Fragile x-associated tremor/ataxia syndrome | Zendy

Anne Michel | Zendy; B Claikens | Zendy

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Fragile x-associated tremor/ataxia syndrome

Author(s) -

Anne Michel,

B Claikens

Publication year - 2012

Publication title -

journal of the belgian society of radiology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.232

H-Index - 24

ISSN - 1780-2393

DOI - 10.5334/jbr-btr.599

Subject(s) - medicine , ataxia , essential tremor , radiology , computed tomography , interventional radiology , neurology , medical physics , physical medicine and rehabilitation , psychiatry

Background: A 64-year-old male experiences resting and intentional tremor. The complaints aggravated progressively over the last few years and appeared first at the head and later at the upper limbs. In the end, word finding difficulties, broad-based ataxic gait and erectile dysfunction added to the symptoms. Detailed familial history reveals that 2 nephews of the patient are known to have the fragile X syndrome. Genetic analysis of the FMR1 gene shows the patient carries a pre-mutation expressing 75 repeats.

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