Novel prion protein gene mutation presenting with subacute PSP-like syndrome

D. B. Rowe; V. Lewis; M. Needham; M. Rodriguez; A. Boyd; C. McLean; H. Roberts; C. L. Masters; S. J. Collins

doi:10.1212/01.wnl.0000256819.61531.98

Novel prion protein gene mutation presenting with subacute PSP-like syndrome

D. B. Rowe, V. Lewis, M. Needham, M. Rodriguez, A. Boyd, C. McLean, H. Roberts, C. L. Masters, S. J. Collins

Research output: Contribution to journal › Article › Other › peer-review

37 Citations (Scopus)

Abstract

A 62-year-old Indonesian woman presenting with a progressive supranuclear palsy-like syndrome was confirmed post mortem as dying from a spongiform encephalopathy. Despite an illness duration of only 4 months, brain MRI, EEG, and CSF analysis for 14-3-3 proteins all failed to disclose changes typical of Creutzfeldt-Jakob disease. Neuropathologic examination revealed multicentric, prion protein-positive, amyloid plaques as typically seen in Gerstmann-Sträussler-Scheinker syndrome. Prion protein gene analysis revealed a previously unreported A133V mutation.

Original language	English
Pages (from-to)	868-870
Number of pages	3
Journal	Neurology
Volume	68
Issue number	11
DOIs	https://doi.org/10.1212/01.wnl.0000256819.61531.98
Publication status	Published - Mar 2007
Externally published	Yes

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title = "Novel prion protein gene mutation presenting with subacute PSP-like syndrome",

abstract = "A 62-year-old Indonesian woman presenting with a progressive supranuclear palsy-like syndrome was confirmed post mortem as dying from a spongiform encephalopathy. Despite an illness duration of only 4 months, brain MRI, EEG, and CSF analysis for 14-3-3 proteins all failed to disclose changes typical of Creutzfeldt-Jakob disease. Neuropathologic examination revealed multicentric, prion protein-positive, amyloid plaques as typically seen in Gerstmann-Str{\"a}ussler-Scheinker syndrome. Prion protein gene analysis revealed a previously unreported A133V mutation.",

author = "Rowe, {D. B.} and V. Lewis and M. Needham and M. Rodriguez and A. Boyd and C. McLean and H. Roberts and Masters, {C. L.} and Collins, {S. J.}",

note = "Funding Information: The Australian National Creutzfeldt–Jakob Disease Registry is funded by the Commonwealth Department of Health and Ageing. S.J.C. receives an NH&MRC Practitioner Fellowship (no. 400182), and both S.J.C. and C.L.M. are recipients of an NH&MRC Program Grant (no. 400202). ",

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doi = "10.1212/01.wnl.0000256819.61531.98",

language = "English",

volume = "68",

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AU - Rowe, D. B.

AU - Lewis, V.

AU - Needham, M.

AU - Rodriguez, M.

AU - Boyd, A.

AU - McLean, C.

AU - Roberts, H.

AU - Masters, C. L.

AU - Collins, S. J.

N1 - Funding Information: The Australian National Creutzfeldt–Jakob Disease Registry is funded by the Commonwealth Department of Health and Ageing. S.J.C. receives an NH&MRC Practitioner Fellowship (no. 400182), and both S.J.C. and C.L.M. are recipients of an NH&MRC Program Grant (no. 400202).

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AB - A 62-year-old Indonesian woman presenting with a progressive supranuclear palsy-like syndrome was confirmed post mortem as dying from a spongiform encephalopathy. Despite an illness duration of only 4 months, brain MRI, EEG, and CSF analysis for 14-3-3 proteins all failed to disclose changes typical of Creutzfeldt-Jakob disease. Neuropathologic examination revealed multicentric, prion protein-positive, amyloid plaques as typically seen in Gerstmann-Sträussler-Scheinker syndrome. Prion protein gene analysis revealed a previously unreported A133V mutation.

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Novel prion protein gene mutation presenting with subacute PSP-like syndrome

Abstract

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