebellar Atrophy IIIs
- Azorean Ataxia
- Azorean Disease
- Disease, Azorean
Machado-Joseph Disease Type IV
- Machado-Joseph Disease Type IV
- Machado Joseph Disease Type IV
- Type IV Machado-Joseph Disease
- Type IV Machado Joseph Disease
Machado-Joseph Disease Type III
- Machado-Joseph Disease Type III
- Machado Joseph Disease Type III
- Type III Machado-Joseph Disease
- Type III Machado Joseph Disease
Machado-Joseph Disease Type I
- Machado-Joseph Disease Type I
- Machado Joseph Disease Type I
- Type I Machado-Joseph Disease
- Type I Machado Joseph Disease
Machado-Joseph Disease Type II
- Machado-Joseph Disease Type II
- Machado Joseph Disease Type II
- Type II Machado-Joseph Disease
- Type II Machado Joseph Disease
Below are MeSH descriptors whose meaning is more general than "Machado-Joseph Disease".
Below are MeSH descriptors whose meaning is more specific than "Machado-Joseph Disease".
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Below are the most recent publications written about "Machado-Joseph Disease" by people in Profiles.
Igarashi S, Takiyama Y, Cancel G, Rogaeva EA, Sasaki H, Wakisaka A, Zhou YX, Takano H, Endo K, Sanpei K, Oyake M, Tanaka H, Stevanin G, Abbas N, D?rr A, Rogaev EI, Sherrington R, Tsuda T, Ikeda M, Cassa E, Nishizawa M, Benomar A, Julien J, Weissenbach J, Wang GX, Agid Y, St George-Hyslop PH, Brice A, Tsuji S. Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum Mol Genet. 1996 Jul; 5(7):923-32.
Takiyama Y, Igarashi S, Rogaeva EA, Endo K, Rogaev EI, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M, et al. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet. 1995 Jul; 4(7):1137-46.
St George-Hyslop P, Rogaeva E, Huterer J, Tsuda T, Santos J, Haines JL, Schlumpf K, Rogaev EI, Liang Y, McLachlan DR, et al. Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. Am J Hum Genet. 1994 Jul; 55(1):120-5.