Autosomal recessive complex hereditary spastic paraplegia due to mutations in Spatacsin gene (Q99396): Difference between revisions

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Latest revision as of 16:03, 16 August 2026

Autosomal recessive spastic paraplegia caused by a mutation in the Spatacsin gene, a transmembrane protein that is phosphorylated upon DNA damage. Cause of spastic paraplegia type 11 (SPG 11) that is characterized by slow, gradual, progressive weakness and spasticity of the lower limbs.

Language	Label	Description	Also known as
default for all languages	ID_793405919
English	Autosomal recessive complex hereditary spastic paraplegia due to mutations in Spatacsin gene	Autosomal recessive spastic paraplegia caused by a mutation in the Spatacsin gene, a transmembrane protein that is phosphorylated upon DNA damage. Cause of spastic paraplegia type 11 (SPG 11) that is characterized by slow, gradual, progressive weakness and spasticity of the lower limbs.