Results 71 to 80 of about 19,093 (232)

X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

International Journal of Developmental Neuroscience, 2019
Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell‐ and tissue‐specific roles of lipid species in the context of experimental ...
Bela Turk, C. Theda, A. Fatemi, A. Moser
semanticscholar   +2 more sources

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

Loes Score: Clinical and Radiological Profile of 22 Patients of X-Linked Adrenoleukodystrophy: Case Series from a Single Center

Indian Journal of Radiology and Imaging, 2021
Introduction X-linked adrenoleukodystrophy (X-ALD) is a devastating disease with a wide spectrum of presentation ranging from asymptomatic to a rapidly progressive childhood cerebral form.
Somesh Kumar, Haseena Sait, Sunil K. Polipalli, Gaurav S. Pradhan, Sumit Pruthi, Seema Kapoor   +5 more
doaj   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
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
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

In vivo gene editing via homology-independent targeted integration for adrenoleukodystrophy treatment.

Molecular Therapy, 2021
Adrenoleukodystrophy (ALD) is caused by various pathogenic mutations in the X-linked ABCD1 gene, which lead to metabolically abnormal accumulations of very long-chain fatty acids in many organs.
Sung-Ah Hong, J. Seo, Soohyun Wi, E. S. Jung, Jihyeon Yu, Gue-Ho Hwang, Ji Hea Yu, Ahreum Baek, S. Park, Sangsu Bae, Sung-Rae Cho   +10 more
semanticscholar   +1 more source

Stem cell-transplantation therapy for adrenoleukodystrophy: current perspectives [PDF]

, 2017
Weston Miller Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA Abstract: Adrenoleukodystrophy (ALD) is a rare, X-linked peroxisomal disorder of impaired very long-chain fatty-acid ...
Miller W
core   +2 more sources

X-linked adrenoleukodystrophy: pathogenesis and treatment [PDF]

, 2014
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 gene and accumulate very long chain fatty acids in all tissues.
Engelen, Marc, Kemp, Stephan, Poll-The, Bwee-Tien   +2 more
core   +1 more source

A longitudinal analysis of early lesion growth in presymptomatic patients with cerebral adrenoleukodystrophy [PDF]

, 2021
BACKGROUND AND PURPOSE: Cerebral adrenoleukodystrophy is a devastating neurological disorder caused by mutations in the ABCD1 gene. Our aim was to model and compare the growth of early cerebral lesions from longitudinal MRIs obtained in presymptomatic ...
Eichler, F. S., Caruso, P. A., Musolino, P. L., Niogi, S. N., van de Stadt, S., Askin, G., Engelen, M., Mallack, E. J.   +7 more
core   +1 more source

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

JAMA Network Open, 2020
Key Points Question What is the analytical and clinical validity of a mass spectrometric method evaluating very long-chain fatty acyl-lysophosphatidylcholine species for the detection of X-linked adrenoleukodystrophy among newborns in North Carolina ...
Stacey Lee, K. Clinard, S. Young, C. Rehder, Zheng Fan, A. Calikoglu, Deeksha S. Bali, D. Bailey, Lisa M Gehtland, D. Millington, H. S. Patel, Sara E Beckloff, S. Zimmerman, C. Powell, Jennifer L Taylor   +14 more
semanticscholar   +1 more source

Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies

JCRPE, 2021
Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA), primarily in the adrenal cortex and central nervous system.
Michael R Ryalls, Hoong-Wei Gan, James E Davison   +2 more
doaj   +1 more source