Parkinsonism, movement disorders and genetics in frontotemporal dementia

JF Baizabal-Carvallo, J Jankovic - Nature Reviews Neurology, 2016 - nature.com
Frontotemporal dementia (FTD) refers to a group of clinically and genetically heterogeneous
neurodegenerative disorders that are a common cause of adult-onset behavioural and …

Parkin beyond Parkinson's Disease—A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies

K Gaweda-Walerych, EJ Sitek, E Narożańska, E Buratti - Cells, 2021 - mdpi.com
Parkin and PINK1 are key regulators of mitophagy, an autophagic pathway for selective
elimination of dysfunctional mitochondria. To this date, parkin depletion has been …

Progranulin loss results in sex-dependent dysregulation of the peripheral and central immune system

MC Houser, O Uriarte Huarte, RL Wallings… - Frontiers in …, 2022 - frontiersin.org
Introduction Progranulin (PGRN) is a secreted glycoprotein, the expression of which is
linked to several neurodegenerative diseases. Although its specific function is still unclear …

Progranulin deficiency leads to reduced glucocerebrosidase activity

X Zhou, DH Paushter, MD Pagan, D Kim… - PLoS …, 2019 - journals.plos.org
Mutation in the GRN gene, encoding the progranulin (PGRN) protein, shows a dose-
dependent disease correlation, wherein haploinsufficiency results in frontotemporal lobar …

Ischemic stroke and concomitant gastrointestinal complications-a fatal combination for patient recovery

AA Tuz, A Hasenberg, DM Hermann, M Gunzer… - Frontiers in …, 2022 - frontiersin.org
Stroke is primarily a neurodegenerative disease but can also severely impact the functions
of other vital organs and deteriorate disease outcomes. A malfunction of the gastrointestinal …

[HTML][HTML] Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study

E Premi, M Pengo, I Mattioli, V Cantoni, J Dukart… - Neurobiology of …, 2023 - Elsevier
Abstract Background Neurotransmitters deficits in Frontotemporal Dementia (FTD) are still
poorly understood. Better knowledge of neurotransmitters impairment, especially in …

Parkinsonism in frontotemporal dementias

JB Rowe - International Review of Neurobiology, 2019 - Elsevier
Frontotemporal dementia is a clinically and pathologically heterogeneous group of
neurodegenerative disorders, with progressive impairment of behavior and language. They …

Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations

F Carneiro, D Saracino, V Huin, F Clot… - Parkinsonism & Related …, 2020 - Elsevier
Introduction A phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease
(IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic causes …

Molecular imaging biomarkers in familial frontotemporal lobar degeneration: Progress and prospects

R Wang, H Gao, H Xie, Z Jia, Q Chen - Frontiers in Neurology, 2022 - frontiersin.org
Familial frontotemporal lobar degeneration (FTLD) is a pathologically heterogeneous group
of neurodegenerative diseases with diverse genotypes and clinical phenotypes. Three …

Reduced plasma progranulin levels are associated with the severity of Parkinson's disease

YN Yao, MD Wang, XC Tang, B Wu, HM Sun - Neuroscience letters, 2020 - Elsevier
Blood levels of progranulin (PGRN) are suggested to be decreased in patients with
Parkinson's disease (PD). However, the association between blood levels of progranulin …