Unusual clinical and molecular-pathological profile of gerstmann- sträussler-scheinker disease associated with a novel PRNP mutation (V176G)

M Simpson; V Johanssen; A Boyd; G Klug; CL Masters; QX Li; R Pamphlett; C McLean; V Lewis; SJ Collins

Journal article

Unusual clinical and molecular-pathological profile of gerstmann- sträussler-scheinker disease associated with a novel PRNP mutation (V176G)

M Simpson, V Johanssen, A Boyd, G Klug, CL Masters, QX Li, R Pamphlett, C McLean, V Lewis, SJ 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 ..

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University of Melbourne Researchers

Qiao-Xin Li Author

Catriona McLean Author

Vicki Lewis Author

Steven Collins Author

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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).