Neurology · Neurology / Movement disorders; Neurogenetics
Fragile X-associated tremor/ataxia syndrome
also: FXTAS
Late-onset neurodegenerative disorder in FMR1 premutation carriers.
- Specialty
- Neurology
- Subspecialty
- Neurology / Movement disorders; Neurogenetics
- Sex & age distribution
- Male: more common and more severe; Female: less often and milder; Children: no, onset after 50 years
- Gene(s) involved
- FMR1
- Alternative names & eponyms
- FXTAS
Etiology & mechanism
CGG repeat expansion of 55–200 causes toxic RNA gain of function.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Fragile X-associated tremor/ataxia syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Abetalipoproteinemia
neuropathy
1 shared
CARASIL
cognitive decline
1 shared
Chediak–Higashi syndrome
neuropathy
1 shared
Chédiak–Higashi syndrome
neuropathy
1 shared
Chorea-acanthocytosis
neuropathy
1 shared
Churg–Strauss syndrome
neuropathy
1 shared
Eosinophilia–myalgia syndrome
neuropathy
1 shared
Gillespie syndrome
cerebellar ataxia
1 shared
Hereditary spastic paraplegia type 15
cognitive decline
1 shared
Huntington disease phenocopy syndrome
cognitive decline
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