choline has been researched along with Machado-Joseph Disease in 5 studies
Machado-Joseph Disease: 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)
| Excerpt | Relevance | Reference |
|---|---|---|
| "SCA3 or Machado-Joseph disease (MJD) is the commonest dominant inherited ataxia disease, with pathological phenotypes apparent with a CAG triplet repeat length of 61-84." | 1.32 | Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3. ( Cemal, CK; Griffin, JL; Pook, MA, 2004) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (40.00) | 29.6817 |
| 2010's | 2 (40.00) | 24.3611 |
| 2020's | 1 (20.00) | 2.80 |
| Authors | Studies |
|---|---|
| McLoughlin, HS | 1 |
| Gundry, K | 1 |
| Rainwater, O | 1 |
| Schuster, KH | 1 |
| Wellik, IG | 1 |
| Zalon, AJ | 1 |
| Benneyworth, MA | 1 |
| Eberly, LE | 1 |
| Öz, G | 1 |
| Xing, W | 1 |
| Liao, X | 1 |
| Guan, T | 1 |
| Xie, F | 1 |
| Shen, L | 2 |
| Liao, W | 2 |
| Wang, X | 1 |
| Lei, L | 1 |
| Liao, Y | 1 |
| Zhou, J | 1 |
| Yuan, Y | 1 |
| Wang, J | 1 |
| Jiang, H | 1 |
| Tang, B | 1 |
| Griffin, JL | 1 |
| Cemal, CK | 1 |
| Pook, MA | 1 |
| D'Abreu, A | 1 |
| França, M | 1 |
| Appenzeller, S | 1 |
| Lopes-Cendes, I | 1 |
| Cendes, F | 1 |
5 other studies available for choline and Machado-Joseph Disease
| Article | Year |
|---|---|
Antisense Oligonucleotide Silencing Reverses Abnormal Neurochemistry in Spinocerebellar Ataxia 3 Mice.
Topics: Animals; Biomarkers; Choline; Glutamine; Humans; Machado-Joseph Disease; Mice; Neurochemistry; Oligo | 2023 |
[Value of 1H-MRS on SCA3/MJD diagnosis and clinical course].
Topics: Aspartic Acid; Brain Stem; Case-Control Studies; Cerebellar Nuclei; Cerebellum; Choline; Creatine; H | 2017 |
Magnetic resonance spectroscopy of the cerebellum in patients with spinocerebellar ataxia type 3/Machado-Joseph disease.
Topics: Adult; Aspartic Acid; Case-Control Studies; Cerebellum; Choline; Creatine; Female; Humans; Machado-J | 2011 |
Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3.
Topics: Animals; Ataxin-3; Brain; Cerebellum; Choline; Disease Models, Animal; gamma-Aminobutyric Acid; Gluc | 2004 |
Axonal dysfunction in the deep white matter in Machado-Joseph disease.
Topics: Adult; Aged; Aspartic Acid; Case-Control Studies; Choline; Creatine; Female; Humans; Machado-Joseph | 2009 |