The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]
, 2013 Frontotemporal lobar degeneration (FTLD) consists of a group of neurodegenerative diseases characterized by behavioural and executive impairment, language disorders and motor dysfunction.
Calo, Laura +14 more
core +4 more sources
Systemic Sarcoidosis Mimicking a Behavioural Variant of Frontotemporal Dementia
Case Reports in Neurological Medicine, 2015 Among rare neurological manifestations, a progressive dementia may exceptionally be the revealing clinical feature of a sarcoidosis. Diagnosis may then be difficult, especially when systemic signs are missing or latent, with a risk of therapeutic delay ...
Anne De Maindreville +2 more
doaj +1 more source
Early Cognitive/Social Deficits and Late Motor Phenotype in Conditional Wild-Type TDP-43 Transgenic Mice [PDF]
, 2016 Frontotemporal Dementia (FTD) and amyotrophic lateral sclerosis (ALS) are two neurodegenerative diseases associated to mislocalization and aggregation of TAR DNA-binding protein 43 (TDP-43).
Alfieri, Julio Armando +2 more
core +2 more sources
The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells
FEBS Open Bio, EarlyView.We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel +8 more
wiley +1 more source
The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD
Cell ReportsSummary: GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown.
Dilara O. Halim +9 more
doaj +1 more source
NeuroImage: Clinical, 2017 Objective: This present study aims to address the gap in the literature regarding the severity and underlying neural correlates of psychotic symptoms in frontotemporal dementia with and without the C9orf72 gene expansion. Methods: Fifty-six patients with
Emma M Devenney +7 more
doaj +1 more source
Altered Time Awareness in Dementia
Frontiers in Neurology, 2020 Our awareness of time, specifically of longer intervals spanning hours, days, months, and years, is critical for ensuring our sense of self-continuity.
Maï-Carmen Requena-Komuro +12 more
doaj +1 more source
Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. [PDF]
, 2017 Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two apparently distinct neurodegenerative diseases, the former characterized by selective loss of motor neurons in the brain and spinal cord and the latter characterized by ...
Pasinelli, Piera +3 more
core +2 more sources
Clinical Characteristics of Parkinsonism in HTLV‐1‐Associated Myelopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Human T‐lymphotropic virus type 1 (HTLV‐1)‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the classic neurological manifestation of HTLV‐1 infection; however, this virus has also been associated with other neurological disorders. Concurrent parkinsonism is relatively rare and presents diagnostic challenges.
Mika Dozono +8 more
wiley +1 more source
Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
Human Genome Variation, 2023 The N-terminus of the PRNP gene normally contains a 5-octapeptide repeat (R1-R2-R2-R3-R4), and insertions at this locus can cause hereditary prion diseases.
Shinsuke Hamada +6 more
doaj +1 more source