Prevalence and phenotype of the c.1529C>T SPG 7 variant in adult‐onset cerebellar ataxia in Italy-Reference-Cited by-同舟云学术

Prevalence and phenotype of the c.1529C>T SPG 7 variant in adult‐onset cerebellar ataxia in Italy

Published:2018-09-03 Issue:1 Volume:26 Page:80-86
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Mancini C.¹,Giorgio E.¹,Rubegni A.²,Pradotto L.³,Bagnoli S.⁴,Rubino E.⁵,Prontera P.⁶,Cavalieri S.¹,Di Gregorio E.¹,Ferrero M.¹,Pozzi E.¹,Riberi E.¹,Ferrero P.⁵,Nigro P.⁷,Mauro A.⁸,Zibetti M.⁵^ORCID,Tessa A.²,Barghigiani M.²,Antenora A.⁹,Sirchia F.¹⁰,Piacentini S.⁴,Silvestri G.¹¹¹²^ORCID,De Michele G.⁹,Filla A.⁹,Orsi L.⁵,Santorelli F. M.²,Brusco A.¹¹³^ORCID

Affiliation:

1. Department of Medical Sciences University of Torino Turin Italy

2. Molecular Medicine IRCCS Fondazione Stella Maris Pisa Italy

3. Division of Neurology and Neurorehabilitation San Giuseppe Hospital IRCCS Istituto Auxologico Italiano Piancavallo Italy

4. Department of Neuroscience, Psychology, Drug Research and Child's Health University of Florence Florence Italy

5. Department of Neuroscience and Mental Health Città della Salute e della Scienza University Hospital Turin Italy

6. Medical Genetics Unit Hospital S. Maria della Misericordia Perugia Italy

7. Clinica Neurologica Azienda Ospedaliera – Università di Perugia Perugia Italy

8. Department of Neurosciences University of Torino Turin Italy

9. Department of Neurosciences Federico II University Naples Italy

10. Institute for Maternal and Child Health – IRCCS Burlo Garofolo Trieste Italy

11. Fondazione Policlinico Universitario IRCCS A. Gemelli Rome Italy

12. Università Cattolica del Sacro Cuore Rome Italy

13. Medical Genetics Unit Città della Salute e della Scienza Hospital Turin Italy

Funder

Fondazione Telethon

Fondazione Umberto Veronesi

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.13768

Reference28 articles.

1. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

2. The genetics of hereditary spastic paraplegia and implications for drug therapy

3. Reviewing the genetic causes of spastic-ataxias

4. Friedreich's ataxia presenting as adult-onset spastic paraparesis

5. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Spastic Paraplegia Type 7 (SPG7);Essentials of Cerebellum and Cerebellar Disorders;2023

2. Autosomal and X-Linked Degenerative Ataxias: From Genetics to Promising Therapeutics;Contemporary Clinical Neuroscience;2023

3. Ataxia in a Movement Disorders Outpatient Clinic: a Single-Center Experience in Turkey;The Cerebellum;2022-02-10

4. Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations;Journal of the Neurological Sciences;2021-10

5. NGS in Hereditary Ataxia: When Rare Becomes Frequent;International Journal of Molecular Sciences;2021-08-06