title: Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.
abstract: Gerstmann-Sträussler-Scheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and ataxia, later associated with memory problems, pyramidal signs, anosognosia and very late myoclonus, spasticity, and severe dysexecutive impairment. Magnetic resonance showed caudate, mesio-frontal, and insular hyper-intensities, electroencephalography revealed generalized triphasic periodic complexes. A pathogenic P102L mutation in the prion gene was detected. Our case differed from classical Gerstmann-Sträussler-Scheinker syndrome by rapid progression, severe dementia, abnormal electroencephalography and magnetic resonance findings, which were highly suggestive of familial Creutzfeldt-Jakob disease.
authors.affiliation: Department of Neurology, Thomayer Teaching Hospital and Institute for Postgraduate Education in Medicine, Prague, Czech Republic. robert.rusina@ftn.cz
authors.forename: Robert
authors.initials: R
authors.lastname: Rusina
authors.forename: Jindřich
authors.initials: J
authors.lastname: Fiala
authors.forename: Karel
authors.initials: K
authors.lastname: Holada
authors.forename: Milada
authors.initials: M
authors.lastname: Matějčková
authors.forename: Jana
authors.initials: J
authors.lastname: Nováková
authors.forename: Radek
authors.initials: R
authors.lastname: Ampapa
authors.forename: František
authors.initials: F
authors.lastname: Koukolík
authors.forename: Radoslav
authors.initials: R
authors.lastname: Matěj
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000523:psychology; D038524:Diffusion Magnetic Resonance Imaging; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics* / Q000523:psychology; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008568:Memory / Q000502:physiology; D009154:Mutation / Q000235:genetics / Q000502:physiology*; D009483:Neuropsychological Tests; D010554:Personality Disorders / Q000209:etiology / Q000523:psychology; D011328:Prions / Q000235:genetics; D011597:Psychomotor Performance / Q000502:physiology; D020521:Stroke / Q000150:complications
chemical_list: D011328:Prions