Pallidopontonigral degeneration(PPND)

MedGen UID:: 105456
•Concept ID:: C0520716
•: Disease or Syndrome

Synonym:	Pallidopontonigral Degeneration
SNOMED CT:	Pallidopontonigral degeneration (42369001)

OMIM®:	600274

Recent clinical studies

Etiology

In vivo detection of neuropathologic changes in presymptomatic MAPT mutation carriers: a PET and MRI study.

Miyoshi M, Shinotoh H, Wszolek ZK, Strongosky AJ, Shimada H, Arakawa R, Higuchi M, Ikoma Y, Yasuno F, Fukushi K, Irie T, Ito H, Suhara T
Parkinsonism Relat Disord 2010 Jul;16(6):404-8. Epub 2010 May 10 doi: 10.1016/j.parkreldis.2010.04.004. PMID: 20452812

Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation).

Arvanitakis Z, Witte RJ, Dickson DW, Tsuboi Y, Uitti RJ, Slowinski J, Hutton ML, Lin SC, Boeve BF, Cheshire WP, Pooley RA, Liss JM, Caviness JN, Strongosky AJ, Wszolek ZK
Parkinsonism Relat Disord 2007 May;13(4):230-9. Epub 2006 Dec 29 doi: 10.1016/j.parkreldis.2006.10.007. PMID: 17196872

Absence of rapid eye movement sleep behavior disorder in 11 members of the pallidopontonigral degeneration kindred.

Boeve BF, Lin SC, Strongosky A, Dickson DW, Wszolek ZK
Arch Neurol 2006 Feb;63(2):268-72. doi: 10.1001/archneur.63.2.268. PMID: 16476816

Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17.

Cheshire WP, Tsuboi Y, Wszolek ZK
Auton Neurosci 2002 Nov 29;102(1-2):71-7. doi: 10.1016/s1566-0702(02)00205-9. PMID: 12492138

Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.

Arima K, Kowalska A, Hasegawa M, Mukoyama M, Watanabe R, Kawai M, Takahashi K, Iwatsubo T, Tabira T, Sunohara N
Neurology 2000 May 9;54(9):1787-95. doi: 10.1212/wnl.54.9.1787. PMID: 10802785

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Diagnosis

Pallidopontonigral degeneration: a deceptive familial tauopathy.

O'Dowd S, Murray B, Roberts K, Cummins G, Magennis B, Lynch T
Mov Disord 2012 Jun;27(7):817-9. doi: 10.1002/mds.24052. PMID: 22729984

Distinctive MRI findings in pallidopontonigral degeneration (PPND).

Frank AR, Wszolek ZK, Jack CR Jr, Boeve BF
Neurology 2007 Feb 20;68(8):620-1. doi: 10.1212/01.wnl.0000254614.39759.3d. PMID: 17310038

Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.

Arima K, Kowalska A, Hasegawa M, Mukoyama M, Watanabe R, Kawai M, Takahashi K, Iwatsubo T, Tabira T, Sunohara N
Neurology 2000 May 9;54(9):1787-95. doi: 10.1212/wnl.54.9.1787. PMID: 10802785

See all (3)