Unusual Clinical and Molecular-Pathological Profile of Gerstmann-Straussler-Scheinker Disease Associated With a Novel PRNP Mutation (V176G)
Marion Simpson, Vanessa Johanssen, Alison Boyd, Genevieve Klug, Colin L Masters, Qiao-Xin Li, Roger Pamphlett, Catriona McLean, Victoria Lewis, Steven J Collins
JAMA NEUROLOGY | AMER MEDICAL ASSOC | Published : 2013
IMPORTANCE: Here we describe the unusual clinical and molecular-neuropathological profile of a case of Gerstmann-Sträussler-Scheinker disease associated with a novel prion protein (PRNP) gene mutation. OBSERVATIONS: This case report from the Australian National Creutzfeldt-Jakob Disease Registry concerns a 61-year-old British-born woman with no history of neurodegenerative disorder in first-degree relatives. Rapidly progressive dementia, altered behavior, and cerebellar ataxia dominated the clinical picture in the period immediately following minor elective surgery, with death 1 month later in an akinetic-mute state. Brain histopathological examination revealed neuronal loss, scant foci of s..View full abstract
Related Projects (4)
DETERMINING NORMAL PRION PROTEIN FUNCTION, EMPHASISING THE ROLE PLAYED BY PROTEIN CLEAVAGE, AND ALSO DEFINING THE RELATIONSHIP BETWEEN SURVEILLANCE INTENSITY AND ANNUAL SPORADIC CJD INCIDENCE
As a neurologist undertaking research into prion diseases over an extended period, I have been able to lead and participate in many projects..
Awarded by National Health and Medical Research Council
The Australian Creutzfeldt-Jakob Disease Registry is funded by the Commonwealth Department of Health and Ageing. Dr Lewis receives support from a National Health and Medical Research Council C. J. Martin fellowship (567123). Drs Masters and Collins receive support from a National Health and Medical Research Council program grant (628946). Dr Collins also receives support from a National Health and Medical Research Council practitioner fellowship (APP1005816).