Results 51 to 60 of about 7,353 (158)

Prenatal metachromatic leukodystrophy

, 1975
In a family with a metachromatic leukodystrophy patient, two further pregnancies at risk were monitored by amnion cell culture. In one case, a normal baby was predicted and born. In the other case, a prenatal deficiency of arylsulfatase A was found.
Meier, C, Spycher, M A, Schmid, Werner, Bischoff, A, Wiesmann, U N, Gautier, E, Herschlowitz, N   +6 more
core   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1206-1221, June 2026.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 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

Transforming Brain Health With Neurotechnological Convergence (Part I): Precision Diagnostics and Targeted Interventions

Brain Health, Volume 1, Issue 2, 24 June 2026.
ABSTRACT Brain disorders are a critical global health challenge, affecting approximately half the world's population (∼4 billion individuals) in 2021 and accounting for 5139 disability‐adjusted life years per 100,000 population. The ramifications extend well beyond clinical manifestations to substantial economic losses, strained healthcare systems, and
Yangyang Duan, Yifan Fu, Zehan Wu, Wenyue Zheng, Ge Lv, Liang Chen, Jiawen Wu, Zao Han, Qing Dai, Quansheng Gu, Hiu Yi Wong, Amy K. Y. Fu, Ying Mao, Nancy Y. Ip   +13 more
wiley   +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

Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy

, 2013
We sought to illustrate improvement of cerebral white matter changes in metachromatic leukodystrophy after treatment with hematopoietic stem cell transplant (HSCT).
Wolf, Nicole I., Lindemans, Caroline A., van Egmond, Martje E., Pouwels, Petra J. W., van der Knaap, Marjo S., Boelens, Jaap-Jan, Barkhof, Frederik, van Hasselt, Peter M., Steenwijk, Martijn D.   +8 more
core   +2 more sources

Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry[S]

Journal of Lipid Research, 2015
Sulfatides are found in brain as components of myelin, oligodendrocytes, and neurons but are also present in various visceral tissues. Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disorder caused by a deficiency of arylsulfatase A,
Mina Mirzaian, Gertjan Kramer, Ben J.H.M. Poorthuis   +2 more
doaj   +1 more source

Metachromatic Leucodystrophy: A Case Report

Journal of Karnali Academy of Health Sciences, 2021
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive inherited disease, which is caused by a deficiency in the enzyme activity of Arylsulfatase A (ARSA). Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside
Ramchandra Bastola, Shree Krishna Shrestha, Amrita Ghimire, Sunita Ghimire   +3 more
doaj   +2 more sources

The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India

Annals of Indian Academy of Neurology, 2016
Objective: The objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India ...
Sheffali Gulati, Puneet Jain, Biswaroop Chakrabarty, Atin Kumar, Neerja Gupta, Madhulika Kabra   +5 more
doaj   +1 more source

Inhibition of PLA2G15 Alleviates Palmitic Acid‐Induced Lysosomal Membrane Permeabilization in Human Nucleus Pulposus Cells During Intervertebral Disc Degeneration

JOR SPINE, Volume 9, Issue 2, June 2026.
LMP is responsible for lysosomal dysfunction in IDD. The lipid composition changes in the lysosomal membrane, mediated by PLA2G15, are the cause of LMP. The C/EBPα significantly promotes PLA2G15 expression under PA overload stress. Inhibition of PLA2G15 alleviates PA‐induced LMP by inhibiting the hydrolysis of lysosomal membrane phospholipids. ABSTRACT
Liqun Duan, Jiang Jiang, Shuangshuang Tu, Chuanfu Li, Yijun Dong, Yongjin Li, Wenzhi Zhang, Xi Chen   +7 more
wiley   +1 more source