has material basis in germline mutation in PRNP prion disease Gerstmann-Straussler-Scheinker syndrome https://github.com/monarch-initiative/mondo/issues/6671 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/gerstmann_straussler_disease cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system ICD10CM:A81.82 Gerstmann-Straussler-Scheinker disease A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia. icd11.foundation:406818835 MESH:C535800 SCTID:67155006 DOID:4249 amyloidosis cerebral with spongiform encephalopathy MedDRA:10072075 Orphanet:356 Gerstmann-Straussler disease NANDO:1200190 UMLS:C0017495 Gerstmann Straussler Scheinker syndrome GSD Editor note: MESH considers as two diseases NCIT:C84727 subacute spongiform encephalopathy, Gerstmann-Straussler type GARD:0007690 encephalopathy subacute spongiform Gerstmann-Straussler type prion dementia MONDO:0007656 ICD9:046.71 OMIM:137440 MEDGEN:4886 hereditary neurological disease