Results 11 to 20 of about 13,979 (223)

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   +2 more sources

Anything is better than nothing’: exploring attitudes towards novel therapies in leukodystrophy clinical trials

Orphanet Journal of Rare Diseases
Background/Aim Leukodystrophies comprise a group of genetic white matter disorders that lead to progressive motor and cognitive impairment. Recent development of novel therapies has led to an increase in clinical trials for leukodystrophies.
Ella Wilson, Richard Leventer, Chloe Cunningham, Michelle G. de Silva, Jan Hodgson, Eloise Uebergang   +5 more
doaj   +2 more sources

Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy. [PDF]

Dev Med Child Neurol
Abstract Aim To describe the use of the Pediatric Evaluation of Disability Index‐Computer Adapted Test (PEDI‐CAT), a parent‐reported outcome, and determine functional performance in a cohort with leukodystrophy. Method This was a cross‐sectional observational study.
Cusack SV, Glanzman AM, Gavazzi F, Woidill S, Jawad AF, Estilow T, Waldman AT, Vanderver A, Adang L, Children's Hospital of Philadelphia Leukodystrophy Workgroup.   +9 more
europepmc   +2 more sources

A hypomyelinating leukodystrophy in German Shepherd dogs. [PDF]

, 2021
BACKGROUND Shaking puppy syndrome is commonly attributed to abnormal myelination of the central nervous system. HYPOTHESIS/OBJECTIVES To report the long-term clinical course and the imaging characteristics of hypomyelinating leukodystrophy in ...
Quitt, Pia R., Brühschwein, Andreas, Quitt, Pia R, Marjo K. Hytönen, Andreas Brühschwein, Berett Dengler, Andrea Fischer, Dengler, Berett, Hannes Lohi, Matiasek, Kaspar, Hytönen, Marjo K, Pia R. Quitt, Franziska Wielaender, Fischer, Andrea, Andrea Meyer‐Lindenberg, Tosso Leeb, Bruehschwein, Andreas, Lohi, Hannes, Hytönen, Marjo, Kaspar Matiasek, Hytonen, Marjo K., Veera Karkamo, Leeb, Tosso, Wielaender, Franziska, Karkamo, Veera, Meyer-Lindenberg, Andrea   +25 more
core   +3 more sources

Leukodystrophy in children. Globoid cell leukodystrophy. Clinical case [PDF]

, 2023
 Annotation: Pediatric globoid cell leukodystrophy (GLD, or Crabbe's disease) is a rare hereditary degenerative disease of the central and peripheral nervous systems.
Mamatkulova Mahbuba Tojialiyevna
core   +1 more source

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy

Frontiers in Physiology, 2020
BackgroundMyelopathy is the core clinical manifestation of adrenoleukodystrophy (ALD), which is the most common peroxisomal disorder. Development of therapies requires sensitive and clinically relevant outcome measures. Together with spastic paraparesis,
Wouter J. C. van Ballegoij, Wouter J. C. van Ballegoij, Stephanie I. W. van de Stadt, Irene C. Huffnagel, Stephan Kemp, Stephan Kemp, Marjo S. van der Knaap, Marjo S. van der Knaap, Marc Engelen   +8 more
doaj   +1 more source

Optical coherence tomography to measure the progression of myelopathy in adrenoleukodystrophy

Annals of Clinical and Translational Neurology, 2021
Objective To prospectively determine the value of optical coherence tomography (OCT) as a surrogate outcome measure for the progression of myelopathy in males with adrenoleukodystrophy.
Wouter J. C. vanBallegoij, Irene C. Huffnagel, Stephanie I. W. van deStadt, Henry C. Weinstein, Carlien A. M. Bennebroek, Marc Engelen, Frank D. Verbraak   +6 more
doaj   +1 more source

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

Biomedicines, 2022
Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_007055.3)
Antonino Musumeci, Francesco Calì, Carmela Scuderi, Mirella Vinci, Girolamo Aurelio Vitello, Sebastiano Antonino Musumeci, Valeria Chiavetta, Concetta Federico, Greta Amore, Salvatore Saccone, Gabriella Di Rosa, Antonio Gennaro Nicotera   +11 more
doaj   +1 more source

Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA

Annals of Clinical and Translational Neurology, 2023
Objective Mucopolysaccharidosis type IIIA (MPSIIIA) caused by recessive SGSH variants results in sulfamidase deficiency, leading to neurocognitive decline and death. No disease‐modifying therapy is available.
Marianna Bugiani, Truus E. M. Abbink, Arthur W. D. Edridge, Lia van derHoek, Anne E. J. Hillen, Niek P. vanTil, Gino V. Hu‐A‐Ng, Marjolein Breur, Karen Aiach, Philippe Drevot, Michaël Hocquemiller, Ralph Laufer, Frits A. Wijburg, Marjo S. van derKnaap   +13 more
doaj   +1 more source

Alexander Disease

Journal of the Belgian Society of Radiology, 2021
Main teaching point: The main differential diagnosis of leukodystrophy associated with macrocephaly consists of Alexander disease, Canavan disease, and megalencephalic leukodystrophy with subcortical cysts.
Laura Hartog, Sven Dekeyzer, Stephanie Vanden Bossche   +2 more
doaj   +1 more source