Results 71 to 80 of about 13,979 (223)

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)

, 2009
International audienceMetachromatic leukodystrophy (WILD) is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A (ARSA).
Boespflug-Tanguy, Odile, Dorboz, Imen, Kefi, Rym, Miladi, Najoua, Grp, Tunisian Leukodystrophy Study, Eymard-Pierre, Eléonore, Abdelhak, Sonia   +6 more
core   +1 more source

A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY

Pakistan Armed Forces Medical Journal, 2021
Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination.
Muhammad Mohsin Sajjad, Sidra Yousaf
doaj  

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

Frontiers in Neurology, 2019
Alexander disease (AxD) is a rare, autosomal dominant neurological disorder. Three clinical subtypes are distinguished based on age at onset: infantile (0–2 years), juvenile (2–13 years), and adult (>13 years).
Andrea Ciammola, Davide Sangalli, Jenny Sassone, Jenny Sassone, Barbara Poletti, Laura Carelli, Paolo Banfi, Gabriele Pappacoda, Isabella Ceccherini, Alice Grossi, Luca Maderna, Monica Pingue, Monica Pingue, Floriano Girotti, Vincenzo Silani, Vincenzo Silani   +15 more
doaj   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Leukodystrophy and Ovarian Dysgenesis

, 1997
Clinical, biochemical, pathological, and spectroscopic findings in 4 women, aged 15 to 29 years, with leukodystrophy and primary ovarian dysgenesis, are reported from the National Institutes of Neurological Disease, and Child Health and Development ...
J Gordon Millichap
core   +1 more source

When chronic ischemia in thalassemia mimics leukodystrophy: Case report with review of literature

CHRISMED Journal of Health and Research, 2017
We present magnetic resonance imaging (MRI) brain picture of a 10-month-old child suffering from thalassemia major. The picture had changes that mimicked leukodystrophy.
Sukriti Kumar, Manish Gutch
doaj   +1 more source

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Metachromatic Leukodystrophy

, 1990
A ten year old girl with metachromatic leukodystrophy in whom neurophysiologic function and sulfatide metabolism had improved after she received a bone marrow transplant five years before is reported from the Bone Marrow Transplantation Program ...
J Gordon Millichap
core   +1 more source

Metachromatic leukodystrophy and transplantation:remyelination, no cross-correction [PDF]

, 2020
Objective: In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneration ...
Bonnie Plug, Marjolein Breur, Marianna Bugiani, van der Knaap, Marjo S., Caroline A. Lindemans, Maarten H. P. Kole, van Rappard, Diane F., de Vries, Sharon I., Boelens, Jaap J., Marjo S. van der Knaap, Adeline Vanderver, Lindemans, Caroline A., Ulrich Matzner, Vanderver, Adeline, van Hasselt, Peter M., Matzner, Ulrich, de Vries, Sharon, I, Wolf, Nicole, I, Beerepoot, Shanice, Kole, Maarten H.P., Volkmar Gieselmann, Plug, Bonnie, Westerveld, Aimee S.R., Jaap J. Boelens, Kole, Maarten H. P., Nicole I. Wolf, Diane F. van Rappard, Westerveld, Aimee S. R., Wolf, Nicole I., Aimee S. R. Westerveld, Breur, Marjolein, Peter M. van Hasselt, Gieselmann, Volkmar, Bugiani, Marianna, Shanice Beerepoot, Sharon I. de Vries   +35 more
core   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source