Results 71 to 80 of about 9,985 (202)

Absence of axoglial paranodal junctions in a child with CNTNAP1 mutations, hypomyelination, and arthrogryposis

, 2018
Leukodystrophies and genetic leukoencephalopathies are a heterogeneous group of heritable disorders that affect the glial-axonal unit. As more patients with unsolved leukodystrophies and genetic leukoencephalopathies undergo next generation sequencing ...
Julian Curiel, Moore, Steven A, Jennifer Murphy, Evans, Sarah H, Bloom, Miriam, Whitehead, Matthew T, Matthew T. Whitehead, Adeline Vanderver, Sarah H. Evans, Steven A. Moore, Guy Helman, Moore, Steven A., Amy Pizzino, Cas Simons, Ryan J. Taft, Vanderver, Adeline, Taft, Ryan J., Alexander Conant, Miriam Bloom, Evans, Sarah H., Curiel, Julian, Whitehead, Matthew T., Pizzino, Amy, Sabetrasekh, Parisa, Helman, Guy, Simons, Cas, Parisa Sabetrasekh, Taft, Ryan J, Conant, Alexander, Murphy, Jennifer   +29 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

A quantitative study of white matter hypomyelination and oligodendroglial maturation in focal cortical dysplasia type II

, 2013
Purpose A diagnostic feature of focal cortical dysplasia (FCD) type II on magnetic resonance imaging (MRI) is increased subcortical white matter (WM) signal on T2 sequences corresponding to hypomyelination, the cause of which is unknown.
Martinian, L., Liu, J.Y.W., Jacques, T.S., Shepherd, C., Goc, J., Sisodiya, S.M., Liu, J., Thom, M.   +7 more
core   +1 more source

A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia

Molecular Genetics and Metabolism Reports, 2019
We describe a case of 5,10-methenyltetrahydrofolate synthetase (MTHFS) deficiency characterized by microcephaly, global developmental delay, epilepsy, and cerebral hypomyelination.
Jacqueline A. Romero, Imane Abdelmoumen, Daphne Hasbani, Divya S. Khurana, Michael C. Schneider   +4 more
doaj   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, Volume 100, Issue 3, Page 655-671, September 2026.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination [PDF]

, 2017
Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with additional ...
Houlden, H, Lynch, DS, Ryten, M, Tribollet, E, Davagnanam, I, Grp, SYNAPSES, Bashiri, FA, Efthymiou, S, Wood, NW, Botia, JA, Zanetti, MN, Alkuraya, FS, Vandrovcova, J, Bello, O, Patel, N, Rothman, JE, Chelban, V   +16 more
core   +1 more source

Diabetes and the Metabolic Syndrome as Drivers of Neurodegeneration: Convergent Mechanisms Linking Peripheral Neuropathy and Dementia

Annals of Neurology, Volume 100, Issue 3, Page 458-476, September 2026.
The metabolic syndrome, a state of progressive metabolic dysfunction, injures the peripheral and central nervous systems, promoting peripheral neuropathy (PN) and cognitive impairment (CI), respectively. We posit PN and CI are connected in the metabolic syndrome framework, built on the premise that neurons, whether in the peripheral or central nervous ...
Masha G. Savelieff, David L. Bennett, Troels S. Jensen, Eva L. Feldman   +3 more
wiley   +1 more source

Myelination and Remyelination in Peripheral Nerve Injury: Mechanisms, Regulation, and Therapeutic Perspectives [PDF]

MedComm (2020)
Peripheral nerve injury triggers axonal degeneration, myelin breakdown, and Schwann cell reprogramming. Remyelination requires reactivation of the SOX10–OCT6–KROX20/EGR2 transcriptional hierarchy, axonal NRG1–ErbB2/3 signaling, metabolic support, and coordinated immune regulation.
Huang L, Sun T, Zhao Y, Wu Z, Sun J, Li M, Huo Q, Ou Y, Liang Q, Ling C, Zhang B, Chen C, Guo Y, Wang H.   +13 more
europepmc   +2 more sources

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, Volume 67, Issue 9, Page 4907-4921, September 2026.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Loss of oligodendrocyte ErbB receptor signaling leads to hypomyelination, reduced density of parvalbumin-expressing interneurons, and inhibitory function in the auditory cortex

, 2023
For a long time, myelin was thought to be restricted to excitatory neurons, and studies on dysmyelination focused primarily on excitatory cells. Recent evidence showed that axons of inhibitory neurons in the neocortex are also myelinated, but the role of
Corfas, Gabriel, Beatriz C. Borges, Gabriel Corfas, Patrick O. Kanold, Meng, Xiangying, Patrick Long, Borges, Beatriz C., Long, Patrick, Xiangying Meng, Kanold, Patrick O.   +9 more
core   +1 more source