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Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations
  1. C Scuderi1,
  2. M Fichera2,
  3. G Calabrese3,
  4. M Elia3,
  5. C Amato4,
  6. M Savio5,
  7. E Borgione1,
  8. G A Vitello6,
  9. S A Musumeci6
  1. 1
    Unità Operativa di Malattie Neuromuscolari, IRCCS Oasi Maria SS, Troina, Italy
  2. 2
    Laboratorio di Diagnosi Genetica, IRCCS Oasi Maria SS, Troina, Italy
  3. 3
    Unità Operativa di Neurologia e Neurofisiopatologia Clinica e Strumentale, Troina, Italy
  4. 4
    Unità Operativa di Neuroradiologia, IRCCS Oasi Maria SS, Troina, Italy
  5. 5
    Unità Operativa di Psicologia, IRCCS Oasi Maria SS, Troina, Italy
  6. 6
    Unità Operativa di Neurologia per il Ritardo Mentale, IRCCS Oasi Maria SS, Troina, Italy
  1. Dr C Scuderi, Unità Operativa di Malattie Neuromuscolari, IRCCS Oasi Maria SS, V. Conte Ruggero 73, 94018 Troina (EN), Italy; cscuderi{at}


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.

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  • 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

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  • Editorial commentary
    Bart P C van de Warrenburg