• C Scuderi, M Fichera, G Calabrese, M Elia, C Amato, M Savio, E Borgione, G A Vitello, and S A Musumeci.
• Unità Operativa di Malattie Neuromuscolari, IRCCS Oasi Maria SS, Troina, EN, Italy. cscuderi@oasi.en.it
• J. Neurol. Neurosurg. Psychiatr. 2009 Apr 1; 80 (4): 440-3.

BackgroundHereditary 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.MethodsClinical, genetical and neuroradiological investigations were carried out in a large family with autosomal dominant spastic paraparesis and in a sporadic case with spastic paraparesis.ResultsAdditional 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).ConclusionsSpastin 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.

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