Results 1 to 10 of about 2,146 (124)

A Chinese X‐Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation—A Case Report and Literature Review [PDF]

Clinical Case Reports
X‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation ...
Fu‐Qing Zhang, Zhuoran Zhang, Dongliang Wang, Ying Yang, Xin Li   +4 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

Expanded Umbilical Cord Blood Transplantation in Cerebral X-Linked Adrenoleukodystrophy: A Case Report. [PDF]

EJHaem
ABSTRACT Umbilical cord blood transplantation is a viable source of stem cells due to accessibility and low incidence of chronic graft‐versus‐host disease despite human‐leukocyte‐antigen mismatching. Disadvantages of low stem cell dose in larger recipients include delayed immune reconstitution, graft rejection, and mortality.
Granberg RE, Pfeiffer T, Sansar S, Galindo R, Shenoy S.   +4 more
europepmc   +2 more sources

Inpatient Deaths in Pediatric Leukodystrophies [PDF]

Ann Child Neurol Soc
ABSTRACT Background and Objectives Leukodystrophies are neurogenetic diseases affecting the white matter of the central nervous system. The contributing factors for leukodystrophy mortality are incompletely understood. Our objectives were to characterize inpatient deaths of pediatric leukodystrophies, including demographics and risk factors.
Hart H, Vordos K, Flood C, Isakson D, Novoa A, Bonkowsky J.   +5 more
europepmc   +2 more sources

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

Ann Child Neurol Soc
ABSTRACT 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).
Winter E, Nagy A, Li Y, Rapalino O, Becker CL, Locascio J, Jaimes C, Eichler F.   +7 more
europepmc   +2 more sources

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy. [PDF]

Ann Clin Transl Neurol
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Yan C, Pierpont EI, Fine AS, Kartha RV.
europepmc   +2 more sources

MRI demyelination pattern and clinical course in a child with cerebral X-linked adrenoleukodystrophy (X-ALD)

Acta Radiologica Open, 2015
The clinical spectrum in boys with X-linked adrenoleukodystrophy (X-ALD) ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination.
Ulrike Löbel, Matthias Wölfl
exaly   +2 more sources

Fulminant Adrenal Crisis as the Initial Healthcare System Presentation of Adolescent Cerebral X-Linked Adrenoleukodystrophy. [PDF]

CNS Neurosci Ther
CNS Neuroscience &Therapeutics, Volume 32, Issue 4, April 2026.
Zhou J, Meng W, Zhao W, Shen C.
europepmc   +2 more sources

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
ABSTRACT Newborn screening (NBS) for X‐linked adrenoleukodystrophy (ALD) enables early identification of boys at risk for adrenal insufficiency (AI) and cerebral ALD (CALD). However, NBS frequently identifies ABCD1 variants of uncertain significance (VUS), which are associated with only borderline‐elevated C26:0‐lysophosphatidylcholine (LPC(26:0 ...
Lund TC, Miettunen K, Jaspers YRJ, Bergner C, Bonkowsky JL, Bruschi F, Cohen JS, Dijkstra IME, Eichler FS, Mallack EJ, Salomons GS, Thompson R, Tonduti D, van Haren KP, Wamelink MMC, Zerem A, Engelen M, Kemp S.   +17 more
europepmc   +2 more sources