Results 1 to 10 of about 1,447 (169)

Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children [PDF]

Annals of the Child Neurology Society
Purpose X‐linked adrenoleukodystrophy (ALD) encompasses a wide range of neurological manifestations, classically described as distinct phenotypes including childhood cerebral adrenoleukodystrophy and adult‐onset adrenomyeloneuropathy (AMN). Corticospinal
Elle Winter, Amanda Nagy, Yedda Li, Otto Rapalino, Catherine L. Becker, Joseph Locascio, Camilo Jaimes, Florian Eichler   +7 more
doaj   +3 more sources

Functional electrical stimulation to aid walking in patients with adrenomyeloneuropathy: A case study and observational series

JIMD Reports, 2022
Adrenomyeloneuropathy (AMN) is a rare inherited condition where affected individuals develop slowly progressive spastic paraparesis with a gradual decline in walking ability. There is no cure for AMN and treatment focuses on supportive measures and aids.
Robin Lachmann, Valerie L Stevenson, Elaine Murphy   +2 more
exaly   +2 more sources

MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity

JIMD Reports, 2022
Adrenomyeloneuropathy (AMN), the slow progressive phenotype of adrenoleukodystrophy (ALD), has no clinical plasma biomarker for disease progression. This feasibility study aimed to determine whether metabolomics and micro‐RNA in blood plasma provide a ...
Jaspreet Singh, Ann B. Moser, Ali Fatemi
exaly   +2 more sources

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

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   +2 more sources

A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family

Brain and Behavior, 2019
Background Adrenomyeloneuropathy (AMN) is a rare genetic disease. In this study, a case of AMN was uncovered in a Chinese family. Methods Clinical manifestations were collected and observed through medical records, physical examination, laboratory tests,
Jingyao Liu, Bing Han
exaly   +2 more sources

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

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   +2 more sources

Intrathecal administration of mesenchymal stem cells in patients with adrenomyeloneuropathy [PDF]

Frontiers in Neurology
Background and objectivesX-linked adrenomyeloneuropathy (AMN) is an inherited neurodegenerative disorder associated with mutations in the ABCD1 gene and the accumulation of very long-chain fatty acids (VLFCAs) in plasma and tissues.
Tomasz Siwek, Tomasz Siwek, Beata Zwiernik, Beata Zwiernik, Katarzyna Jezierska-Woźniak, Kamila Jezierska, Marcin P. Mycko, Marcin P. Mycko, Krzysztof W. Selmaj, Krzysztof W. Selmaj   +9 more
doaj   +2 more sources

In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy [PDF]

Human Genome Variation
Adrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in ABCD1, exhibits a broad range of phenotypes from childhood-onset cerebral forms to adult-onset adrenomyeloneuropathy (AMN). We report a rare in-frame ABCD1 deletion c.
Takashi Matsukawa, Atsushi Sudo, Toshiyuki Kakumoto, Akihito Hao, Mitsuhiro Kainaga, Hyangri Chang, Tatsuo Mano, Hiroyuki Ishiura, Jun Mitsui, Toshihiro Hayashi, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda   +12 more
doaj   +2 more sources

Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report [PDF]

Journal of Medical Case Reports
Background This article presents a case study of two white male siblings of 24 and 31 years of age of self-reported Ukrainian ethnicity diagnosed with adrenomyeloneuropathy (AMN) associated with a novel splice site mutation in the ABCD1 gene.
Khrystyna Shchubelka, Olga Herasymenko, Andrii Budzyn, Oleksandr Lysytsia, Anastasiia Rusyn, Olga Oleksyk, Svitlana Tynta, Taras Oleksyk   +7 more
doaj   +2 more sources

Living with adrenoleukodystrophy: adult patient and caregiver perspectives [PDF]

Orphanet Journal of Rare Diseases
Introduction Adrenoleukodystrophy (ALD) is a rare, X-linked disease caused by pathogenic ABCD1 gene variants, resulting in heterogeneous and debilitating conditions.
Amena Smith Fine, Kathleen O’ Sullivan-Fortin, Kelly Miettunen, Felicity Emerson, Reza Sadjadi, Ali Fatemi, Florian Eichler   +6 more
doaj   +2 more sources