Research Summary: November 2021

Research summary of recent leukodystrophy research and clinical trials, includes titles and direct links to websites and articles.

Aicardi-Goutières Syndrome

Improper Z-RNA recognition contributes to pathogenesis of Aicardi-Goutières syndrome

https://www.news-medical.net/news/20211021/Improper-Z-RNA-recognition-contributes-to-pathogenesis-of-Aicardi-Goutieres-syndrome.aspx

 

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

https://finance.yahoo.com/news/sio-gene-therapies-announces-granting-120000153.html?guccounter=1

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