Article
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.
Clinical genetics - 1 Dec 2022
Sanchez Marco Silvia Beatriz, Buhl Edgar, Firth Rose, Zhu Bangfu, Gainsborough Mary, Beleza-Meireles Ana, Moore Sandra, Caswell Richard, Stals Karen, Ellard Sian, Kennedy Cameron, Hodge James J L, Majumdar Anirban
Abstract excerpt
Cerebral palsy (CP) causes neurological disability in early childhood. Hypoxic-ischaemic injury plays a major role in its aetiology, nevertheless, genetic and epigenetic factors may contribute to the clinical presentation. Mutations in ADD3 (encoding γ-adducin) gene have been described in a monogenic form of spastic quadriplegic cerebral palsy (OMIM 601568). We studied a 16-year-old male with spastic diplegia....
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