title: Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.
abstract: OBJECTIVE
  Hereditary spastic paraparesis or paraplegias (HSPs) are a group of neurogenetic conditions with prominent involvement of the pyramidal tracts. Aim of this study is the clinical and molecular characterization of a cohort of patients with HSP. Moreover, we aim to study the minimum prevalence of HSP in our area and to propose a schematic diagnostic approach to HSP patients based on the available data from the literature.
  
  
  METHODS
  Retrospective/perspective study on the subjects with clinical signs and symptoms indicative of pure or complicated HSP, in whom other possible diagnosis were excluded by appropriate neuroradiological, neurophysiologic and laboratory studies, who have been evaluated by the Neurogenetic Service of our Clinic in last two years (2011-2012).
  
  
  RESULTS
  45 patients were identified. The minimum prevalence of HSP in our area was of about 2.17-3.43/100,000. The SF-36 (quality of life) and SPRS (disease progression) scores were inversely related; the time-saving, four-stage scale of motor disability could predict the SPRS scores with a high statistical significance, and we encourage its use in HSP. Our study confirms SPG4 as the major cause of HSP. All SPG4 patients had a pure HSP phenotype, and the dominant inheritance was evident in the great majority of these subjects. SPG7 was the second genetic cause. Other genotypes were rarer (SPG10, SPG11, SPG17).
  
  
  CONCLUSIONS
  Exact molecular diagnosis will allow a more accurate patient counseling and, hopefully, will lead to specific, targeted, therapeutic options for these chronic, still incurable diseases.
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa.
authors.forename: Daniele
authors.initials: D
authors.lastname: Orsucci
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa.
authors.forename: Loredana
authors.initials: L
authors.lastname: Petrucci
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa.
authors.forename: Elena Caldarazzo
authors.initials: EC
authors.lastname: Ienco
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa.
authors.forename: Lucia
authors.initials: L
authors.lastname: Chico
authors.affiliation: U.O. Laboratorio Genetica Medica, Santa Chiara Hospital, Pisa, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Simi
authors.affiliation: U.O. Laboratorio Genetica Medica, Santa Chiara Hospital, Pisa, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Fogli
authors.affiliation: U.O. Laboratorio Genetica Medica, Santa Chiara Hospital, Pisa, Italy.
authors.forename: Fulvia
authors.initials: F
authors.lastname: Baldinotti
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa.
authors.forename: Costanza
authors.initials: C
authors.lastname: Simoncini
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa.
authors.forename: Annalisa
authors.initials: A
authors.lastname: LoGerfo
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Carlesi
authors.affiliation: IRCCS E. Medea, Laboratory of Molecular Biology, Bosisio Parini Lecco, Italy.
authors.forename: Alessia
authors.initials: A
authors.lastname: Arnoldi
authors.affiliation: IRCCS E. Medea, Laboratory of Molecular Biology, Bosisio Parini Lecco, Italy.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Bassi
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa.
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Bonuccelli
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa. Electronic address: mancusomichelangelo@gmail.com.
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D000368:Aged; D015331:Cohort Studies; D018450:Disease Progression; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D011788:Quality of Life; D015419:Spastic Paraplegia, Hereditary / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D000074181:Spastin
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human
keywords: 4SMD; HSP; Hereditary spastic paraparesis; Hereditary spastic paraplegias; SPG; Strumpell-Lorrain