NR AWCY
AU Caroppo,P.; Orsi,L.; Atzori,C.; Bergui,M.; Imperiale,D.; Buffa,C.; Mortara,P.; Mutani,R.
TI Magnetic resonance features of an Italian case of Gerstmann-Sträussler-Scheinker disease with P102L Prnp mutation
QU International Conference - Prion 2006: Strategies, advances and trends towards protection of society - 3.10.-6.10.2006, Torino, Italy, Lingotto Conference Centre - Poster sessions DIA-11
PT Konferenz-Poster
AB Gerstmann-Sträussler-Scheinker disease (GSS) is a hereditary spongiform encephalopathy most commonly associated to a mutation at codon 102 of the prion protein gene (PRNP). The disease can present with ataxia, spastic paraparesis, extrapyramidal syndrome, dementia or a rapidly progressing neurological syndrome similar to a Creutzfeldt-Jakob disease (CJD). We report a 58 years'old patient with a 2 year history of imbalance and dyslalia and a paternal history of presenile dementia. After 9 month from the onset the neurological examination showed imbalance and slurred speech. The MRI of the brain revealed minimal enlargement of subarachnoid sulci and supratentorial ventricular system without signal alterations. Two years later, the neurological examination revealed a very important gait difficulty with imbalance, dysmetric saccades with fixation instability, diffuse decreased tone, decreased lower limb tendon reflexes, slurred and hecolalic speech and behavioral alterations with apathy and depression. The MRI of the brain showed slight diffuse atrophy and the presence of marked hyperintensity on T2-weigthed and Diffusion-weighted images in the cerebral cortex. The cerebral spinal fluid examination revealed the presence of 14.3.3. protein and an increased Tau protein level. The molecular analysis of the PRNP demonstrated the P102L mutation that confirmed the clinical suspect of Gerstmann-Sträussler-Scheinker disease. The usual imaging findings for GSS are cerebellar and cerebral atrophy and, rarely, a decreased signal changes on T2-weighted images. In one case a high signal change on T2-weighted images in the basal ganglia was reported. The MRI pattern in our case is more suggestive for the sporadic form of CJD whose hallmark is the finding of symmetric changes in the basal ganglia and cerebral cortex. Our findings point to similarities in the MRI findings between CJD and GSS with P102L PRNP mutation, especially when the latter condition evolves to a rapidly progressive neurological disease.
AD P. Caroppo, L. Orsi, M. Bergui, P. Mortara, R. Mutani: Department of Neuroscience, University of Turin, ASO S.Giovanni Battista, Turin; Italy; C. Atzori, D. Imperiale, C. Buffa: Centro DOMP A.S.L. 3, Turin, Italy. E-mail: paolacaroppo@libero.it
SP englisch
PO Italien