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

Journal article

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

DOI: 10.1001/jamaneurol.2013.165

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Abstract

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..

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University of Melbourne Researchers

Qiao-Xin Li Author Melbourne Medical School

Catriona McLean Author Florey Department of Neuroscience and Mental Health

Steven Collins Author Medicine - Royal Melbourne Hospital

Colin Masters Author Florey Department of Neuroscience and Mental Health

Vicki Lewis Author Medicine - Royal Melbourne Hospital

Related Projects (4)

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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

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Prion protein cleavage.

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Grants

Awarded by National Health and Medical Research Council

Funding Acknowledgements

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).