Results 51 to 60 of about 24,692 (277)

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

Frontiers in Neurology, 2023
Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a later age ...
Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K. Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova   +9 more
doaj   +1 more source

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts [PDF]

, 2018
OBJECTIVE: Loss of function of the astrocyte-specific protein MLC1 leads to the childhood-onset leukodystrophy "megalencephalic leukoencephalopathy with subcortical cysts" (MLC).
Boschert, U, Brouwers, E, Bugiani, M, Dubey, M, Hamilton, EMC, Koch, H, Kole, MHP, Mansvelder, HD, Min, R, Stiedl, O, van der Knaap, MS, Wykes, RC   +11 more
core   +1 more source

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Medical Science
Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis.
Rajvi N. Thakkar, Drashti Patel, I. Kioutchoukova, Raja Al-Bahou, P. Reddy, Devon Foster, Brandon Lucke‐Wold   +6 more
semanticscholar   +1 more source

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Human Mutation, 2020
LARS2 variants are associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss, and with an infantile lethal multisystem disorder: Hydrops, lactic acidosis, sideroblastic anemia (HLASA) in one individual.
L. Riley, J. Rudinger-Thirion, M. Frugier, Meredith Wilson, M. Luig, T. Alahakoon, C. Nixon, E. Kirk, T. Roscioli, S. Lunke, Zornitza Stark, K. Wierenga, Sirish K Palle, Maie Walsh, E. Higgs, S. Arbuckle, Shalini Thirukeswaran, A. Compton, D. Thorburn, J. Christodoulou   +19 more
semanticscholar   +1 more source

Metachromatic leukodystrophy associated with choledochal cysts and gallbladder papillomatosis

Journal of Pediatric Surgery Case Reports, 2019
Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A which is responsible for the desulfation of cerebroside sulfate, a myelin glycolipid.
Raed Al-Taher, Fareed Khdair Ahmad, Mohammad Rashdan, Ibrahim Khrais, Sahar Almustafa   +4 more
doaj   +1 more source

Atypical MRI features in familial adult onset Alexander disease: case report [PDF]

, 2016
BACKGROUND: Alexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinical and radiological features. CASE PRESENTATION: We diagnosed a female with AxD presenting with paroxysmal numbness of the limbs at the ...
Anna Zhou, Heng Zhou, Huabing Wang, Lin Zhao, Xiaoqing Gong, Xindi Li, Xinghu Zhang, Yonghong Liu   +7 more
core   +1 more source

Astroglia in Leukodystrophies

, 2019
Leukodystrophies are genetically determined disorders affecting the white matter of the central nervous system. The combination of MRI pattern recognition and next-generation sequencing for the definition of novel disease entities has recently demonstrated that many leukodystrophies are due to the primary involvement and/or mutations in genes ...
Jorge, M. S., Bugiani, Marianna
openaire   +4 more sources

Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice

Annals of Neurology, 2020
Marked elevation in the brain concentration of N‐acetyl‐L‐aspartate (NAA) is a characteristic feature of Canavan disease, a vacuolar leukodystrophy resulting from deficiency of the oligodendroglial NAA‐cleaving enzyme aspartoacylase.
V. Hull, Yan Wang, Travis Burns, Sheng Zhang, S. Sternbach, J. McDonough, Fuzheng Guo, D. Pleasure   +7 more
semanticscholar   +1 more source

POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?

Faculty Reviews, 2021
Hypomyelinating leukodystrophies are a group of genetic disorders characterized by insufficient myelin deposition during development. A subset of hypomyelinating leukodystrophies, named RNA polymerase III (Pol III or POLR3)-related leukodystrophy or 4H ...
B. Coulombe, A. Derksen, Roberta La Piana, B. Brais, M. Gauthier, G. Bernard   +5 more
semanticscholar   +1 more source

Human Glial Progenitor Cells Effectively Remyelinate the Demyelinated Adult Brain

Cell Reports, 2020
Summary: Neonatally transplanted human glial progenitor cells (hGPCs) can myelinate the brains of myelin-deficient shiverer mice, rescuing their phenotype and survival.
Martha S. Windrem, Steven J. Schanz, Lisa Zou, Devin Chandler-Militello, Nicholas J. Kuypers, Maiken Nedergaard, Yuan Lu, John N. Mariani, Steven A. Goldman   +8 more
doaj   +1 more source