Tremor, FXTAS and Klinefelter Syndrome

Tremor, FXTAS and Klinefelter Syndrome

Patients with Klinefelter syndrome have a higher prevalence of postural and action tremor that the general population, but are typically diagnosed before developing tremor. We here report a 68 year old patient diagnosed with Klinefelter syndrome while being tested for FXTAS and review the available literature on this subject.

Fragile X-associated tremor/ataxia syndrome (FXTAS).

Carriers of fragile X mental retardation 1 (FMR1) premutation alleles (55 to 200 CGG repeats) are generally spared the more serious neurodevelopmental problems associated with the full-mutation carriers (>200 repeats) of fragile X syndrome. However, some adult male premutation carriers (55-200 repeats) develop a neurological syndrome involving intention tremor, ataxia, dementia, parkinsonism, a...

The fragile x-associated tremor and ataxia syndrome (FXTAS).

FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia th...

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder that affects carriers, principally males, of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Clinical features of FXTAS include progressive intention tremor and gait ataxia, accompanied by characteristic white matter abnormalities on MRI. The neuropatholog...

Neuroimaging in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)