From Spastic Paraplegia to Infantile Neurodegenerative Disorder: Expanding the Phenotypic Spectrum Associated with Biallelic SPAST Variants
Manon Degoutin,Chloe Angelini,Claire Bar, Wahiba Amer El Khedoud,Christine Barnerias, Razika Boulariah-Hadjou,Mehrdad A. Estiar,Claire Ewenczyk,Ziv Gan-Or,Didier Lacombe,Claire Lefeuvre,Purvi Majethia, Mouna Messaoud-Khelifi,Dhanya Lakshmi Narayanan, Guy A. Rouleau,Oksana Suchowersky,Anju Shukla,Marine Guillaud-Bataille,Giovanni Stevanin,Cyril Goizet EUROPEAN JOURNAL OF NEUROLOGY（2025）
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homozygous,neurodegenerative disorder,SPAST,spastic paraplegia,SPG4
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