Der Nervenarzt
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently characterized adult onset neurodegenerative disorder affecting both male and female (male>female) carriers of premutation CGG repeat expansions of the FMR1 gene. Onset typically occurs after the age of 50 years with a lifetime risk of FXTAS in males of about 1 in 3,000-6,000. Core features include progressive gait ataxia and cerebellar tremor with associated features of cognitive deficits, peripheral neuropathy and dysautonomia. ⋯ Due to the still low level of awareness of FXTAS and its variable clinical picture FXTAS is substantially underdiagnosed. However, confirming the diagnosis is essential for genetic counseling of the patients as the offspring are at risk for fragile X syndrome, premature ovarian insufficiency (POI) or FXTAS. Furthermore, many features of FXTAS can be treated symptomatically.
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The major invasive procedure of the neurologist is the spinal tap. Its most frequent complication is post-lumbar puncture syndrome/headache. The syndrome's leading symptom is posture-dependent headache, which is caused by the prolonged escape of CSF from a dural leak. ⋯ For this reason one should consider this syndrome in all cases of chronic headache. It is also treated with caffeine and an epidural blood patch. If it persists, the leak must be localized by means of radioisotope cisternography, thin-layer MRI, or CT myelography, and then the hole is closed either surgically or by CT-assisted application of fibrin glue.