Fragile x-associated tremor/ataxia syndrome

Abstract

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.

Keywords

• Brain