From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants DOI Creative Commons

Manon Degoutin,

Chloé Angelini, Claire Bar

et al.

European Journal of Neurology, Journal Year: 2024, Volume and Issue: 32(1)

Published: Dec. 27, 2024

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 very few descriptions literature patients carrying biallelic SPAST. Targeted Sanger sequencing, panel sequencing and exome were used identify genetic causes 9 from 6 unrelated families symptoms HSP or infantile neurodegenerative disorder. We describe 5 pure a variable age onset, mostly infancy, profound intellectual disability progressively worsening tetrapyramidal syndrome. The patients' parents, heterozygous carriers variants, included both asymptomatic classic forms SPG4. Biallelic may explain cases hereditary spastic paraplegia autosomal recessive inheritance. Furthermore, some also psychomotor regression an disorder, associated syndrome, new phenotype gene.

Language: Английский

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants DOI Creative Commons

Manon Degoutin,

Chloé Angelini, Claire Bar

et al.

European Journal of Neurology, Journal Year: 2024, Volume and Issue: 32(1)

Published: Dec. 27, 2024

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 very few descriptions literature patients carrying biallelic SPAST. Targeted Sanger sequencing, panel sequencing and exome were used identify genetic causes 9 from 6 unrelated families symptoms HSP or infantile neurodegenerative disorder. We describe 5 pure a variable age onset, mostly infancy, profound intellectual disability progressively worsening tetrapyramidal syndrome. The patients' parents, heterozygous carriers variants, included both asymptomatic classic forms SPG4. Biallelic may explain cases hereditary spastic paraplegia autosomal recessive inheritance. Furthermore, some also psychomotor regression an disorder, associated syndrome, new phenotype gene.

Language: Английский

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