Results 21 to 30 of about 4,338 (139)

Multiparametric in vivo analyses of the brain and spine identify structural and metabolic biomarkers in men with adrenomyeloneuropathy

NeuroImage: Clinical, 2021
Objective: Progressive myelopathy causes severe handicap in men with adrenomyeloneuropathy (AMN), an X-linked disorder due to ABCD1 pathogenic variants. At present, treatments are symptomatic but disease-modifying therapies are under evaluation.
Isaac M. Adanyeguh, Xiaofang Lou, Eavan McGovern, Marie-Pierre Luton, Magali Barbier, Elise Yazbeck, Romain Valabregue, Dinesh Deelchand, Pierre-Gilles Henry, Fanny Mochel   +9 more
doaj   +2 more sources

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece. [PDF]

Clin Genet
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Koutsis G, Chelban V, Kartanou C, Kontogeorgiou Z, Koniari C, Ragazos N, Voudommatis C, Zhelcheska K, Lynch DS, Maroofian R, Barkhordari E, Mohammad R, Zaganas I, Drakos M, Xiromerisiou G, Dardiotis E, Stefanis L, Panas M, Houlden H, Karadima G.   +19 more
europepmc   +2 more sources

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

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   +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,
Chao Wang, Hongchao Liu, Bing Han, Hui Zhu, Jingyao Liu   +4 more
doaj   +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

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans. [PDF]

Ann Neurol
Objective X‐linked adrenoleukodystrophy is caused by mutations in the peroxisomal half‐transporter ABCD1. The most common manifestation is adrenomyeloneuropathy, a hereditary spastic paraplegia of adulthood. The present study set out to understand the role of neuronal ABCD1 in mice and humans with adrenomyeloneuropathy.
Gong Y, Laheji F, Berenson A, Li Y, Moser A, Qian A, Frosch M, Sadjadi R, Hahn R, Maguire CA, Eichler F.   +10 more
europepmc   +2 more sources

Functional Characterization of IPSC-Derived Brain Cells as a Model for X-Linked Adrenoleukodystrophy. [PDF]

PLoS ONE, 2015
X-ALD is an inherited neurodegenerative disorder where mutations in the ABCD1 gene result in clinically diverse phenotypes: the fatal disorder of cerebral childhood ALD (cALD) or a milder disorder of adrenomyeloneuropathy (AMN).
Mauhamad Baarine, Mushfiquddin Khan, Avtar Singh, Inderjit Singh   +3 more
doaj   +1 more source

Clinical and Genetic Analysis of Adrenoleukodystrophy in Adults

罕见病研究, 2022
Objective Adrenoleukodystrophy (ALD) is the most common peroxisomal diseases with high clinical and genetic heterogeneity. Our study is to analyze the phenotype and genotype characteristics of adult patients with ALD. Methods A total of 18 adult patients
WANG Mengwen, WU Chujun, ZHANG Zaiqiang
doaj   +1 more source

CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy. [PDF]

PLoS ONE, 2012
X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD).
Mathieu Barbier, Audrey Sabbagh, Edwige Kasper, Muriel Asheuer, Ornella Ahouansou, Ingrid Pribill, Sonja Forss-Petter, Michel Vidaud, Johannes Berger, Patrick Aubourg   +9 more
doaj   +1 more source

Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy

Annals of Clinical and Translational Neurology, 2023
Objective Adrenoleukodystrophy (ALD) has a poor prognosis when it progresses to the cerebral form (CALD). The aim of this study is to investigate whether cerebrospinal fluid (CSF) neurofilament light chain (cNfL) is a sensitive biomarker for detecting ...
Toshiyuki Kakumoto, Takashi Matsukawa, Hiroyuki Ishiura, Harushi Mori, Shoji Tsuji, Tatsushi Toda   +5 more
doaj   +1 more source