Article
Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).
Neurology - 13 Jun 2006
Arata H, Takashima H, Hirano R, Tomimitsu H, Machigashira K, Izumi K, Kikuno M, Ng A R, Umehara F, Arisato T, Ohkubo R, Nakabeppu Y, Nakajo M, Osame M, Arimura K
Abstract excerpt
OBJECTIVE: To determine the clinical and radiologic features of Gerstmann-Sträussler-Scheinker syndrome caused by Pro102Leu mutation in PRNP (GSS102). METHODS: The authors report 11 patients (nine families) with clinically and radiologically diagnosed GSS102. RESULTS: All patients showed mild gait disturbance, dysesthesia and hyporeflexia of the lower legs, and truncal ataxia, and 9 of 11 patients showed proximal...
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