Genetics of frontotemporal dementia

DA Olszewska, R Lonergan, EM Fallon… - Current neurology and …, 2016 - Springer
Frontotemporal dementia (FTD) is the second most common cause of dementia following
Alzheimer's disease (AD). Between 20 and 50% of cases are familial. Mutations in MAPT …

[HTML][HTML] The role of VCP mutations in the Spectrum of amyotrophic lateral sclerosis—frontotemporal dementia

E Scarian, G Fiamingo, L Diamanti, I Palmieri… - Frontiers in …, 2022 - frontiersin.org
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) are two
neurological diseases which, respectively, and primarily affect motor neurons and …

Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination

T Zhang, T Feng, K Wu, J Guo, AL Nana, G Yang… - Acta …, 2023 - Springer
Heterozygous mutations in the granulin (GRN) gene, resulting in the haploinsufficiency of
the progranulin (PGRN) protein, is a leading cause of frontotemporal lobar degeneration …

[HTML][HTML] Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations

X Zhou, L Sun, O Bracko, JW Choi, Y Jia… - Nature …, 2017 - nature.com
Haploinsufficiency of progranulin (PGRN) due to mutations in the granulin (GRN) gene
causes frontotemporal lobar degeneration (FTLD), and complete loss of PGRN leads to a …

Regulation of lysosomal trafficking of progranulin by sortilin and prosaposin

H Du, X Zhou, T Feng, F Hu - Brain Communications, 2022 - academic.oup.com
Haploinsufficiency of the progranulin protein is a leading cause of frontotemporal lobar
degeneration. Accumulating evidence support a crucial role of progranulin in the lysosome …

[HTML][HTML] Lysosomal processing of progranulin

X Zhou, DH Paushter, T Feng, L Sun… - Molecular …, 2017 - Springer
Background Mutations resulting in progranulin (PGRN) haploinsufficiency cause
frontotemporal lobar degeneration with TDP-43-positive inclusions (FTLD-TDP), a …

[HTML][HTML] The genetics of monogenic frontotemporal dementia

LT Takada - Dementia & neuropsychologia, 2015 - SciELO Brasil
ABSTRACT Around 10-15% of patients diagnosed with frontotemporal dementia (FTD) have
a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the …

A multifaceted role of progranulin in regulating amyloid-beta dynamics and responses

H Du, MY Wong, T Zhang, MN Santos… - Life Science …, 2021 - life-science-alliance.org
Haploinsufficiency of progranulin (PGRN) is a leading cause of frontotemporal lobar
degeneration (FTLD). PGRN polymorphisms are associated with Alzheimer's disease …

Impact and risk factors of limbic predominant age-related TDP-43 Encephalopathy Neuropathologic Change in an Oldest-Old Cohort

SA Sajjadi, S Bukhari, KA Scambray, R Yan, C Kawas… - Neurology, 2023 - AAN Enterprises
Background and Objectives Limbic predominant age-related TAR DNA binding protein 43
(TDP-43) encephalopathy neuropathologic change (LATE-NC) is a prevalent degenerative …

Progranulin: functions and neurologic correlations

RA Townley, BF Boeve, EE Benarroch - Neurology, 2018 - AAN Enterprises
Progranulin is a highly conserved secreted protein that is expressed in multiple cell types,
both in the CNS and in peripheral tissues. Both directly and via its conversion to granulins …