Codons N202V e P212M

A.I.G.S.S. Association



CODONS N202V and P212M

These mutations are also linked to GSS. The duration of illness of a case with 202Asn was 6 years. The disease started in the eighth decade of life and manifested itself as dementia with cerebellar signs. PrP plaques were seen in both the brain and cerebellum; spongiform change was not present. Numerous NFT were visible in the cerebral cortex. A second GSS family was also identified. The patient with mutation 212Pro became ill in year 60 and the disease lasted for 8 years. Phenotypically, this case demonstrated slurred speech, cerebellar ataxia leading to total incapacitation but not dementia. PrP plaques were visible in both the brain and cerebellum but their density was the lowest among all the GSS families.

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