Article
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Molecular genetics and metabolism - 1 Mar 2025
Gavazzi Francesco, Charsar Brittany, Hamilton Eline, Erler Jacqueline A, Patel Virali, Woidill Sarah, Sevagamoorthy Anjana, Helman Guy, Schmidt Johanna, Pizzino Amy, Muirhead Kayla, Takanohashi Asako, Bonkowsky Joshua L, Meyerhoffer Kelsee, Simons Cas, Doi Hiroshi, Satoko Miyatake, Matsumoto Naomichi, Delgado Mauricio R, Sanchez-Castillo Meredith, Wang Jingming, de Carvalho Daniel Rocha, Tournev Ivailo, Chamova Teodora, Jordanova Albena, Clegg Nancy J, Nicita Francesco, Bertini Enrico, Teng Michelle, Williams Dan, Tonduti Davide, Houlden Henry, Stellingwerff Menno, Wassmer Evangeline, Garcia-Cazorla Angeles, Bernard Geneviève, Mirchi Amytice, Toutounchi Helia, Wolf Nicole I, van der Knaap Marjo S, Shults Justine, Adang Laura A, Vanderver Adeline L
Abstract excerpt
We establish the natural history of pediatric-onset TUBB4A-related leukodystrophy to improve clinical trial readiness through a medical record-based longitudinal study. An international cohort of 216 individuals with pediatric-onset TUBB4A-related leukodystrophy was included. Demographic information and medical events were extracted from medical records or publications. Retrospective scores (Gross Motor Function...
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