Results 51 to 60 of about 13,975 (131)

Clinical phenotype and genetic characteristics of five patients with adrenomyeloneuropathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2022
Objective To report 5 patients with adrenomyeloneuropathy (AMN), and to summarize the clinical phenotype and gene mutation characteristics in combination with literature and mutation database.
LIU Xiao⁃li , ZHANG Bin , ZHAN Fei⁃xia , CAO Li   +3 more
doaj   +1 more source

Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Leukodystrophies are rare inherited neurodegenerative disorders characterized by progressive white matter dysfunction and neurological decline. In low‐resource settings, limited access to advanced neuroimaging, biochemical investigations, and genetic testing often delays diagnosis and complicates differentiation from more common infectious ...
William Nkenguye, Mujaheed Suleman, Jay Lodhia   +2 more
wiley   +1 more source

Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets

MedComm, Volume 7, Issue 10, October 2026.
Proper myelin formation is crucial for normal neural circuit function, while myelin deficiency can lead to neural circuit dysfunction and cognitive decline, notably in Alzheimer's disease and other central nervous system demyelinating disorders. This review summarizes central myelin's structure and function, demyelination biomarkers and pathological ...
Lihong Huang, Peng Cheng, Guangdong Liu, Yang Xiang, Zhen Hong, Weidong Le   +5 more
wiley   +1 more source

Bone Marrow Transplant in Adrenoleukodystrophy

Pediatric Neurology Briefs, 1997
Three children with adrenoleukodystrophy (ALD) were treated with allogeneic bone marrow transplantation (BMT) at Huddinge University Hospital, Sweden.
J Gordon Millichap
doaj   +1 more source

Microglia and neuroinflammation: An in‐depth analysis from functional diversity to disease mechanisms

Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
1. Microglial functions arise from dynamic, context‐dependent programs rather than fixed M1/M2 phenotypes. 2. Inflammatory, interferon‐responsive, phagocytic/lipid‐metabolic and repair‐associated programs coexist across disease stages and brain regions. 3.
Jie Chen, Wangzheqi Zhang, Lizhou Song, Yan Liao, Haoling Zhang, Yiyang Xia, Derong Cui   +6 more
wiley   +1 more source

Cost–Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study

International Journal of Neonatal Screening
X-linked adrenoleukodystrophy (ALD) is an inherited metabolic disorder that can cause adrenal insufficiency and cerebral ALD (cALD) in childhood. Early detection prevents adverse health outcomes and can be achieved by newborn screening (NBS) followed by ...
Rosalie C. Martens, Hana M. Broulikova, Marc Engelen, Stephan Kemp, Anita Boelen, Robert de Jonge, Judith E. Bosmans, Annemieke C. Heijboer   +7 more
doaj   +1 more source

Lorenzo Oil Therapy for Adrenoleukodystrophy

Pediatric Neurology Briefs, 1993
Dietary therapy with glycerol trioleate and glycerol trierucate (Lorenzo oil) was tested in 108 adult patients with adrenomyeloneuropathy phenotype of adrenoleukodystrophy (ALD) at Johns Hopkins Hospital and the Kennedy Krieger Institute, Baltimore, MD.
J Gordon Millichap
doaj   +1 more source

ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy

The Application of Clinical Genetics, 2022
Alyssa M Volmrich,1 Lauren M Cuénant,1 Irman Forghani,2 Sharon L Hsieh,3 Lauren T Shapiro1 1Department of Physical Medicine & Rehabilitation, University of Miami Miller School of Medicine, Miami, FL, USA; 2Department of Human Genetics, University of ...
Volmrich AM, Cuénant LM, Forghani I, Hsieh SL, Shapiro LT   +4 more
doaj  

Empowering Clinical Development With Disease Progression Modeling: Recommendations From the Clinical Trials Transformation Initiative

Clinical and Translational Science, Volume 19, Issue 8, August 2026.
ABSTRACT Evaluating the benefit–risk profile of a medical product requires comprehensive evidence that integrates information across development stages. Technological advances and broader use of real‐world data are enabling innovative quantitative paradigms characterized by greater efficiency, patient centricity, and sustainability.
Lindsay S. Kehoe, Shu Chin Ma, Jiang Liu, Qi Liu, Herbert Pang, Bruce Burnett, Reem Yunis, Karthik Venkatakrishnan   +7 more
wiley   +1 more source

A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease

Indian Journal of Psychiatry, 2016
Adrenoleukodystrophy (ALD) is an X-linked disorder with diverse clinical presentations. A 30-year-old male, previously diagnosed with Addison's disease, on steroid supplementation for 18 years, presented to us with manic symptoms for 4 years.
K. S. Jyothi, Cyriac George, K. S. Shaji
doaj   +1 more source