Results 101 to 110 of about 13,979 (223)

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, Volume 110, Issue 3, Page 325-335, September 2026.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Metachromatic leukodystrophy: consequences of sulphatide accumulation

, 2003
Metachromatic leukodystrophy is a lysosomal lipid storage disorder. It is caused by mutations in the gene for arylsulphatase A, an enzyme involved in the degradation of the sphingolipid 3'-O-sulphogalactosylceramide (sulphatide).
V Gieselmann, R Sandhoff, L\ufcllmann-Rauch, R., Hartmann, D., R D'Hooge, Saravanan, V. P. M., Saravanan, V.P., JE Mansson, R Lüllmann Rauch, PP Deyn, S Franken, Mansson, J. E., Schaeren-Wiemers, N., Mansson, J.E., D Klein, D'Hooge, R., Sandhoff, R., Gieselmann, V., Van Der Linden, A. M., Franken, S., Lüllmann Rauch, R., D Hartmann, N Schaeren-Wiemers, Klein, D., De Deyn, P. P., VPM Saravanan, AM Linden, De Deyn, P.P., Van Der Linden, A.-M., d' Hooge, R.   +29 more
core   +1 more source

Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 9, Page 1316-1324, September 2026.
This original article is commented on by Domínguez‐Carral and Ortigoza‐Escobar on pages 1182–1183 of this issue. Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry.
Larissa R. Heideman, Nicole I. Wolf, Moritz Thiel, Jolanda H. Schieving, Chris De Kruiff, Suzanne van den Bos, Eva Van Heeringen‐Broekhuizen, J. Jasper Deuring, Annemieke I. Buizer, Laura A. Van De Pol   +9 more
wiley   +1 more source

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

, 2020
Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with RARS1-related disease ...
Wolf N. I., Magri S., Beerepoot S., Muhle H., Green L. M. C., Salsano E., Moroni I., Salomons G. S., Smith D., Bernard G., Emrick L., Taroni F., Bertini E., Brunetti-Pierri N., Ismayl O., Russell L., Tonduti D., Cappuccio G., Fraser J., Mendes M. I., Vanderver A. L., Hertecant J., von Spiczak S., Koenig M. K., Aiello C., van der Knaap M. S., Mendelsohn B. A., Livingston J. H., Rhee J., Helbig K., Helbig I., Di Bella D.   +31 more
core   +1 more source

Metachromatic leukodystrophy - Diffusion MR imaging and proton MR spectroscopy

, 2003
Metachromatic leukodystrophy is characterized by dysmyelination caused by a deficiency of arylsulfatase-A. In a 17-month-old boy with metachromatic leukodystrophy, an echo-planar diffusion MR sequence revealed a restricted diffusion pattern in the deep ...
Sener, RN, Sener R.N.
core   +1 more source

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

Frontiers in Genetics
The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter.
Emma M. J. Passchier, Emma M. J. Passchier, Quinty Bisseling, Quinty Bisseling, Guy Helman, Rosalina M. L. van Spaendonk, Cas Simons, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Marjo S. van der Knaap, Rogier Min, Rogier Min   +15 more
doaj   +1 more source

Congenital methemoglobinemia type II in a 5‐year‐old boy

Clinical Case Reports, 2018
Key Clinical Message Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies.
Elizabeth A. Mannino, Thomas Pluim, Jacob Wessler, Megan T. Cho, Jane Juusola, Samantha A. Schrier Vergano   +5 more
doaj   +1 more source

Biochemical pathogenesis of genetic leukodystrophies: comparison of metachromatic leukodystrophy and globoid cell leukodystrophy (Krabbe\u27s disease).

, 1984
Among the genetic leukodystrophies known to occur in man, the fundamental genetic defects have been clarified in two disorders, metachromatic leukodystrophy and globoid cell leukodystrophy (Krabbe\u27s disease).
Suzuki, K, Samy, Ravi N, MD
core   +1 more source

Diagnostic Pitfall in Genomic Era: Discordant SMARCA2 Finding in Patient with Megalencephalic Leukoencephalopathy with Subcortical Cysts

Diagnostics
Next-generation sequencing has transformed the diagnostic approach to rare neurogenetic disorders. However, interpretation of molecular findings remains challenging when identified variants are discordant with the clinical phenotype.
Chih-Hao Wang, Shuan-Pei Lin, Jon-Kway Huang, Nan-Chang Chiu   +3 more
doaj   +1 more source

Astrocyte-specific deletion of LRRC8A causes neurological dysfunction but not chronic white matter edema

Neurobiology of Disease
Volume-regulated anion channels (VRACs) are central to cell volume homeostasis. They mediate swelling-induced efflux of chloride and organic osmolytes to drive regulatory volume decrease.
Sven Kerst, Leoni Hoogterp, Marjolein Breur, Gemma M. van Rooijen-van Leeuwen, Marianna Bugiani, Rajan Sah, Huibert D. Mansvelder, Marjo S. van der Knaap, Rogier Min   +8 more
doaj   +1 more source