Results 111 to 120 of about 9,462 (208)

Late‐Onset Tay–Sachs Disease With SMALED‐Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background Late‐onset Tay–Sachs disease (LOTS) is a rare lysosomal disorder that contrasts with the classical infantile form by presenting with milder and heterogeneous neurological manifestations, including lower motor neuron phenotypes.
Rodrigo Siqueira Soares Frezatti, Trajano Aguiar Pires Gonçalves, Manoella Guerra de Albuquerque Bueno, André Clériston José dos Santos, Lindsay A. Wilson, Natalia Dominik, Michael G. Hanna, Jasper Morrow, Alex M. Rossor, Mary M. Reilly, Pedro José Tomaselli, Wilson Marques Junior   +11 more
wiley   +1 more source

Autosomal Dominant Optic Atrophy [PDF]

, 2020
openaire   +1 more source

The Flail Limb Syndrome

Muscle &Nerve, Volume 74, Issue 2, Page 281-292, August 2026.
ABSTRACT The flail limb syndrome is primarily a lower motor neuron disorder that initially affects proximal arm muscles (flail arm syndrome—FAS) or distal leg muscles (flail leg syndrome—FLS). Both were recognized early on (1886 for FAS and 1918 for FLS) as somewhat distinct from classic amyotrophic lateral sclerosis (ALS).
Mark B. Bromberg
wiley   +1 more source

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy

Clinical Genetics, Volume 110, Issue 2, Page 165-171, August 2026.
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk, Aleš Maver, Martina Jarc Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar Habjan, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin Jerman, Rok Romih, Marko Hawlina, Borut Peterlin   +13 more
wiley   +1 more source

Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants

Clinical Genetics, Volume 110, Issue 2, Page 203-209, August 2026.
We identified a novel pathogenic AVP variant in two Danish families with autosomal dominant inheritance of symptoms of AVP deficiency. In addition, we compiled a catalogue of additionally 109 AVP variants that cause AVP deficiency and demonstrated the advantage of combining expert‐assisted curation, literature search, and online repositories to ensure ...
Jennifa Joseph, Esben Søndergaard, Sine Knorr, Jane Hagelskjær Knudsen, Søren Rittig, Jane Hvarregaard Christensen   +5 more
wiley   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, Volume 68, Issue 8, Page 1063-1071, August 2026.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1518-1523, July 2026.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Safety considerations of gene‐based therapies for Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Gene‐based therapies show increasing promise for the treatment of neurologic disease. In 2016, nusinersen, an RNA‐based therapy, was approved for children with spinal muscular atrophy (SMA). Over 200 clinical trials have utilized gene therapy approaches for a host of neurodegenerative and neuromuscular disorders, including Alzheimer's disease (
Elizabeth A. Bevins, Gabriel C. Léger, Michelle A. Herman, John M. Ringman, Subhojit Roy, Matthew Shtrahman, Judy Pa, Howard H. Feldman   +7 more
wiley   +1 more source

Elimination of tau tangles and soluble aggregates with the small molecule ACI‐16664 prevents neurodegeneration in vivo

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract INTRODUCTION Pathological tau aggregates are key therapeutic targets in Alzheimer's disease (AD), but current approaches face limitations including poor intracellular penetration, lack of selectivity for aggregated over physiological tau, or reliance on invasive administration.
Nicolas Preitner, Véronique Dehlinger, Patrick Rodriguez, Kerstin Fabbri, Yvan Varisco, Matteo Pigni, Alessandra Lovison, Lucas Münzenmaier, Kasia Piorkowska, Aline Fuchs, Nadine Ait‐Bouziad, Nicolas Fournier, Sandra Jepaul, Jérôme Molette, Emanuele Gabellieri, Vincent Darmency, Sonia Poli, Andrea Pfeifer, Marie Kosco‐Vilbois, Francesca Capotosti   +19 more
wiley   +1 more source

Changes in body composition in genetic C9orf72 carriers: The role of the hypothalamus and thalamus

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract BACKGROUND Patients with sporadic frontotemporal dementia (FTD) display changes in metabolism and body composition. No studies have examined body composition changes in pre‐symptomatic C9orf72 mutation carriers METHODS Asymptomatic C9orf72 expansion carriers between 2017 and 2022 (n = 28 non‐carriers, 16 expansion‐positive), underwent dual ...
Rebekah M. Ahmed, Nga Yan Tse, Martina Bocchetta, Carol Dobson‐Stone, John B. Kwok, John R. Hodges, Muireann Irish, Jonathan R. Rohrer, Olivier Piguet, Glenda Halliday   +9 more
wiley   +1 more source