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Article

A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform.

BMC biology - 9 Jul 2008

Mancuso Giuseppe, Rugarli Elena I

Abstract excerpt

BACKGROUND: Mutations in SPG4 cause the most common form of autosomal dominant hereditary spastic paraplegia, a neurodegenerative disease characterized by weakness and spasticity of the lower limbs due to degeneration of the corticospinal tract. SPG4 encodes spastin, a microtubule-severing ATPase belonging to the AAA family. Two isoforms of spastin, 68 and 60 kDa, respectively, are variably abundant in tissues,...

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Identifiers

PMID: 18613979
DOI: 10.1186/1741-7007-6-31
PMCID: PMC2474578

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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