Results 131 to 140 of about 241,511 (306)

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

Thyroid Auto-Antibodies and Chronic Neurodegenerative Disease [PDF]

, 1992
C James, David Phillips, Julia M. Hum, Desmond O’Neill, Gordon Wilcock, S. Sturman, J. deBelleroche, I. McQueen, Martin G. Scanlon   +8 more
openalex   +1 more source

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn, Rhiana Schafer, Ashlin R. K. Roy, Andrzej Sokolowski, Noah G. Cryns, Dana Leichter, Argentina Lario Lago, Eliana Marisa Ramos, Yann Cobigo, Salvatore Spina, Lea T. Grinberg, Daniel H. Geschwind, Maria L. Gorno‐Tempini, Joel H. Kramer, Howard J. Rosen, Bruce L. Miller, William W. Seeley, David C. Perry   +17 more
wiley   +1 more source

A network aggregation model for the dynamics and treatment of neurodegenerative diseases at the brain scale [PDF]

arXiv
Neurodegenerative diseases are associated with the assembly of specific proteins into oligomers and fibrillar aggregates. At the brain scale, these protein assemblies can diffuse through the brain and seed other regions, creating an autocatalytic protein progression.
arxiv  

Sphingolipids—Their Metabolic Pathways and the Pathobiochemistry of Neurodegenerative Diseases [PDF]

, 1999
Thomas Kolter, Konrad Sandhoff
openalex   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease

Scientific Reports
Cognitive and visual impairment are common in Huntington’s Disease (HD) and may precede motor diagnosis. We investigate the early presence of visual cognitive deficits in 181 participants, including HD carriers (40 pre-manifest, 30 early manifest, 27 ...
Rocio Del Pino, Maria Ángeles Acera, Amaia Ortiz de Echevarrría, Beatriz Tijero, Marta Ruiz-Lopez, Johanne Somme, Javier Ruiz-Martínez, Andrea Gabilondo, Ioana M. Croitoru, Lara Pardina, Naia Ayo-Mentxakatorre, Ane Murueta-Goyena, Iñigo Gabilondo, Rosario Sanchez-Pernaute, Tamara Fernández-Valle, Juan Carlos Gómez Esteban   +15 more
doaj   +1 more source

Antibodies inhibit transmission and aggregation of C9orf72 poly‐GA dipeptide repeat proteins

EMBO Molecular Medicine, 2017
Cell‐to‐cell transmission of protein aggregates is an emerging theme in neurodegenerative disease. Here, we analyze the dipeptide repeat (DPR) proteins that form neuronal inclusions in patients with hexanucleotide repeat expansion C9orf72, the most ...
Qihui Zhou, Carina Lehmer, Meike Michaelsen, Kohji Mori, Dominik Alterauge, Dirk Baumjohann, Martin H Schludi, Johanna Greiling, Daniel Farny, Andrew Flatley, Regina Feederle, Stephanie May, Franziska Schreiber, Thomas Arzberger, Christoph Kuhm, Thomas Klopstock, Andreas Hermann, Christian Haass, Dieter Edbauer   +18 more
doaj   +1 more source

Aberrant RNA Processing in a Neurodegenerative Disease: the Cause for Absent EAAT2, a Glutamate Transporter, in Amyotrophic Lateral Sclerosis [PDF]

, 1998
Chien-Liang Lin, Lynn A. Bristol, Jin Li, Margaret Dykes‐Hoberg, Thomas O. Crawford, Lora Clawson, Jeffrey D. Rothstein   +6 more
openalex   +1 more source

Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley   +1 more source