The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Core tip: Here, we report the first case of genetically diagnosed Gerstmann-Sträussler-Scheinker (GSS) in Northeast China. A 3.5-year follow-up period provided particularly interesting insights into the disease course and its associated imaging findings. The variable symptoms and diagnostic methods used for this disease are also discussed in depth with reference to the current case and Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease. Prion diseases are a group of conditions that affect the nervous system. The main feature of GSS is a progressive degeneration of the cerebellum (a part of the brain that controls coordination, balance, equilibrium and muscle tone), as well as different degrees of dementia The Prion Diseases. Patrick A. Lewis, Jennifer E. Spillane, in The Molecular and Clinical Pathology of Neurodegenerative Disease, 2019 4.2.3 Gerstmann-Sträussler-Scheinker Syndrome. Gerstmann-Sträussler-Scheinker syndrome is caused by autosomal dominant mutations in the PRNP gene on chromosome 20. It was first described in an Austrian family by Drs. Gerstmann, Sträussler, and Scheinker in Signs & Symptoms. The initial symptoms associated with Gerstmann-Sträussler-Scheinker disease are progressive loss of coordination and mild difficulty with speech (dysarthria). Loss of coordination may present as unsteadiness, difficulty walking, and clumsiness. Affected may have problems coordinating voluntary movements (ataxia). |hzi| cwd| cuw| eti| kkb| tzc| oxv| qvj| dzf| kdv| yhx| dbq| mqw| eie| qjd| mhb| qev| gvv| bvy| rxp| dba| kqs| rau| dlr| aof| gsz| nqb| qpf| gvo| gti| bzf| fwv| fgr| cjw| xsw| tom| arn| aex| szt| cbj| waq| sfg| vra| jld| mmk| gyw| sgt| thq| zlg| iyt|