Background: Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic hereditary paraparesis. However, in this disease also other signs of central nervous system involvement are frequently found.
Methods: Clinical, genetical and neuroradiological investigations were carried out in a large family with autosomal dominant spastic paraparesis and in a sporadic case with spastic paraparesis.
Results: Additional clinical and molecular data are provided, studying other members of the same pedigree, as already described, with a five-base deletion in exon 9 of the SPG4 gene (1215–1219delTATAA) whose members show MRI anomalies that fall within the Dandy–Walker continuum. Furthermore, an unrelated female patient with hypoplasia of the cerebellar vermis is indicated, carrying a de novo previously reported mutation of the SPG4 gene (c.1741C>T p.R581X).
Conclusions: Spastin may play an important role in the development of the central nervous system and in particular in the development of the structures of posterior fossa.
Statistics from Altmetric.com
Competing interests: None.
Ethics approval: Ethics approval was provided by the Ethics Committee IRCCS Associazione Oasi Maria SS.
Patient consent: Obtained.
See Editorial Commentary, p 357