A Novel Loss-of-Function GRN Mutation p.(Tyr229*) : Clinical and Neuropathological Features

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Kuuluvainen , L , Pöyhönen , M , Pasanen , P , Siitonen , M , Rummukainen , J , Tienari , P J , Paetau , A & Myllykangas , L 2017 , ' A Novel Loss-of-Function GRN Mutation p.(Tyr229*) : Clinical and Neuropathological Features ' , Journal of Alzheimer's Disease , vol. 55 , no. 3 , pp. 1167-1174 . https://doi.org/10.3233/JAD-160647

Title: A Novel Loss-of-Function GRN Mutation p.(Tyr229*) : Clinical and Neuropathological Features
Author: Kuuluvainen, Liina; Pöyhönen, Minna; Pasanen, Petra; Siitonen, Maija; Rummukainen, Jaana; Tienari, Pentti J.; Paetau, Anders; Myllykangas, Liisa
Contributor organization: Minna Pöyhönen / Principal Investigator
Medicum
Department of Medical and Clinical Genetics
Clinicum
Research Programs Unit
Research Programme for Molecular Neurology
Pentti Tienari / Principal Investigator
Neurologian yksikkö
Department of Neurosciences
Department of Pathology
HUSLAB
Liisa Tellervo Myllykangas / Principal Investigator
HUS Neurocenter
Date: 2017
Language: eng
Number of pages: 8
Belongs to series: Journal of Alzheimer's Disease
ISSN: 1387-2877
DOI: https://doi.org/10.3233/JAD-160647
URI: http://hdl.handle.net/10138/311411
Abstract: Mutations in the progranulin (GRN) gene represent about 5-10% of frontotemporal lobar degeneration (FTLD). We describe a proband with a novel GRN mutation c.687T>A, p.(Tyr229*), presenting with dyspraxia, dysgraphia, and dysphasia at the age of 60 and a very severe FTLD neuropathological phenotype with TDP43 inclusions. The nephew of the proband had signs of dementia and personality changes at the age of 60 and showed similar but milder FTLD pathology. Three other family members had had early-onset dementia. Gene expression studies showed decreased GRN gene expression in mutation carriers' blood samples. In conclusion, we describe a novel GRN, p.(Tyr229*) mutation, resulting in haploinsufficiency of GRN and a severe neuropathologic FTLD phenotype.
Subject: Frontotemporal dementia
frontotemporal lobar degeneration
mutation
progranulin (GRN)
TDP-43
FRONTOTEMPORAL LOBAR DEGENERATION
PROGRANULIN MUTATIONS
DEMENTIA
PATHOLOGY
EXPRESSION
DISEASE
GENE
FTD
3112 Neurosciences
3124 Neurology and psychiatry
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: acceptedVersion


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