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Article

Amplifying the spectrum of SPAST gene mutations.

Acta bio-medica : Atenei Parmensis - 18 Nov 2021

Verriello Lorenzo, Lonigro Incoronata Renata, Pessa Maria Elena, Betto Elena, Pauletto Giada, Fogolari Federico, Gigli Gian Luigi, Curcio Francesco

Abstract excerpt

Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative disorders characterized by slowly progressive spasticity and weakness of the lower extremities, caused by axon degeneration of corticospinal tracts. Spastic paraplegia type 4 (SPG4) is the most common autosomal dominant form of HSP and is caused by mutations in the SPAST gene. SPAST gene encodes for the protein spastin, a member of the...

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Identifiers

PMID: 35132972
DOI: 10.23750/abm.v92iS1.11608
PMCID: PMC10523053

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