Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families-Reference-Cited by-同舟云学术

Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families

Published:2021-03-26 Issue:2 Volume:35 Page:84-94
ISSN:0167-7063
Container-title:Journal of Neurogenetics
language:en
Short-container-title:Journal of Neurogenetics

Author:

Pashaei Mahdieh¹,Davarzani Atefeh¹,Hajati Reza¹,Zamani Babak²,Nafissi Shahriar³^ORCID,Larti Farzaneh¹,Nilipour Yalda⁴,Rohani Mohammad⁵,Alavi Afagh¹^ORCID

Affiliation:

1. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran

2. Neurology Department, Firoozgar hospital, Iran University of Medical Sciences, Tehran, Iran

3. Department of Neurology, Shariati Hospital., Tehran University of Medical Sciences, Tehran, Iran

4. Pediatric Pathology Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran

5. Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran

Funder

The National Institute for Medical Research Development

University of Social Welfare and Rehabilitation Sciences

Publisher

Informa UK Limited

Subject

Cellular and Molecular Neuroscience,Genetics

Link

https://www.tandfonline.com/doi/pdf/10.1080/01677063.2021.1895146

Reference48 articles.

1. Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

2. White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

3. Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia

4. Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

5. Update on the Genetics of Spastic Paraplegias

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