Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0234376 (intention tremor)
 350 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in older premutation (55-200 CGG repeats) carriers of FMR1. The premutation has excessive levels of FMR1 mRNA that lead to toxicity and mitochondrial dysfunction. The clinical features usually begin in the 60 s with an action or intention tremor followed by cerebellar ataxia, although 20% have only ataxia. MRI features include brain atrophy and white matter disease, especially in the middle cerebellar peduncles, periventricular areas, and splenium of the corpus callosum. Neurocognitive problems include memory and executive function deficits, although 50% of males can develop dementia. Females can be less affected by FXTAS because of a second X chromosome that does not carry the premutation. Approximately 40% of males and 16% of female carriers develop FXTAS. Since the premutation can occur in less than 1 in 200 women and 1 in 400 men, the FXTAS diagnosis should be considered in patients that present with tremor, ataxia, parkinsonian symptoms, neuropathy, and psychiatric problems. If a family history of a fragile X mutation is known, then FMR1 DNA testing is essential in patients with these symptoms.
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PMID:Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications. 3257 83

A 33-year-old male presented with sudden onset of dysarthria. MRI showed a single round lesion containing hematomas in varying stages combined with venous malformation in the superior midline portion of the midbrain, indicating a midbrain cavernous angioma. Serial follow-up MRI revealed enlargement of the angioma concomitant with worsening of the dysarthria, ataxia, and intention tremor. Preoperative MRI suggested that the angioma consisted of a cystic hemorrhagic lesion with an 18-mm diameter without hydrocephalus. Since the angioma was located just beneath the floor of the midline portion of the third ventricle, we chose an anterior interhemispheric transcallosal transforaminal approach. After callosotomy, the foramen of Monro was widened by dissecting the choroidal fissure, enabling entry into the third ventricle. The lower part of the massa intermedia was cut;the median floor of the third ventricle was dissected and the angioma was removed. After the surgery, only a transient complication of seesaw nystagmus was observed, caused by damage to the interstitial nucleus of Cajal. As the anterior interhemispheric transcallosal transforaminal approach does not damage both forces, this technique may be a safe and useful approach for superior medial midbrain lesions, located just beneath the floor of the third ventricle.
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PMID:[Surgical Removal of a Superior Medial Midbrain Cavernous Angioma through the Anterior Interhemispheric Transcallosal Transforaminal Approach:A Case Report]. 3283 Jan 37


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