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Fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder associated with problems of movement, memory, and the autonomic nervous system. It is related to the disease fragile X syndrome, although FXTAS is a clinically distinct syndrome. In fragile X syndrome (FXS),the fragile X mental retardation 1 gene, FMR1, is silenced; in FXTAS FMR1 is overexpressed and interferes with brain function.
Both FXS and FXTAS are caused by a trinucleotide repeat expansion in FMR1. This CGG repeat expansion is smaller in FXTAS: the disease only occurs in individuals with a Fragile X premutation. It most often occurs in men, but can present in women. There is no cure for FXTAS, but several of the symptoms can be managed with medication.〔Amiri et al. Fragile X–Associated Tremor/Ataxia Syndrome. Archives of Neurology. VOL 65 (NO. 1), Jan 2008〕
==Symptoms==
The physical symptoms of FXTAS include an intention tremor, ataxia, and parkinsonism. This includes small, shuffling steps, muscle rigidity and slowed speech, as well as neuropathic symptoms. As the disease progresses to the more advanced stages, an individual with FXTAS is also at risk of autonomic dysfunction: hypertension, bowel and bladder dysfunction, and impotence.
An individual with FXTAS may also exhibit the following symptoms: a decrease in cognition, which includes diminishing short-term memory and executive function skills, declining math and spelling abilities and decision-making abilities. FXTAS may also result in changes in personality, due to alterations of the limbic area in the brain. This includes increased irritability, angry outbursts, and impulsive behaviour〔
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