title: Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.
abstract: 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.
authors.affiliation: Unità Operativa di Malattie Neuromuscolari, IRCCS Oasi Maria SS, Troina, EN, Italy. cscuderi@oasi.en.it
authors.forename: C
authors.initials: C
authors.lastname: Scuderi
authors.forename: M
authors.initials: M
authors.lastname: Fichera
authors.forename: G
authors.initials: G
authors.lastname: Calabrese
authors.forename: M
authors.initials: M
authors.lastname: Elia
authors.forename: C
authors.initials: C
authors.lastname: Amato
authors.forename: M
authors.initials: M
authors.lastname: Savio
authors.forename: E
authors.initials: E
authors.lastname: Borgione
authors.forename: G A
authors.initials: GA
authors.lastname: Vitello
authors.forename: S A
authors.initials: SA
authors.lastname: Musumeci
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D003071:Cognition / Q000502:physiology; D003388:Cranial Fossa, Posterior / Q000002:abnormalities* / Q000473:pathology*; D003616:Dandy-Walker Syndrome / Q000235:genetics / Q000473:pathology; D004569:Electroencephalography; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009483:Neuropsychological Tests; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology* / Q000523:psychology; D000074181:Spastin; D055815:Young Adult
chemical_list: D003062:Codon; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human