Results 1 to 10 of about 4,338 (139)

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

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   +4 more sources

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

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   +5 more sources

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 [PDF]

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.
William Goodison, Fred Baron, Coralie Seary, Elaine Murphy, Robin Lachmann, Valerie L. Stevenson   +5 more
doaj   +3 more sources

Adrenomyeloneuropathy (AMN): myelinopathy or axonopathy? [PDF]

Free Neuropathology, 2023
Herbert Budka
doaj   +4 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   +3 more sources

Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort. [PDF]

J Clin Lab Anal
Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Blas SM, Pujalte SP, Álvarez AM, Ríos AIÁ, Cabello BM, Moreno CN, Gila ALG, Fuentes ED, Moreno EV, Pecellín CD.   +9 more
europepmc   +2 more sources

Longitudinal Clinical Progression in X‐Linked Adrenoleukodystrophy: The AMNL Scoring System [PDF]

Ann Child Neurol Soc
ABSTRACT Objective The current clinical nomenclature for individuals with ABCD1 gene dysfunction is often uninformative. The disorder was initially described as a combination of adrenal insufficiency and leukodystrophy, leading to the widespread use of “X‐linked adrenoleukodystrophy” (ALD).
Kabak E, Videbaek C, Voermans M, van Geel B, van Haren K, Kemp S, van de Beek D, Engelen M.   +7 more
europepmc   +2 more sources

Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
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 ...
Lier J, Ponleitner M, Popp D, Schäfer L, Küstermann F, Meigen C, Kratzer F, Janda J, Okun J, Jamra RA, Köhler W, Bergner C.   +11 more
europepmc   +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