 Machado-Joseph Disease
"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)
| Descriptor ID |
D017827
|
| MeSH Number(s) |
C10.228.140.252.190.530.530 C10.228.140.252.700.700.500 C10.228.854.787.875.500 C10.574.500.825.700.500 C10.597.350.090.500.530.530 C16.320.400.780.875.500
|
| Concept/Terms |
Machado-Joseph Disease- Machado-Joseph Disease
- Disease, Machado-Joseph
- Machado Joseph Disease
- Azorean Disease (Machado-Joseph)
- Azorean Disease (Machado Joseph)
- Disease, Azorean (Machado-Joseph)
- Azorean Disease, Nervous System
- Azorean Neurologic Disease
- Disease, Azorean Neurologic
- Neurologic Disease, Azorean
- Joseph Azorean Disease
- Disease, Joseph Azorean
- Joseph Disease
- Disease, Joseph
- Machado-Joseph Azorean Disease
- Disease, Machado-Joseph Azorean
- Machado Joseph Azorean Disease
- Nervous System Azorean Disease
- Nigrospinodentatal Degeneration
- Degeneration, Nigrospinodentatal
- Degenerations, Nigrospinodentatal
- Nigrospinodentatal Degenerations
- Spinocerebellar Ataxia 3
- 3, Spinocerebellar Ataxia
- 3s, Spinocerebellar Ataxia
- Ataxia 3, Spinocerebellar
- Ataxia 3s, Spinocerebellar
- Spinocerebellar Ataxia 3s
- Spinocerebellar Ataxia Type 3
- Spinocerebellar Ataxia-3
- Spinocerebellar Atrophy III
- Atrophy III, Spinocerebellar
- Atrophy IIIs, Spinocerebellar
- III, Spinocerebellar Atrophy
- IIIs, Spinocerebellar Atrophy
- Spinocerebellar Atrophy IIIs
- Spinocerebellar Atrophy Type 3
- Striatonigral Degeneration, Autosomal Dominant
- Type 3 Spinocerebellar Ataxia
- Autosomal Dominant Striatonigral Degeneration
- Azorean Disease
- Disease, Azorean
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
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 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 III- Machado-Joseph Disease Type III
- Machado Joseph Disease Type III
- Type III Machado-Joseph Disease
- Type III 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".
This graph shows the total number of publications written about "Machado-Joseph Disease" by people in UAMS Profiles by year, and whether "Machado-Joseph Disease" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2021 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Machado-Joseph Disease" by people in Profiles over the past ten years.
-
Koike Y, Jansen-West KR, Hanna Al-Shaikh R, Carlomagno Y, Song Y, Dunmore JA, LeDoux MS, Friedman JH, Pena AB, Uitti RJ, Zaremba J, van Gerpen JA, Pfeiffer RF, Veerappan V, Aiba I, Hashimoto R, Giles SS, Shah JS, Tipton PW, Huang JF, Wierenga KJ, Aasly J, Fryer JD, Petrucelli L, Wszolek ZK, Prudencio M. Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3. Parkinsonism Relat Disord. 2021 08; 89:151-154.
-
Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Janu?rio C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3. Sci Transl Med. 2020 10 21; 12(566).
|
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|