Codon G131V

A.I.G.S.S. Association




This mutation was found in only one family. Clinically, it was characterized by changes in personality, dementia, apraxia, cerebellar ataxia, extrapyramidal signs and brisk tendon reflexes. The disease started in the fifth decade and lasted for 9 years. MRI demonstrated cerebral and cerebellar atrophies. The family history was negative. Numerous PrP-amyloid plaques and diffuse deposits were seen in the cerebral cortex, basal ganglia and cerebellum.

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Italian Association against the disease of GERSTMANN STRAUSSLER SCHEINKER

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