fragile X-associated tremor/ataxia syndrome
Findings
No curated finding names fragile X-associated tremor/ataxia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
Definition from the Mondo Disease Ontology (MONDO:0010382), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Late onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ImpotenceHPOHP:0000802
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Intention tremorHPOHP:0002080
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Mental deteriorationHPOHP:0001268
- 5 of 5 reported patients
- ParkinsonismHPOHP:0001300
- 5 of 5 reported patients
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
Show the remaining 26
- Memory impairmentHPOHP:0002354
- Very frequent (80% to 99% of cases)
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Frequent (30% to 79% of cases)
- AgitationHPOHP:0000713
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Compulsive behaviorsHPOHP:0000722
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FMR1HGNC:3775
- Definitive · G2P · X-linked · 2022
- Strong · Ambry Genetics · X-linked · 2018
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
2 names
Resolves to: fragile X-associated tremor/ataxia syndrome
- Also called
- Fragile X tremor/ataxia syndrome, X-linked dominantFXTAS syndrome