Results 41 to 50 of about 13,975 (131)

Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan

International Journal of Neonatal Screening, 2021
We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyses ...
Nobuyuki Shimozawa, Shigeo Takashima, Hiroki Kawai, Kazuo Kubota, Hideo Sasai, Kenji Orii, Megumi Ogawa, Hidenori Ohnishi   +7 more
doaj   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy

Annals of Movement Disorders, 2019
X-linked adrenoleukodystrophy (X-ALD) is a pan-ethnic disorder and affects approximately 1:20,000 males (Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy.
Sindhu D Mallikarjuna, Sadanandavalli R Chandra, Hansashree Padmanabha, Rita Christopher   +3 more
doaj   +1 more source

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

Cells, 2022
The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding transporter for very-long-chain fatty acids.
Eric J. Mallack, Kerry Gao, Marc Engelen, Stephan Kemp   +3 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

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 ...
Bela Rui Turk, Laila Marie Poisson, Christina Linnea Nemeth, Jordan Goodman, Ann B. Moser, Richard Owen Jones, Ali Fatemi, Jaspreet Singh   +7 more
doaj   +1 more source

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences

International Journal of Neonatal Screening
X-linked adrenoleukodystrophy (ALD) is a rare metabolic disorder. Symptoms range from cerebral demyelination (cALD) to adrenal insufficiency and slowly progressive myeloneuropathy.
Cecilie S. Videbæk, Sabine W. Grønborg, Allan M. Lund, Mette L. Olesen   +3 more
doaj   +1 more source

Evaluation of Neurofilament Light Chain as a Biomarker of Neurodegeneration in X-Linked Childhood Cerebral Adrenoleukodystrophy

Cells, 2022
Cerebral adrenoleukodystrophy (CALD) is a devastating, demyelinating neuroinflammatory manifestation found in up to 40% of young males with an inherited mutation in ABCD1, the causative gene in adrenoleukodystrophy.
Hongge Wang, Matthew D. Davison, Martin L. Kramer, Weiliang Qiu, Tatiana Gladysheva, Ruby M. S. Chiang, Can Kayatekin, David R. Nascene, Leyla A. Taghizadeh, Carina J. King, Erin E. Nolan, Ashish O. Gupta, Paul J. Orchard, Troy C. Lund   +13 more
doaj   +1 more source

Prospective Study of Targeted Busulfan–Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases

European Journal of Haematology, EarlyView.
ABSTRACT Objectives Genetic rare diseases (GRDs), including chronic granulomatous disease, familial hemophagocytic lymphohistiocytosis, and congenital neutropenia, often require hematopoietic stem cell transplantation (HSCT) as the only curative option.
Bo Kyung Kim, Kyung Taek Hong, Jung Yoon Choi, Hyun Jin Park, Kyung‐Sang Yu, In‐Jin Jang, Hyoung Jin Kang   +6 more
wiley   +1 more source