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About 135 results

ALLMedicine™ Adrenomyeloneuropathy Center

Research & Reviews  50 results

Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression.
https://doi.org/10.1002/jimd.12457
Journal of Inherited Metabolic Disease; Keller JL, Eloyan A et. al.

Nov 20th, 2021 - Current outcomes used to evaluate adrenomyeloneuropathy are limited by rater bias, not sensitive to preclinical changes, and require years to decades to detect disease progression. Quantitative outcomes are needed that detect meaningful change in ...

Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia ...
https://doi.org/10.1016/j.parkreldis.2021.10.006
Parkinsonism & Related Disorders; Hsu SL, Chen YH et. al.

Oct 15th, 2021 - Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by mutations in the ABCD1 gene. The clinical manifestations of ALD vary widely with some patients presenting with adrenomyeloneuropathy (AMN) that resembles the phenotype of her...

Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
https://clinicaltrials.gov/ct2/show/NCT05008874

Aug 17th, 2021 - Progressive weakness and spasticity of the legs are characteristics of numerous disorders and conditions, including those that are inherited neurological disorders. Adrenomyeloneuropathy (AMN) is an example of an inherited form of spastic parapleg...

Cognitive Functions in Adult-Onset Phenotypes of X-Linked Adrenoleukodystrophy.
https://doi.org/10.1002/ana.26141
Annals of Neurology; Schäfer L, Roicke H et. al.

Jun 10th, 2021 - X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder characterized by progressive demyelination ranging from mild myelopathic forms (adrenomyeloneuropathy [AMN]) to severe cerebral variants (adult cerebral adrenoleukodystrophy [ACALD])...

Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7985512
Nature Communications; Weinhofer I, Rommer P et. al.

Mar 24th, 2021 - X-linked adrenoleukodystrophy (X-ALD), the most frequent monogenetic disorder of brain white matter, is highly variable, ranging from slowly progressive adrenomyeloneuropathy (AMN) to life-threatening inflammatory brain demyelination (CALD). In th...

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Clinicaltrials.gov  2 results

Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
https://clinicaltrials.gov/ct2/show/NCT05008874

Aug 17th, 2021 - Progressive weakness and spasticity of the legs are characteristics of numerous disorders and conditions, including those that are inherited neurological disorders. Adrenomyeloneuropathy (AMN) is an example of an inherited form of spastic parapleg...

SMART-ALD - A New Lifestyle Intervention to Improve Quality of Life in Women With X-linked Adrenoleukodystrophy (X-ALD)
https://clinicaltrials.gov/ct2/show/NCT04687007

Dec 30th, 2020 - X-linked Adrenoleukodystrophy (X-ALD) is one of the most frequent inborn error of metabolism caused by mutations in the ABCD1 gene, which codes for the transporter of saturated very long-chain fatty acids (VLCFA) for peroxisomal degradation, thus ...

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News  1 results

Gene Therapy May Benefit Patients With Cerebral ALD
https://www.mdedge.com/neurology/article/153999/rare-diseases/gene-therapy-may-benefit-patients-cerebral-ald

Dec 11th, 2017 - KANSAS CITY, MO—Lentiviral gene therapy halts inflammation and demyelination in patients with cerebral adrenoleukodystrophy (ALD), according to research presented at the 46th Annual Meeting of the Child Neurology Society and published in the New E.

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Patient Education  1 results see all →