Cargando…

Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review

BACKGROUND: Progranulin (GRN) mutations in frontotemporal dementia (FTD) have been less frequently reported in China than in Western countries. OBJECTIVE: This study reports a novel GRN mutation and summarizes the genetic and clinical features of patients with GRN mutations in China. METHODS: Compre...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chu, Min, Nan, Haitian, Jiang, Deming, Liu, Li, Huang, Anqi, Wang, Yihao, Wu, Liyong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10200209/ https://www.ncbi.nlm.nih.gov/pubmed/36970912 http://dx.doi.org/10.3233/JAD-230052

Ejemplares similares

Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review
por: Chu, Min, et al.
Publicado: (2022)

Peripheral inflammation in behavioural variant frontotemporal dementia: associations with central degeneration and clinical measures
por: Chu, Min, et al.
Publicado: (2023)

A case of familial frontotemporal dementia caused by a progranulin gene mutation
por: Currens, Lauryn, et al.
Publicado: (2023)

Recent Insights into the Involvement of Progranulin in Frontotemporal Dementia
por: Sun, Li, et al.
Publicado: (2011)

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
por: Finch, NiCole, et al.
Publicado: (2009)

Preclinical Interventions in Mouse Models of Frontotemporal Dementia Due to Progranulin Mutations
por: Kashyap, Shreya N., et al.
Publicado: (2023)

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations
por: Arrant, Andrew E., et al.
Publicado: (2019)

Manic behavior and asymmetric right frontotemporal dementia from a novel progranulin mutation
por: Mendez, Mario F
Publicado: (2018)

Latozinemab, a novel progranulin-elevating therapy for frontotemporal dementia
por: Kurnellas, Michael, et al.
Publicado: (2023)

Altered metabolic connectivity within the limbic cortico-striato-thalamo-cortical circuit in presymptomatic and symptomatic behavioral variant frontotemporal dementia
por: Liu, Li, et al.
Publicado: (2023)

Pathological correlates of white matter hyperintensities in a case of progranulin mutation associated frontotemporal dementia
por: Woollacott, Ione O.C., et al.
Publicado: (2018)

Analytical and clinical validation of a blood progranulin ELISA in frontotemporal dementias
por: Meda, Francisco, et al.
Publicado: (2023)

FTD-PSP is an Unusual Clinical Phenotype in A Frontotemporal Dementia Patient with A Novel Progranulin Mutation
por: Deng, Bin, et al.
Publicado: (2021)

The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients
por: Liu, Li, et al.
Publicado: (2021)

Progranulin in frontotemporal lobar degeneration and neuroinflammation
por: Ahmed, Zeshan, et al.
Publicado: (2007)

A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia
por: Lashley, Tammaryn, et al.
Publicado: (2014)

Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations
por: Holler, Christopher J., et al.
Publicado: (2017)

Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation
por: Papegaey, Anthony, et al.
Publicado: (2016)

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study
por: Sudre, Carole H., et al.
Publicado: (2019)

Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia
por: Natarajan, Karthick, et al.
Publicado: (2021)

Neuropsychological features of progranulin-associated frontotemporal dementia: a nested case-control study
por: Lima, Marisa, et al.
Publicado: (2020)

Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay
por: Nguyen, Andrew D., et al.
Publicado: (2018)

Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations
por: Zhou, Xiaolai, et al.
Publicado: (2017)

Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations
por: Sakae, Nobutaka, et al.
Publicado: (2019)

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
por: Whitwell, Jennifer L., et al.
Publicado: (2012)

Progranulin axis and recent developments in frontotemporal lobar degeneration
por: Nicholson, Alexandra M, et al.
Publicado: (2012)

Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations
por: Huang, Meixiang, et al.
Publicado: (2020)

Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations()
por: Rohrer, Jonathan D., et al.
Publicado: (2010)

Involvement of striatal motoric subregions in familial frontotemporal dementia with parkinsonism harboring the C9orf72 repeat expansions
por: Liu, Li, et al.
Publicado: (2022)

Loss of function mutations in the progranulin gene are related to pro-inflammatory cytokine dysregulation in frontotemporal lobar degeneration patients
por: Bossù, Paola, et al.
Publicado: (2011)

Plasma levels of progranulin and interleukin-6 in frontotemporal lobar degeneration
por: Gibbons, Linda, et al.
Publicado: (2015)

Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism
por: Chen, Zhongyun, et al.
Publicado: (2022)

Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia—clinical features and neuroimaging correlates
por: Ghirelli, Alma, et al.
Publicado: (2023)

Restoration of Progranulin Expression Rescues Cortical Neuron Generation in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia
por: Raitano, Susanna, et al.
Publicado: (2014)

Neuropathological and behavioral characterization of aged Grn R493X progranulin-deficient frontotemporal dementia knockin mice
por: Frew, Jonathan, et al.
Publicado: (2021)

Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations
por: Kocerha, Jannet, et al.
Publicado: (2011)

MicroRNA-29b Regulates the Expression Level of Human Progranulin, a Secreted Glycoprotein Implicated in Frontotemporal Dementia
por: Jiao, Jian, et al.
Publicado: (2010)

Progranulin, a Glycoprotein Deficient in Frontotemporal Dementia, Is a Novel Substrate of Several Protein Disulfide Isomerase Family Proteins
por: Almeida, Sandra, et al.
Publicado: (2011)

Reduced miR-659-3p Levels Correlate with Progranulin Increase in Hypoxic Conditions: Implications for Frontotemporal Dementia
por: Piscopo, Paola, et al.
Publicado: (2016)

Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia
por: Yang, Xunzhe, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_92ij7mk6tg6mbe9fnapi6f5gul