Article
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
European journal of neurology - 1 Jan 2025
Degoutin Manon, Angelini Chloé, Bar Claire, El Khedoud Wahiba Amer, Barnerias Christine, Boulariah-Hadjou Razika, Estiar Mehrdad A, Ewenczyk Claire, Gan-Or Ziv, Lacombe Didier, Lefeuvre Claire, Majethia Purvi, Messaoud-Khelifi Mouna, Narayanan Dhanya Lakshmi, Rouleau Guy A, Suchowersky Oksana, Shukla Anju, Guillaud-Bataille Marine, Stevanin Giovanni, Goizet Cyril
Abstract excerpt
PURPOSE: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST. METHODS: Targeted Sanger sequencing, panel sequencing and exome...
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