Results 21 to 30 of about 9,985 (202)

Inpatient Deaths in Pediatric Leukodystrophies. [PDF]

Ann Child Neurol Soc
ABSTRACT Background and Objectives Leukodystrophies are neurogenetic diseases affecting the white matter of the central nervous system. The contributing factors for leukodystrophy mortality are incompletely understood. Our objectives were to characterize inpatient deaths of pediatric leukodystrophies, including demographics and risk factors.
Hart HS, Vordos KL, Flood CT, Isakson DJ, Novoa A, Bonkowsky JL.   +5 more
europepmc   +2 more sources

Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations. [PDF]

Clin Genet
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Prasun P, Rasberry M.
europepmc   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Sala-Coromina J, Marcé-Grau A, Masotto B, Codina M, BenJemaa L, Elaribi Y, Martinez-Gallo M, Colobran R, Sanchez-Montañez A, Valenzuela I, Murakami Y, Macaya A.   +11 more
europepmc   +2 more sources

Developmental Deficiency of Oligodendrocytes and Myelination in the Central Nervous System of the Fetal Alcohol Syndrome Mouse Model. [PDF]

CNS Neurosci Ther
Impaired myelination was observed in the central nervous system (CNS) of the male fetal alcohol spectrum disorder (FASD) offspring associated with hyperactivity‐like behaviors, whereas the female FASD mice exhibit delayed myelin formation and normal behaviors, indicating a gender‐specific manner of FASD pathology.
Liang X, Yi R, Ke Z, Zhang Y, Zhou L.
europepmc   +2 more sources

Phenotypic characterization of hypomyelination and congenital cataract

, 2007
To define the clinical and laboratory findings in a novel autosomal recessive white matter disorder called hypomyelination and congenital cataract, recently found to be caused by a deficiency of a membrane protein, hyccin, encoded by the DRCTNNB1A gene ...
Biancheri, Roberta, Bruno, Claudio, Schenone, Angelo, Bado, Massimo, Gazzerro, Elisabetta, van der Knaap, Marjo S., Tortori-Donati, Paolo, Lisanti, Michael P., Zara, Federico, Rozemuller, Annemieke J.M., Sotgia, Federica, Uziel, Graziella, Bordo, Laura, Pedemonte, Marina, Bugiani, Marianna, Rossi, Andrea, Lamba, Laura Doria, Costa, Valeria, Rozemuller, Annemieke J. M., Scapolan, Sara, Minetti, Carlo   +20 more
core   +3 more sources

Hypomyelination and congenital cataract: Three siblings presentation [PDF]

, 2020
Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the FAM126A gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral ...
Gürkaş Esra, Karalök, Zeynep Selen, Aydın, Kürşad, Ceylaner, Serdar   +3 more
core   +1 more source

Prenatal overexpression of platelet‐derived growth factor receptor A results in central nervous system hypomyelination

Brain and Behavior, 2021
Background Platelet‐derived growth factor (PDGF) signaling, through the ligand PDGF‐A and its receptor PDGFRA, is important for the growth and maintenance of oligodendrocyte progenitor cells (OPCs) in the central nervous system (CNS). PDGFRA signaling is
Herminio Joey Cardona, Agila Somasundaram, Donna M. Crabtree, Samantha L. Gadd, Oren J. Becher   +4 more
doaj   +1 more source

A Glance at the Molecules That Regulate Oligodendrocyte Myelination

Current Issues in Molecular Biology, 2022
Oligodendrocyte (OL) myelination is a critical process for the neuronal axon function in the central nervous system. After demyelination occurs because of pathophysiology, remyelination makes repairs similar to myelination.
Shunqi Wang, Yingxing Wang, Suqi Zou
doaj   +1 more source

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

Frontiers in Neurology, 2023
IntroductionRare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes ...
Stefanie Perrier, Stefanie Perrier, Kether Guerrero, Kether Guerrero, Luan T. Tran, Luan T. Tran, Mackenzie A. Michell-Robinson, Mackenzie A. Michell-Robinson, Geneviève Legault, Geneviève Legault, Geneviève Legault, Bernard Brais, Bernard Brais, Bernard Brais, Michel Sylvain, James Dorman, James Dorman, Michelle Demos, Wolfgang Köhler, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard   +28 more
doaj   +1 more source

Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant

Epilepsia Open, 2021
Objective Kinesin family member 5A (KIF5A) is a molecular motor protein responsible for intracellular transport, specifically in neurons. While abnormalities in the KIF5A gene have been reported in the onset of various neurological diseases, there are no
Masataka Fukuoka, Shin Okazaki, Kiyohiro Kim, Megumi Nukui, Takeshi Inoue, Ichiro Kuki, Hisashi Kawawaki, Mitsuko Nakashima, Naomichi Matsumoto   +8 more
doaj   +1 more source