TY - JOUR
T1 - Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany
AU - Orsucci, Daniele
AU - Petrucci, Loredana
AU - Caldarazzo Ienco, Elena
AU - Chico, Lucia
AU - Simi, Paolo
AU - Fogli, Antonella
AU - Baldinotti, Fulvia
AU - Simoncini, Costanza
AU - Logerfo, Annalisa
AU - Carlesi, Cecilia
AU - Arnoldi, Alessia
AU - Bassi, Maria Teresa
AU - Siciliano, Gabriele
AU - Bonuccelli, Ubaldo
AU - Mancuso, Michelangelo
PY - 2014
Y1 - 2014
N2 - 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). Conclusion 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.
AB - 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). Conclusion 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.
KW - 4SMD
KW - Hereditary spastic paraparesis
KW - Hereditary spastic paraplegias
KW - HSP
KW - SPG
KW - Strumpell-Lorrain
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U2 - 10.1016/j.clineuro.2014.02.002
DO - 10.1016/j.clineuro.2014.02.002
M3 - Article
C2 - 24731568
AN - SCOPUS:84896755961
VL - 120
SP - 14
EP - 19
JO - Clinical Neurology and Neurosurgery
JF - Clinical Neurology and Neurosurgery
SN - 0303-8467
ER -