Results 11 to 20 of about 13,975 (131)

Posterior Disconnection Syndrome in Early-Stage Adult-Onset Cerebral Adrenoleukodystrophy. [PDF]

Ann Clin Transl Neurol
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Katsuse K, Matsukawa T, Nakamura Y, Kakinuma K, Ota S, Hara R, Nakashima S, Ito K, Nakamori Y, Kakumoto T, Hamada M, Kanno S, Suzuki K, Toda T.   +13 more
europepmc   +2 more sources

Expanded Umbilical Cord Blood Transplantation in Cerebral X-Linked Adrenoleukodystrophy: A Case Report. [PDF]

EJHaem
ABSTRACT Umbilical cord blood transplantation is a viable source of stem cells due to accessibility and low incidence of chronic graft‐versus‐host disease despite human‐leukocyte‐antigen mismatching. Disadvantages of low stem cell dose in larger recipients include delayed immune reconstitution, graft rejection, and mortality.
Granberg RE, Pfeiffer T, Sansar S, Galindo R, Shenoy S.   +4 more
europepmc   +2 more sources

Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology Center in Sweden. [PDF]

JIMD Rep
ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Ernerdahl B, Yahia A, Puschmann A.
europepmc   +2 more sources

Longitudinal Clinical Progression in X‐Linked Adrenoleukodystrophy: The AMNL Scoring System [PDF]

Ann Child Neurol Soc
ABSTRACT Objective The current clinical nomenclature for individuals with ABCD1 gene dysfunction is often uninformative. The disorder was initially described as a combination of adrenal insufficiency and leukodystrophy, leading to the widespread use of “X‐linked adrenoleukodystrophy” (ALD).
Kabak E, Videbaek C, Voermans M, van Geel B, van Haren K, Kemp S, van de Beek D, Engelen M.   +7 more
europepmc   +2 more sources

Inpatient Deaths in Pediatric Leukodystrophies [PDF]

Ann Child Neurol Soc
ABSTRACT Background and Objectives Leukodystrophies are neurogenetic diseases affecting the white matter of the central nervous system. The contributing factors for leukodystrophy mortality are incompletely understood. Our objectives were to characterize inpatient deaths of pediatric leukodystrophies, including demographics and risk factors.
Hart H, Vordos K, Flood C, Isakson D, Novoa A, Bonkowsky J.   +5 more
europepmc   +2 more sources

Novel Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease [PDF]

Endocrinology and Metabolism, 2020
X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1).
Yun Kyung Cho, Seo-Young Lee, Sang-Wook Kim   +2 more
doaj   +1 more source

Adrenoleukodystrophy: Childhood and Adult Forms Compared

Pediatric Neurology Briefs, 1991
Saturated, very long-chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood-adolescent adrenoleukodystrophy, 4 patients with adult adrenoleukodystrophy and 19 normal control subjects in ...
J Gordon Millichap
doaj   +1 more source

Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation

Frontiers in Molecular Neuroscience, 2023
Microglia are crucial for brain homeostasis, and dysfunction of these cells is a key driver in most neurodegenerative diseases, including peroxisomal leukodystrophies.
Ali Tawbeh, Quentin Raas, Mounia Tahri-Joutey, Mounia Tahri-Joutey, Céline Keime, Romain Kaiser, Doriane Trompier, Boubker Nasser, Emma Bellanger, Marie Dessard, Yannick Hamon, Alexandre Benani, Francesca Di Cara, Tânia Cunha Alves, Johannes Berger, Isabelle Weinhofer, Stéphane Mandard, Mustapha Cherkaoui-Malki, Pierre Andreoletti, Catherine Gondcaille, Stéphane Savary   +20 more
doaj   +1 more source

Clinical and Genetic Analysis of Adrenoleukodystrophy in Adults

罕见病研究, 2022
Objective Adrenoleukodystrophy (ALD) is the most common peroxisomal diseases with high clinical and genetic heterogeneity. Our study is to analyze the phenotype and genotype characteristics of adult patients with ALD. Methods A total of 18 adult patients
WANG Mengwen, WU Chujun, ZHANG Zaiqiang
doaj   +1 more source

Adrenoleukodystrophy [PDF]

Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2016
Introduction: Adrenoleukodystrophy (ALD) is a disease characterized by the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and
Nišić Tatjana, Ćirić Jasmina, Dragašević-Mišković N., Stojanović Miloš, Beleslin Biljana, Stojković Mirjana, Savić Slavica, Lalić Tijana, Barać M., Žarković Miloš   +9 more
doaj   +1 more source