Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany

详细信息    查看全文

• 作者：Daniele Orsucci^a ; Loredana Petrucci^a ; Elena Caldarazzo Ienco^a ; Lucia Chico^a ; Paolo Simi^c ; Antonella Fogli^c ; Fulvia Baldinotti^c ; Costanza Simoncini^a ; Annalisa LoGerfo^a ; Cecilia Carlesi^a ; Alessia Arnoldi^b ; Maria Teresa Bassi^b ; Gabriele Siciliano^a ; Ubaldo Bonuccelli^a ; Michelangelo Mancuso^a ; ^{mancusomichelangelo@gmail.com" class="auth_mail}
• 关键词：4SMD ; Hereditary spastic paraparesis ; Hereditary spastic paraplegias ; HSP ; SPG ; Strumpell-Lorrain
• 刊名：Clinical Neurology and Neurosurgery
• 出版年：May, 2014
• 年：2014
• 卷：120
• 期：Complete
• 页码：14-19
• 全文大小：568 K

文摘

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.