Results 31 to 40 of about 1,447 (169)

Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy

Orphanet Journal of Rare Diseases, 2021
Objective To characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to evaluate any sex differences in symptom presentation.
Camille S. Corre, Natalie Grant, Reza Sadjadi, Douglas Hayden, Catherine Becker, Pablo Gomery, Florian S. Eichler   +6 more
doaj   +1 more source

A historical look using virtual microscopy: the first case report of adrenomyeloneuropathy (AMN)

Free Neuropathology, 2023
The history of adrenoleukodystrophy (ALD), adrenomyeloneuropathy (AMN) and other peroxisomal diseases is exemplary for the stunning progress of scientific medicine within the past 50 years.
Herbert Budka
doaj   +1 more source

Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN)

Stem Cell Research, 2017
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene.
Daryeon Son, Zhejiu Quan, Phil Jun Kang, Gyuman Park, Hoon-Chul Kang, Seungkwon You   +5 more
doaj   +1 more source

Retinal neurovascular alterations are associated with optic radiation microstructure in adrenomyeloneuropathy: A susceptibility separation MRI study

VIEW, EarlyView.
In a cross‐sectional cohort of 104 participants, 7 T susceptibility separation MRI and diffusion imaging were combined with retinal imaging and visual evoked potentials to characterize visual pathway involvement in adrenomyeloneuropathy (AMN). Absolute diamagnetic susceptibility, a myelin‐associated measure, and fractional anisotropy (FA) showed ...
Ronghao Li, Jun Li, Chongyi Li, Xingang Wang, Wenyu Zhou, Yangcheng Zou, Zhiming Zhen, Li Xiao, Na Liang, Zongxing Zou, Junru Yang, Hui Yang, Chunhua Fu, Weiqi Chen, Yuyu Chen, Chen Liu, Hongjiang Wei, Liang Tan   +17 more
wiley   +1 more source

Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

BMC Neurology, 2012
Background Adrenomyeloneuropathy (AMN) is one of several phenotypes of the adrenoleukodystrophy spectrum caused by mutations in the ABCD1 gene on the X chromosome. An inflammatory component is part of the disease complex ranging from severe childhood CNS
Jønch Aia, Danielsen Else, Thomsen Carsten, Meden Per, Svenstrup Kirsten, Nielsen Jørgen   +5 more
doaj   +1 more source

Clinical Presentation and Early Outcomes of Congenital Endocrine Salt‐Wasting Syndromes Unrelated to 21‐Hydroxylase Deficiency

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 4, July 2026.
Early‐onset endocrine salt‐wasting syndromes unrelated to 21‐hydroxylase deficiency overlap markedly at presentation, limiting etiological distinction. In this 20‐patient cohort, disease‐specific patterns emerged during follow‐up, while growth was generally preserved and initial biochemical severity was not associated with later treatment burden or ...
Vittorio Ferrari, Valentina Assirelli, Emma Bonaguri, Giovanni Silva, Rita Ortolano, Federico Baronio, Marcello Lanari, Antonio Balsamo   +7 more
wiley   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, Volume 109, Issue 5, Page 837-846, May 2026.
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.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Adrenomyeloneuropathy [PDF]

Journal of Neuropathology & Experimental Neurology, 2000
The neuropathologic features of adrenomyeloneuropathy (AMN) are reviewed by supplementing those few previously published cases with 5 additional cases collected over the years. The endocrine involvement in AMN is briefly presented to serve as a pathogenetic backdrop and to emphasize that most of the lesions in AMN, as in adreno-leukodystrophy (ALD ...
J M, Powers, D P, DeCiero, M, Ito, A B, Moser, H W, Moser   +4 more
openaire   +2 more sources

Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X‐Linked Adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is a rare monogenic disorder characterized by marked variability in clinical presentation, age at onset, and disease progression. A deeper understanding of its natural history and the relationship between biochemical markers and clinical phenotypes is essential for improving disease monitoring, patient ...
Julia Lier, Markus Ponleitner, Denny Popp, Lisa Schäfer, Franziska Küstermann, Christof Meigen, Frank Kratzer, Joachim Janda, Jürgen Okun, Rami Abou Jamra, Wolfgang Köhler, Caroline Bergner   +11 more
wiley   +1 more source

An Automated Analysis Tool for Diffusion Tensor Imaging‐Based Quantitative MRI in X‐Linked Adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is caused by ABCD1 pathogenic variants, leading to accumulation of very long‐chain fatty acids (VLCFAs). Phenotypes include cerebral ALD (CALD) and adrenomyeloneuropathy (AMN). We assessed if quantitative MRI (qMRI) parameters from an automated tool (BrainQuant) could differentiate CALD from non‐CALD and ...
Eda G. Kabak, Fenna van Dodewaard, Stefan D. Roosendaal, Hemmo A. F. Yska, Marije M. C. Voermans, Marine Bourgeais, Vincent Perlbarg, Marc Engelen   +7 more
wiley   +1 more source