Results 21 to 30 of about 7,234,150 (180)

Reversal of Endogenous Bioelectrical Network Collapse in Advanced Childhood Cerebral X-Linked Adrenoleukodystrophy [PDF]

Neurology International
Background/Objectives: Advanced childhood cerebral X-linked adrenoleukodystrophy (cALD) is traditionally regarded as an irreversible terminal phase of neurodegeneration driven by inflammatory demyelination and axonal loss. Experimental evidence indicates
Salvatore Rinaldi, Arianna Rinaldi, Vania Fontani   +2 more
doaj   +2 more sources

Adrenomyeoloneuropathy, X-linked adrenoleukodystrophy phenotype. A Case Report [PDF]

Revista Habanera de Ciencias Médicas, 2018
Introduction: Adrenomyeoloneuropathy is a peroxisomal disease with a sex-linked pattern of inheritance. It is a phenotypic variety of X-linked adrenoleukodystrophy; this last one is also a cause of adrenal insufficiency.
Alberto Juan Dorta-Contreras, Cristóbal González-Losada, Daisy Wainshtok-Tomás   +2 more
doaj   +1 more source

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling [PDF]

Balkan Journal of Medical Genetics
X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. In this study, we report the case of a Moroccan patient diagnosed with X-ALD due to a mutation
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N   +7 more
doaj   +2 more sources

X-Linked Adrenoleukodystrophy

Clinical Neurology and Neurosurgery, 1993
We report a unique case of a 43-year-old architect with adult-onset adrenoleukodystrophy who presented primarily with intellectual decline and no evidence of adrenal insufficiency. Serial MRIs taken over a number of months demonstrated the evolution of demyelination starting in the frontal white matter then shifting to the occipital white matter and ...
Raymond GV, Moser AB, Fatemi A.
europepmc   +4 more sources

X-linked adrenoleukodystrophy: current aspects of dietary therapy (narrative review)

Клинический разбор в общей медицине
X-linked adrenoleukodystrophy (X-ALD) is a rare genetically determined peroxisomal disorder caused by mutations in the ABCD1 gene, characterized by progressive accumulation of saturated very long-chain fatty acids (VLCFAs, C26:0) in cells.
Fatima Kh. Dzgoeva, Tatyana E. Borovik, Tatyana E. Borovik, Anastasiia N. Azovtseva, Natalia V. Silina, Sabina E. Mingacheva, Anastasiia V. Zuikova, Madina А. Chabieva   +7 more
doaj   +2 more sources

X-linked cerebral adrenoleukodystrophy

BMJ Case Reports, 2023
A man in his 30s presented with a 6-month history of progressive left face, arm and leg weakness. Medical history included epilepsy and vitamin B12 deficiency. Three maternal second degree relatives died before the age of 7 from various neurological disorders.
Weldrick, Cara Louise, Boers, Peter, Kiely, Patrick, O'Halloran, Liam   +3 more
openaire   +2 more sources

MRI in X-linked adrenoleukodystrophy [PDF]

Neurology, 2015
A 45-year-old man with no medical history presented with behavioral changes. He was withdrawn from his family and friends. Home and finances had fallen into disorder. He was disheveled and incontinent of urine and feces. He lacked insight into his cognitive decline. His skin was bronzed and the examination was notable only for upgoing plantar responses.
Saima, Siddiqui, Gauri, Pawar, Jeffery P, Hogg   +2 more
openaire   +2 more sources

Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions. [PDF]

J Child Neurol
Wright MA, Demmitt-Rice C, Van Haren KP, Lund TC, Eichler F, Bonkowsky JL.   +5 more
europepmc   +2 more sources

Mild phenotype in an adult male with X-linked adrenoleukodystrophy – case report [PDF]

, 2015
Key Clinical Message X-linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of ...
Jørum, Ellen, Wanders, Ronald J. A., Horn, Morten A., Mikaelsen, Karin B. M., Retterstøl, Lars, Ferdinandusse, Sacha, Tallaksen, Chantal M. E., Mellgren, Svein I.   +7 more
core   +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