Fragile X-Associated Tremor Ataxia Syndrome (Fxtas)

Fragile X-associated tremor ataxia syndrome (FXTAS) is a genetic disease that usually affects men and tremor caused ataxia and dementia. Tremor is a common early symptom that is followed by ataxia, Parkinson’s disease and finally dementia. The diagnosis is confirmed by genetic testing. The tremor can often be alleviated with primidone, propranolol or anti-Parkinson’s drugs.

FXTAS affects about 1/3000 men aged> 50 years. It results from a Premutation (50-200 CGG repeats) in the FMR1 gene for the fragile X mental retardation 1 on the X-chromosome. Fragile X syndrome, the most common form of mental retardation in males, develops when the mutation is fully developed (> 200 repeats).

Fragile X-associated tremor ataxia syndrome (FXTAS) is a genetic disease that usually affects men and tremor caused ataxia and dementia. Tremor is a common early symptom that is followed by ataxia, Parkinson’s disease and finally dementia. The diagnosis is confirmed by genetic testing. The tremor can often be alleviated with primidone, propranolol or anti-Parkinson’s drugs. FXTAS affects about 1/3000 men aged> 50 years. It results from a Premutation (50-200 CGG repeats) in the FMR1 gene for the fragile X mental retardation 1 on the X-chromosome. Fragile X syndrome, the most common form of mental retardation in males, develops when the mutation is fully developed (> 200 repeats). People with the premutation are considered carriers. The daughters (but not the sons) of men with the premutation inherit this. The children of these subsidiaries (of men with FXTAS-premutation grandchildren) inherit the premutation with 50% probability; while it is transmitted from mother to child, the premutation can into a full mutation expand (and therefore a Fragile X syndrome cause). FXTAS develops in about 30% of men with the premutation and <5% of women with the premutation. The risk of developing the condition can increase with age. Symptoms and complaints FXTAS symptoms become noticeable in late adulthood. The more CGG repeats are present, the more severe the symptoms and the sooner is the beginning. Tremor, often misdiagnosed as essential tremor is a common early symptom. The patients develop ataxia (which are progressive deteriorating), then a parkinsonism and eventually dementia. Tips and risks Pull FXTAS in patients in those in which an essential tremor was diagnosed when they develop ataxia or signs of parkinsonism. The dementia begins with the loss of short term memory, slowed thinking and difficulty in problem solving. Depression, anxiety, impatience, hostility and mood lability may occur. Often there is a peripheral neuropathy, which causes the failure of sensors and reflexes in the feet. It can occur dysautonomia (z. B. orthostatic hypotension). In later stages, control of bladder and bowel may be lost. After motor symptoms have developed, life expectancy in the range of about 5 to 25 years is. In women with the premutation the symptoms are usually less pronounced, possibly because the presence of another X chromosome has a protective effect. These women have an increased risk of an early menopause, infertility and dysfunction of the ovaries. Diagnostic genetic tests In V. a. FXTAS patients should be asked if one of her grandson is mentally disabled and whether their daughters had an early menopause or are infertile. In addition, the grandparents of patients with Fragile X syndrome should be asked if they have symptoms that speak for FXTAS; if so, genetic counseling for their children and / or grandchildren is recommended, with the exception of the patient, which is known that he has a fragile X syndrome. There is performed an MRI; thus the characteristic increased signal in the peduncle of cerebellum medius can be identified. The diagnosis is a genetic test confirmed treatment primidone, propranolol or anti-Parkinson's drugs The tremor in FXTAS can often be alleviated with primidone, propranolol or anti-Parkinson's drugs.

Health Life Media Team

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