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


Adrenoleukodystrophy (ALD)

Stem cell transplantation for paediatric patients with adrenoleukodystrophy: A nationwide retrospective analysis in Japan

The clinical spectrum of X-linked adrenoleukodystrophy: from Addison’s-only in men to middle-age neurologic manifestations in women

Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study


Adrenoleukodystrophy (ALD) & Zellweger Syndrome

Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry


Adrenomyeloneuropathy (AMN)

Adrenomyeloneuropathy with cerebral involvement due to a novel frameshift variant in ABCD1 gene


Alexander Disease

Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease

Area Postrema Syndrome as the Initial Presentation of Alexander Disease

Neuropsychological Functioning in Alexander Disease: A Case Series

Alexander Disease: Short Case Report

Alexander Disease: Clinical Aspects Review


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

Alex - The Leukodystrophy Charity