Research Summary: January 2022

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


Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need

Traditional Chinese medicine for gait disturbance in adrenoleukodystrophy: A case report and review of literature

Vitamin D Status & Latitude Predict Brain Lesions in Adrenoleukodystrophy

Adrenoleukodystrophy National Registry Study


Alexander Disease

Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients

Alexander disease: models, mechanisms, and medicine

Type II Alexander disease with fragile X mental retardation 1 gene mutation

Metabolic Enzyme Alterations and Astrocyte Dysfunction in a Murine Model of Alexander Disease With Severe Reactive Gliosis

Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment

Teaching NeuroImage: Dorsal Medullary Lesions in Juvenile-Onset Alexander Disease



A novel heterozygous HTRA1 mutation in an Asian family with CADASIL-like disease


Canavan Disease

Passage Bio Announces Pipeline Expansion and Clinical Program Update

Myrtelle Announces Exclusive Worldwide Gene Therapy Licensing Agreement for Canavan Disease

Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt


Cockayne Syndrome

Four-stranded DNA structure interactions play role in ageing syndrome


GM2 gangliosidosis and Giant Axonal Neuropathy (GAN)

Taysha Gene Therapies Announces January 2022 Virtual Investor Events to Review Preliminary Clinical Data for TSHA-101 in GM2 Gangliosidosis and High Dose Cohort and Long-Term Clinical Data for TSHA-120 in Giant Axonal Neuropathy


Krabbe Disease

Gain Therapeutics Progresses Krabbe Disease Program and Provides Scientific Update


Leigh Syndrome

Diagnosing mitochondrial conditions: a WGS breakthrough



A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy

Alex - The Leukodystrophy Charity