Results 71 to 80 of about 1,386 (146)

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

, 2015
Christoph Wiesinger,1 Florian S Eichler,2 Johannes Berger1 1Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria; 2Department for Neurology, Massachusetts General Hospital, Harvard ...
Eichler FS, Berger J, Wiesinger C
core  

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

Asymmetric Cerebral Lesion Pattern in X-linked Adrenoleukodystrophy

, 2006
X-linked adrenoleukodystrophy (X-ALD) is an inherited disease caused by peroxisomal dysfunction. X-ALD usually involves the cerebral white matter in an approximately symmetric way. We report a 10-year-old boy with the cerebral form of X-ALD who presented
Wang, Shuang, Wu, Ji-Min, Cheng, Yuan-Shen   +2 more
core   +1 more source

Childhood Cerebral X-Linked Adrenoleukodystrophy More Than 5 Years After Hematopoietic Cell Transplantation: The First Case From Serbia and Southeastern Europe

, 2010
We report the clinical course, brain magnetic resonance imaging (MRI), and proton magnetic resonance spectroscopy findings in a boy with childhood cerebral X-linked adrenoleukodystrophy whose neurological disease keeps progressing more than 5 years ...
Attilio M. Rovelli, Graziella Uziel, Ana Potic, Jelena Mladenovic, Dusko Kozic, Vedrana Milic-Rasic   +5 more
core   +1 more source

X-linked Adrenoleukodystrophy

, 2013
International audienceX-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and the most frequent peroxisomal disorder, with an estimated incidence of 1:17,000. This complex neurodegenerative disorder is characterized by a huge clinical
Trompier, Doriane, Savary, Stéphane
core  

X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism

, 2005
The neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD) is caused by ABCD1 mutations and characterized by very long-chain fatty acid (VLCFA) accumulation. Cholesterol-lowering normalized VLCFA in fibroblasts and plasma of X-ALD patients.
Žigman, Mihaela, Sonja Forss-Petter, Weinhofer, Isabelle, Isabelle Weinhofer, Markus Kunze, Forss-Petter, Sonja, Kunze, Markus, Berger, Johannes, Mihaela Žigman, Johannes Berger   +9 more
core   +1 more source

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification

Frontiers in Genetics
Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of
Xiaoxue Shi, Xiaoxue Shi, Xiaoxue Shi, Xuelin Qi, Xuelin Qi, Jinhua Zheng, Jinhua Zheng, Jinhua Zheng, Jianjun Ma, Jianjun Ma, Jianjun Ma, Dongsheng Li, Dongsheng Li, Dongsheng Li   +13 more
doaj   +1 more source

Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: Implications for X-linked adrenoleukodystrophy

Neurobiology of Disease, 2007
Defects of adrenoleukodystrophy protein (ALDP) lead to X-linked adrenoleukodystrophy (X-ALD), a disorder mainly affecting the nervous system white matter and the adrenal cortex.
Romana Höftberger, Markus Kunze, Isabelle Weinhofer, Fahmy Aboul-Enein, Till Voigtländer, Iris Oezen, Gabriele Amann, Hanno Bernheimer, Herbert Budka, Johannes Berger   +9 more
doaj   +1 more source

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report

Journal of International Medical Research
X-linked adrenoleukodystrophy is a rare peroxisomal disorder caused by mutations in ABCD1 , thereby resulting in impaired β-oxidation of very long-chain fatty acids.
Min Cheol Chang, Seoyon Yang
doaj   +1 more source

25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome

Nature Communications, 2016
The mechanism underlying neuroinflammation in X-linked adrenoleukodystrophy (ALD) is poorly understood. Here authors identify aberrant production of 25-hydroxycholesterol (25-HC) in ALD patient-derived cells, and show that 25-HC mediates ...
Jiho Jang, Sangjun Park, Hye Jin Hur, Hyun-Ju Cho, Inhwa Hwang, Yun Pyo Kang, Isak Im, Hyunji Lee, Eunju Lee, Wonsuk Yang, Hoon-Chul Kang, Sung Won Kwon, Je-Wook Yu, Dong-Wook Kim   +13 more
doaj   +1 more source