1. DNA analysis for Fragile X premutation, which in this case revealed 74 repeats (normal < 46)
This is a recently identified tremor/ataxia disorder presenting in older (over 50) men. The tremor is described as an intention one, although in this case it looked very much like essential tremor. The gait ataxia however raised suspicion that this was more than simple essential tremor. Other described features are memory loss, executive function deficits, cognitive decline, parkinsonism features, peripheral neuropathy, lower limb proximal weakness and autonomic dysfunction. This patient responded very well to primidone after other anti tremor agents failed, but his ataxia has slowly deteriorated. Referral for genetic counselling is advised where appropriate.
Jacquemont S, Hagerman RJ, Leehey MA et al. (2004) Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA, 291, 460–9.
Jacquemont S et al (2003) Fragile X Premutation tremor/ataxia syndrome: molecular,
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