Results 61 to 70 of about 1,447 (169)

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  

Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid-A case report

Lipids in Health and Disease, 2011
This is a case report of adrenomyeloneuropathy (AMN), the adult variant of adrenoleukodystryphy (ALD). The diagnoses in the patient, aged 34, was confirmed via increased serum very long chain fatty acid concentration (VLCFA).
Bergh Jacobus J, van der Walt Mietha M, Terre'Blanche Gisella, Mienie Lodewyk J   +3 more
doaj   +1 more source

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

Case Reports in Genetics, 2020
Background. The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation.
John E. Richter Jr., Charitha Vadlamudi, Sarah K. Macklin, Ayesha Samreen, Haytham Helmi, Daniel Broderick, Ahmed N. Mohammad, Stephanie L. Hines, Jay A. VanGerpen, Paldeep S. Atwal, Thomas R. Caulfield   +10 more
doaj   +1 more source

Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.

Journal of Lipid Research, 1988
In recent years a growing number of inherited diseases have been recognized to originate from an impairment in one or more peroxisomal functions. Since it is well established that the first two steps in the biosynthesis of plasmalogens proceed in ...
G Schrakamp, C G Schalkwijk, R B Schutgens, R J Wanders, J M Tager, H van den Bosch   +5 more
doaj   +1 more source

Adrenomyeloneuropathy (AMN): myelinopathy or axonopathy?

Free Neuropathology, 2023
Herbert Budka
doaj   +1 more source

The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology

Orphanet Journal of Rare Diseases
Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role is in the disease process.
Hemmo A.F. Yska, Marc Engelen, Marianna Bugiani   +2 more
doaj   +1 more source

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES

Revista Paulista de Pediatria
Objective: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. Methods: Specific data related
Fernanda Luiza Schumacher Furlan, Macleise Andres Lemes, Ligia Cecilia Fuverki Suguimatsu, Carolina Teixeira Furquim Pires, Mara Lucia Schmitz Ferreira Santos   +4 more
doaj   +1 more source

Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study

Orphanet Journal of Rare Diseases
Background Adrenomyeloneuropathy (AMN) is a neurodegenerative disease phenotype of X-linked adrenoleukodystrophy (ALD), resulting in progressive myeloneuropathy causing spastic paraparesis, sensory ataxia, and bowel/bladder symptoms.
Joshua L. Bonkowsky, Bridget Healey, Naomi C. Sacks, Ronaé McLin, Philip L. Cyr, Eileen K. Sawyer, Christopher D. Stephen, Florian Eichler   +7 more
doaj   +1 more source

Schizophreniform Psychosis and Adrenomyeloneuropathy [PDF]

Journal of the Royal Society of Medicine, 1984
A C, James, P, Kaplan, A, Lees, J J, Bradley   +3 more
openaire   +2 more sources

Considering the myelin-centric hypothesis: insights from Budka's historical adrenomyeloneuropathy case report

Free Neuropathology, 2023
ETTORE SALSANO, Chiara Benzoni
doaj   +1 more source