Results 61 to 70 of about 14,543 (225)

Problematic Internet Use in Frontotemporal Dementia: A Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The present study investigated problematic internet use (PIU) among 61 patients with frontotemporal dementia (FTD) compared to a cohort of 354 patients with mild cognitive impairment (MCI) and Alzheimer's dementia. PIU was identified in 22.9% of FTD patients compared to only 0.8% of AD patients (p < 0.001). Behaviors included compulsive social
Daniele Urso, Giuseppe Volpe, Agnese Valguarnera, Davide Vilella, Alessandra Vitulli, Valentina Gnoni, Alessia Giugno, Eleonora Rollo, Mark D. Griffiths, Giancarlo Logroscino   +9 more
wiley   +1 more source

Evaluation of Digital Technologies for Home‐Based Assessment in People With Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller, Vanessa Vallejo, Mónica Povedano Panadés, Orla Hardiman, Véronique Danel‐Brunaud, Senda Ajroud‐Driss, Philippe Couratier, Jeremy Shefner, Anna Gokey, Mike DiCesare, Erin Lennox, Jens Praestgaard, Lucie Brujin, Peggy Allred, Ram Miller   +14 more
wiley   +1 more source

C9orf72 repeat expansions are a rare genetic cause of parkinsonism.: C9ORF72 repeat expansion in parkinsonism [PDF]

, 2013
International audienceThe recently identified C9orf72 gene accounts for a large proportion of amyotrophic lateral sclerosis and frontotemporal lobar degenerations. As several forms of these disorders are associated with parkinsonism, we hypothesized that
Lesage, Suzanne, Rochefort, Daniel, Pasquier, Florence, Rouleau, Guy, A., Dion, Patrick,, Condroyer, Christel, Brice, Alexis, Broussolle, Emmanuel, Dürr, Alexandra, Gabelle, Audrey, Dion, Patrick, A., Le Ber, Isabelle, Thobois, Stéphane, Mondon, Karl, Rouleau, Guy,   +14 more
core   +1 more source

Identification of selective and non-selective C9ORF72 targeting in vivo active siRNAs

Molecular Therapy: Nucleic Acids
A hexanucleotide (G4C2) repeat expansion (HRE) within intron one of C9ORF72 is the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
James W. Gilbert, Zachary Kennedy, Bruno M.D.C. Godinho, Ashley Summers, Alexandra Weiss, Dimas Echeverria, Brianna Bramato, Nicholas McHugh, David Cooper, Ken Yamada, Matthew Hassler, Hélène Tran, Fen Biao Gao, Robert H. Brown, Jr., Anastasia Khvorova   +14 more
doaj   +1 more source

Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort.

PLoS ONE, 2018
BACKGROUND:The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in several European populations. The objective of this study was to determine the
Shima Mehrabian, Håkan Thonberg, Margarita Raycheva, Lena Lilius, Katya Stoyanova, Charlotte Forsell, Lena Cavallin, Desislava Nesheva, Eric Westman, Draga Toncheva, Latchezar Traykov, Bengt Winblad, Caroline Graff   +12 more
doaj   +1 more source

Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD

Acta Neuropathologica Communications, 2021
The most common genetic cause of familial and sporadic amyotrophic lateral sclerosis (ALS) is a GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene.
Alyssa N. Coyne, Jeffrey D. Rothstein
doaj   +1 more source

C9orf72-ALS mutation drives basal mitophagy impairments in iNeurons. [PDF]

Front Cell Neurosci
Introduction: ALS is a neurodegenerative disorder characterized by progressive upper and lower motor neuron loss. A GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene is the most common mutation found in populations of European descent ...
Lee JAK, Moutin C, Granger S, Roome K, Shaw A, Allen SP, Ferraiuolo L, Shaw PJ, Mortiboys H.   +8 more
europepmc   +3 more sources

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor [PDF]

PeerJ, 2018
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two late onset neurodegenerative diseases, have been shown to share overlapping cellular pathologies and genetic origins. Studies suggest that a hexanucleotide repeat expansion in the
Shalini Iyer, Vasanta Subramanian, K. Ravi Acharya   +2 more
doaj   +2 more sources

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source