Research summary of recent leukodystrophy research and clinical trials, includes article summaries and direct links to websites and articles.
Adrenoleukodystrophy (ALD)
Stem cell transplantation for paediatric patients with adrenoleukodystrophy: A nationwide retrospective analysis in Japan
https://pubmed.ncbi.nlm.nih.gov/34661325/
The clinical spectrum of X-linked adrenoleukodystrophy: from Addison’s-only in men to middle-age neurologic manifestations in women
https://link.springer.com/article/10.1007/s42000-021-00325-y
Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study
https://link.springer.com/article/10.1007%2Fs10072-020-04576-2
Adrenoleukodystrophy (ALD) & Zellweger Syndrome
Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry
https://pubmed.ncbi.nlm.nih.gov/34704420/
Adrenomyeloneuropathy (AMN)
Adrenomyeloneuropathy with cerebral involvement due to a novel frameshift variant in ABCD1 gene
http://koreascience.or.kr/article/JAKO202122161995648.page
Alexander Disease
Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488758/
Area Postrema Syndrome as the Initial Presentation of Alexander Disease
https://pubmed.ncbi.nlm.nih.gov/34233935/
Neuropsychological Functioning in Alexander Disease: A Case Series
https://pubmed.ncbi.nlm.nih.gov/34692893/
Alexander Disease: Short Case Report
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8533653/
Alexander Disease: Clinical Aspects Review
https://www.ncbi.nlm.nih.gov/books/NBK1172/
GM1 Gangliosidosis
Sio Gene Therapies Announces Granting of FDA Fast Track Designation for Investigational AXO-AAV-GM1 (AAV9-GLB1) Gene Therapy in Patients with GM1 Gangliosidosis