Results 91 to 100 of about 5,681 (206)

Disease specific therapies in leukodystrophies and leukoencephalopathies

, 2015
Leukodystrophies are a heterogeneous, often progressive group of disorders manifesting a wide range of symptoms and complications. Most of these disorders have historically had no etiologic or disease specific therapeutic approaches.
van der Knaap, M.S., Messing, A., Eichler, Florian, Suhr, Dean, Petryniak, M., Wrabetz, L., Braverman, N., Damiani, Stephen, Petryniak, Magdalena, Goldman, Steven A., Bernard, G., van der Knaap, Marjo S., Takanohashi, Asako, Bernard, Genevieve, Wrabetz, Lawrence, Helman, G., Schiffmann, R., Vanderver, A., Leonard, J., Bonkowsky, Joshua L., Rowitch, David, Messing, Albee, Vanderver, Adeline, Takanohashi, A., Escolar, M.L., Back, Stephen A., Escolar, Maria L., Pizzino, A., Patterson, M.C., Eichler, F., van Haren, K., Suhr, D., Patterson, Marc C., Back, S.A., Fatemi, S.A., Damiani, S., Braverman, Nancy, Bonkowsky, J.L., Helman, Guy, van Haren, Keith, Pizzino, Amy, Schiffmann, Raphael, Leonard, Jeff, Goldman, S.A., Rowitch, D., GLIA Consortium, Ali Fatemi, S.   +46 more
core   +1 more source

A Rare Case of Fatty Acid Hydroxylase‐Associated Neurodegeneration in a Pakistani Boy With a Homozygous FA2H Variant

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Fatty acid hydroxylase‐associated neurodegeneration (FAHN) is an ultra‐rare neurological disorder caused by a mutation in the FA2H gene. Defective production of this gene leads to abnormal myelin formation, which subsequently causes neurodegeneration and brain iron accumulation.
Araj Naveed Siddiqui, Yamna Naveed Siddiqui, Noor ul Huda Abbasi, Raman Kumar, Hermann Yokolo   +4 more
wiley   +1 more source

A gray area:Gray matter disease in leukodystrophies [PDF]

Leukodystrophies encompass a broad and heterogeneous range of rare genetic disorders that are characterized by brain white matter involvement as the most prominent abnormality.
Al-Saady, Murtadha Luay
core   +1 more source

Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.395A>T; p.Lys132Met Mutation in CHCHD2

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Biallelic CHCHD2 variants are rare. We report a consanguineous man with a novel homozygous CHCHD2 c.395A>T (p.Lys132Met) variant who developed progressive cognitive decline, apraxia, oculomotor impairment, and pyramidal signs without parkinsonism.
Mehri Salari, Arash Soltani, Masoud Etemadifar, Kamran Rezaei   +3 more
wiley   +1 more source

Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures [PDF]

Objectives: The leukodystrophy “vanishing white matter” (VWM) and “metachromatic leukodystrophy” (MLD) affect the brain's white matter, but have very different underlying pathology.
Al-Saady, Murtadha L., Chan, Kwok Shing, Roosendaal, Stefan D., van der Knaap, Marjo S., Dvorak, Adam, Stellingwerff, Menno D., Wolf, Nicole I., Schoenmakers, Daphne H., Pouwels, Petra J.W., Berkhof, Johannes, van Voorst, Romy, Marques, José P., Kolind, Shannon, Barkhof, Frederik   +13 more
core   +3 more sources

A Novel De Novo Heterozygous Missense Variant in CTNNB1 (c.2215A>C, p.Met739Leu) Underlying Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects (NEDSDV): A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT We report a 7‐year‐old male with microcephaly, spasticity, strabismus, dysmorphism, autistic behaviors, and moderate ID due to a novel de novo likely pathogenic CTNNB1 variant (c.2215A>C, p.Met739Leu). This case underscores Whole Exome Sequencing's diagnostic utility for early detection of rare monogenic neurodevelopmental disorders.
Omar Jamal Ibrahim, Ali Rajabi, Mortaza Bonyadi, Mohammad Barzegar   +3 more
wiley   +1 more source

The expanding knowledge of epilepsy in leukodystrophies

INTRODUCTION: Leukodystrophies are hereditary disorders of the white matter of the central nervous system (CNS) and can be classified into five groups based on pathogenetic mechanisms and pathological changes.
Vaia Y., Lodi M. A. M., Masnada S., Minacapilli E., Veggiotti P., Tonduti D.   +5 more
core   +2 more sources

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology
In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
doaj   +1 more source

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging

Neuropsychiatric Disease and Treatment, 2021
Tongxia Zhang,1,2 Chuanzhu Yan,1,3 Yiming Liu,1 Lili Cao,1 Kunqian Ji,1 Duoling Li,1 Lingyi Chi,2,4,5 Yuying Zhao1 1Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan,
Zhang T, Yan C, Liu Y, Cao L, Ji K, Li D, Chi L, Zhao Y   +7 more
doaj  

Frequency of anti‐neural antibodies and autoimmune epilepsy in focal epilepsy of unknown etiology: An observational study in a Singaporean cohort

Epilepsia Open, Volume 11, Issue 5, Page 1677-1691, October 2026.
Abstract Objective Autoimmune epilepsy (AES) is increasingly recognized as a condition in patients with epilepsy of unknown etiology. Early immunotherapy improves outcomes; however, data on its prevalence and the frequency of anti‐neural/neuronal antibodies in Asian populations remain scarce.
Seong Jin Park, Jeanne May May Tan, Xuejuan Peng, Patricia Yut Wan Wong, Karine Su Shan Tay, Angelia Swee Hoon Koe, Janis Siew Noi Tye, Josiah Yui Huei Chai, Pei Xuan Koh, Yee Leng Tan, Sheila Srinivasan, Ngai Kun Loh, Nigel Choon Kiat Tan, Kevin Tan, Tianrong Yeo   +14 more
wiley   +1 more source