TMEM106B Effect on cognition in Parkinson disease and frontotemporal dementia.
Aged
Cognition
/ physiology
Cognitive Dysfunction
/ diagnosis
Female
Follow-Up Studies
Frontotemporal Dementia
/ diagnosis
Humans
Longitudinal Studies
Male
Membrane Proteins
/ genetics
Mental Status and Dementia Tests
Middle Aged
Nerve Tissue Proteins
/ genetics
Neuropsychological Tests
Parkinson Disease
/ diagnosis
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
15
12
2018
revised:
10
04
2019
accepted:
10
04
2019
pubmed:
12
4
2019
medline:
31
3
2020
entrez:
12
4
2019
Statut:
ppublish
Résumé
Common variants near TMEM106B associate with risk of developing frontotemporal dementia (FTD). Emerging evidence suggests a role for TMEM106B in neurodegenerative processes beyond FTD. We evaluate the effect of TMEM106B genotype on cognitive decline across multiple neurogenerative diseases. We longitudinally followed 870 subjects with diagnoses of Parkinson disease (PD; n = 179), FTD (n = 179), Alzheimer disease (AD; n = 300), memory-predominant mild cognitive impairment (MCI; n = 75), or neurologically normal control subjects (NC; n = 137) at the University of Pennsylvania (UPenn). All participants had annual Mini-Mental State Examination (MMSE; median follow-up duration = 3.0 years) and were genotyped at TMEM106B index single nucleotide polymorphism rs1990622. Genotype effects on cognition were confirmed by extending analyses to additional cognitive instruments (Mattis Dementia Rating Scale-2 [DRS-2] and Montreal Cognitive Assessment [MoCA]) and to an international validation cohort (Parkinson's Progression Markers Initiative [PPMI], N = 371). The TMEM106B rs1990622 Irrespective of cognitive instrument or cohort assessed, TMEM106B acts as a genetic modifier for cognitive trajectory in PD. Our results implicate lysosomal dysfunction in the pathogenesis of cognitive decline in 2 different proteinopathies. ANN NEUROL 2019;85:801-811.
Identifiants
pubmed: 30973966
doi: 10.1002/ana.25486
pmc: PMC6953172
mid: NIHMS1064689
doi:
Substances chimiques
Membrane Proteins
0
Nerve Tissue Proteins
0
TMEM106B protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
801-811Subventions
Organisme : NINDS NIH HHS
ID : P50 NS06284
Pays : United States
Organisme : NINDS NIH HHS
ID : T32 NS091008
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS115139
Pays : United States
Organisme : NIA NIH HHS
ID : U19 AG062418
Pays : United States
Organisme : NINDS NIH HHS
ID : U01 NS097056
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS082265
Pays : United States
Organisme : NIA NIH HHS
ID : P30 AG010124
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2019 American Neurological Association.
Références
Mov Disord. 2018 Feb;33(2):208-218
pubmed: 29168899
J Psychiatr Res. 1975 Nov;12(3):189-98
pubmed: 1202204
Br J Haematol. 2005 Apr;129(2):178-88
pubmed: 15813845
Biometrics. 1982 Dec;38(4):963-74
pubmed: 7168798
Acta Neuropathol. 2014 Mar;127(3):407-18
pubmed: 24442578
Nat Genet. 2010 Mar;42(3):234-9
pubmed: 20154673
J Am Geriatr Soc. 2005 Apr;53(4):695-9
pubmed: 15817019
Mov Disord. 2008 Apr 30;23(6):837-44
pubmed: 18307261
Acta Neuropathol. 2011 Mar;121(3):373-80
pubmed: 21104415
JAMA Neurol. 2018 Mar 1;75(3):312-319
pubmed: 29309488
Cell Syst. 2017 Apr 26;4(4):404-415.e5
pubmed: 28330615
J Neurosci. 2012 Aug 15;32(33):11213-27
pubmed: 22895706
Alzheimers Dement. 2014 Jul;10(4):477-484.e1
pubmed: 23978324
Neurology. 2011 Feb 1;76(5):467-74
pubmed: 21178100
Hum Mol Genet. 2013 Feb 15;22(4):685-95
pubmed: 23136129
Mov Disord. 2016 Jan;31(1):79-85
pubmed: 26268663
Hum Mol Genet. 2016 Jul 1;25(13):2681-2697
pubmed: 27126638
J Clin Exp Neuropsychol. 1998 Aug;20(4):536-47
pubmed: 9892057
J Alzheimers Dis. 2018;61(3):1221-1232
pubmed: 29254085
Neurology. 2012 Aug 14;79(7):717-8
pubmed: 22855871
Acta Neuropathol. 2015 Jan;129(1):53-64
pubmed: 25367383
Brain. 2018 Jul 1;141(7):2181-2193
pubmed: 29878075
Am J Hum Genet. 2017 Nov 2;101(5):643-663
pubmed: 29056226
Am J Hum Genet. 2012 Jun 8;90(6):1102-7
pubmed: 22608501
Neurology. 2015 Mar 3;84(9):927-34
pubmed: 25653292
J Comp Neurol. 2013 Dec 15;521(18):4339-55
pubmed: 23881776
J Am Geriatr Soc. 1992 Sep;40(9):922-35
pubmed: 1512391
Prog Neurobiol. 2011 Dec;95(4):629-35
pubmed: 21930184
Acta Neuropathol. 2014 Sep;128(3):411-21
pubmed: 24899141