fragile X-associated tremor/ataxia syndrome
Information
- Disease name
- fragile X-associated tremor/ataxia syndrome
- Disease ID
- DOID:0050879
- Description
- "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA." [url:http\://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome, url:http\://omim.org/entry/300623, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256, url:https\://www.ncbi.nlm.nih.gov/pubmed/18195136]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00584948 | Completed | N/A | Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome | September 2007 | September 2012 |
| NCT02603926 | Completed | Phase 2 | Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone | October 2015 | December 2017 |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 |
- Disase is a (Disease Ontology)
- DOID:0050953
- Cross Reference ID (Disease Ontology)
- MIM:300623
- Exact Synonym (Disease Ontology)
- FXTAS syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 93256