Early clinical signs of GSS syndrome(Pro102Leu)

Arata H. et al. Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu)

There are seven types of inherited prion disease,of which the above is but one accounting for about 28 % of cases. Classic signs of GSS102 are cerebellar signs and slowly progressive dementia, but the ataxia occurs late. Early findings in 11 patients (9 families) are described, including mild gait disturbance, dysesthesias and hyporeflexias of the legs, dysarthria and truncal ataxia and 9/11 had proximal leg weakness. None were demented early. MRI/EEG were normal with abnormal SPECT scans. NCS/EMG were normal. On initial exam only three patients had mild limb ataxia and three others had mild nystagmus. Several were seen/operated for lumbar disease. Two tested had increased 14,3,3, protein in CSF. The problem with orhtopedic referrals was transmission of the disease.