cytosine has been researched along with Machado-Joseph Disease in 1 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 |
|---|---|---|
| "In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the expanded cytosine adenine guanine (CAG) repeat in ATXN3 is the causal mutation, and its length is the main factor in determining the age at onset (AO) of clinical symptoms." | 4.02 | CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3. ( Brunt, ER; de Mattos, EP; de Vries, JJ; Jardim, LB; Kampinga, HH; Leotti, VB; Oliveira, CM; Te Meerman, GJ; Verbeek, DS, 2021) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (100.00) | 2.80 |
| Authors | Studies |
|---|---|
| Leotti, VB | 1 |
| de Vries, JJ | 1 |
| Oliveira, CM | 1 |
| de Mattos, EP | 1 |
| Te Meerman, GJ | 1 |
| Brunt, ER | 1 |
| Kampinga, HH | 1 |
| Jardim, LB | 1 |
| Verbeek, DS | 1 |
1 other study available for cytosine and Machado-Joseph Disease
| Article | Year |
|---|---|
CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3.
Topics: Adenine; Adult; Ataxin-3; Cytosine; Disease Progression; Female; Guanine; Humans; Machado-Joseph Dis | 2021 |