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Case ReportCase Report
Open Access

Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene

Shakya Bhattacharjee, Nicholas Beauchamp, Brian E. Murray and Timothy Lynch
Neurosciences Journal October 2017, 22 (4) 303-307; DOI: https://doi.org/10.17712/nsj.2017.4.20170253
Shakya Bhattacharjee
From the Department of Neurology (Bhattacharjee), from Plymouth Hospital NHS Trust, Department of Neurology (Bhattacharjee), Plymouth Hospital NHS Trust, from Sheffield Diagnostic Genetics Service (Beauchamp), Sheffield Children’s NHS Foundation Trust, Sheffield, United Kingdom, and from Hermitage Medical Clinic (Murray), Mater University Hospital and Dublin Neurological Institute (Lynch), Dublin, Ireland
MBBS, MRCP
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  • For correspondence: [email protected]
Nicholas Beauchamp
From the Department of Neurology (Bhattacharjee), from Plymouth Hospital NHS Trust, Department of Neurology (Bhattacharjee), Plymouth Hospital NHS Trust, from Sheffield Diagnostic Genetics Service (Beauchamp), Sheffield Children’s NHS Foundation Trust, Sheffield, United Kingdom, and from Hermitage Medical Clinic (Murray), Mater University Hospital and Dublin Neurological Institute (Lynch), Dublin, Ireland
PhD
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Brian E. Murray
From the Department of Neurology (Bhattacharjee), from Plymouth Hospital NHS Trust, Department of Neurology (Bhattacharjee), Plymouth Hospital NHS Trust, from Sheffield Diagnostic Genetics Service (Beauchamp), Sheffield Children’s NHS Foundation Trust, Sheffield, United Kingdom, and from Hermitage Medical Clinic (Murray), Mater University Hospital and Dublin Neurological Institute (Lynch), Dublin, Ireland
ABPN, AANEM
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Timothy Lynch
From the Department of Neurology (Bhattacharjee), from Plymouth Hospital NHS Trust, Department of Neurology (Bhattacharjee), Plymouth Hospital NHS Trust, from Sheffield Diagnostic Genetics Service (Beauchamp), Sheffield Children’s NHS Foundation Trust, Sheffield, United Kingdom, and from Hermitage Medical Clinic (Murray), Mater University Hospital and Dublin Neurological Institute (Lynch), Dublin, Ireland
FRCP, ABPN
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Article Information

vol. 22 no. 4 303-307
DOI 
https://doi.org/10.17712/nsj.2017.4.20170253
PubMed 
29057857

Published By 
Neurosciences Journal
Online ISSN 
1658-3183
History 
  • Received May 28, 2017
  • Accepted August 4, 2017
  • Published online November 13, 2020.

Copyright & Usage 
Copyright: © Neurosciences Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.

Author Information

  1. Shakya Bhattacharjee, MBBS, MRCP⇑,
  2. Nicholas Beauchamp, PhD,
  3. Brian E. Murray, ABPN, AANEM and
  4. Timothy Lynch, FRCP, ABPN
  1. From the Department of Neurology (Bhattacharjee), from Plymouth Hospital NHS Trust, Department of Neurology (Bhattacharjee), Plymouth Hospital NHS Trust, from Sheffield Diagnostic Genetics Service (Beauchamp), Sheffield Children’s NHS Foundation Trust, Sheffield, United Kingdom, and from Hermitage Medical Clinic (Murray), Mater University Hospital and Dublin Neurological Institute (Lynch), Dublin, Ireland
  1. Address correspondence and reprint request to: Dr Shakya Bhattacharjee, Department of Neurology, Plymouth Hospital NHS Trust, Plymbridge Lane, United Kingdom. E-mail: bubai.shakya{at}gmail.com ORCID ID: orcid.org/0000-0002-8493-3013
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Cited By...

  • 5 Citations
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This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.

  • Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients
    Maryam Erfanian Omidvar, Shahram Torkamandi, Somaye Rezaei, Behnam Alipoor, Mir Davood Omrani, Hossein Darvish, Hamid Ghaedi
    Journal of Neurology 2021 268 6
  • Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort
    Petya Bogdanova-Mihaylova, Hongying Chen, Helena Maria Plapp, Ciara Gorman, Michael D. Alexander, John C. McHugh, Sharon Moran, Anne Early, Lorraine Cassidy, Timothy Lynch, Sinéad M. Murphy, Richard A. Walsh
    Journal of Neurology 2021 268 10
  • Common forms of hereditary spastic paraplegias
    G. E. Rudenskaya, V. A. Kadnikova, O. P. Ryzhkova
    Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 2019 119 2
  • Autosomal recessive spastic paraplegias types 7 and 76
    Galina E. Rudenskaya, Varvara A. Kadnikova, Oksana P. Ryzhkova, Nina A. Dyomina, Inna V. Sharkova, Alexander V. Polyakov
    Annals of Clinical and Experimental Neurology 2021 15 2
  • A Rare Cause of Ataxia: SPG7 Mutation
    Afra Çelik, Banu Özen Barut, Rahsan İnan
    Turkish Journal Of Neurology 2022 28 3
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Neurosciences Journal: 22 (4)
Neurosciences Journal
Vol. 22, Issue 4
1 Oct 2017
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Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene
Shakya Bhattacharjee, Nicholas Beauchamp, Brian E. Murray, Timothy Lynch
Neurosciences Journal Oct 2017, 22 (4) 303-307; DOI: 10.17712/nsj.2017.4.20170253

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Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene
Shakya Bhattacharjee, Nicholas Beauchamp, Brian E. Murray, Timothy Lynch
Neurosciences Journal Oct 2017, 22 (4) 303-307; DOI: 10.17712/nsj.2017.4.20170253
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© 2025 Neurosciences Journal Neurosciences is copyright under the Berne Convention and the International Copyright Convention. All rights reserved. Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3183. Print ISSN 1319-6138.

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