Codon Q217R

A.I.G.S.S. Association

Italiano

Inglese

CODON Q217R

This mutation was described by Karen Hsiao et al in two patients from a Swedish-American family. The disease manifests itself as psychotic manic-depression disturbances (responding to antidepressant treatment, lithium and neuroleptics), cognitive alterations leading to dementia, ataxia and parkinsonian features. The neuropathological picture is similar to that of IK; numerous PrP plaques and NFT composed of PHF (paired helical filaments) are visible. PrPd in plaques coexists with Aβ peptide.

© 2023 A.I.G.S.S.
Italian Association against the disease of GERSTMANN STRAUSSLER SCHEINKER

Headquarter: via Alfieri, 2 - 20813 Bovisio Masciago (MB) ITALY
info@aigss-it.org

Cookies Settings | Privacy Policy