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©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature
Xue-Wen Xiao, Juan Du, Bin Jiao, Xin-Xin Liao, Lu Zhou, Xi-Xi Liu, Zhen-Hua Yuan, Li-Na Guo, Xin Wang, Lu Shen, Zhang-Yuan Lin
Xue-Wen Xiao, Juan Du, Bin Jiao, Lu Zhou, Xi-Xi Liu, Zhen-Hua Yuan, Li-Na Guo, Xin Wang, Lu Shen, Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan Province, China
Juan Du, Bin Jiao, Lu Shen, Zhang-Yuan Lin, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, Hunan Province, China
Bin Jiao, Lu Shen, Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, Hunan Province, China
Xin-Xin Liao, Department of Geriatrics Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan Province, China
Lu Shen, Key Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan Province, Changsha 410008, Hunan Province, China
Zhang-Yuan Lin, Department of Orthopedics, Xiangya Hospital, Central South University, Changsha 410008, Hunan Province, China
Author contributions: Xiao XW reported the case and drafted manuscript; Du J, Jiao B, Liao XX and Zhou L studied the HSP family; Liu XX, Yuan ZH, Guo LN, Wang X and Shen L reviewed the relevant literatures; Lin ZY reviewed the literatures and revised the manuscript
Supported by National Natural Science Foundation of China, No. 81171068.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Zhang-Yuan Lin, MD, PhD, Surgeon, Department of Orthopedics, Xiangya Hospital, Central South University, No. 87 Xiangya Rd., Kaifu District, Changsha 410008, Hunan Province, China.
linzhangyuan2505@sina.com
Telephone: +86-731-84327623 Fax: +86-731-84327332
Received: February 2, 2019
Peer-review started: February 11, 2019
First decision: March 9, 2019
Revised: March 23, 2019
Accepted: April 9, 2019
Article in press: April 9, 2019
Published online: June 6, 2019
Processing time: 127 Days and 6.6 Hours
BACKGROUND
Hereditary spastic paraplegias (HSPs) refer to a group of heterogeneous neurodegenerative diseases characterized by lower limbs spasticity and weakness. So far, over 72 genes have been found to cause HSP (SPG1-SPG72). Among autosomal dominant HSP patients, spastic paraplegia 4 (SPG4/SPAST) gene is the most common pathogenic gene, and atlastin-1 (ATL1) is the second most common one. Here we reported a novel ATL1 mutation in a Chinese spastic paraplegia 3A (SPG3A) family, which expands the clinical and genetic spectrum of ATL1 mutations.
CASE SUMMARY
A 9-year-old boy with progressive spastic paraplegia accompanied by right hearing loss and mental retardation for five years was admitted to our hospital. Past history was unremarkable. The family history was positive, and his grandfather and mother had similar symptoms. Neurological examinations revealed hypermyotonia in his lower limbs, hyperreflexia in knee reflex, bilateral positive Babinski signs and scissors gait. The results of blood routine test, liver function test, blood glucose test, ceruloplasmin test and vitamin test were all normal. The serum lactic acid level was significantly increased. The testing for brainstem auditory evoked potential demonstrated that the right side hearing was impaired while the left was normal. Magnetic resonance imaging showed mild atrophy of the spinal cord. The gene panel test revealed that the proband carried an ATL1 c.752A>G p.Gln251Arg (p.Q251R) mutation, and Sanger sequencing confirmed the existence of family co-segregation.
CONCLUSION
We reported a novel ATL1 Q251R mutation and a novel clinical phenotype of hearing loss in a Chinese SPG3A family.
Core tip: Hereditary spastic paraplegias are a group of genetically and clinically heterogeneous neurodegenerative diseases characterized by lower limbs spasticity and weakness. Here we reported a novel ATL1 Q251R mutation predicted to be pathogenic and a novel clinical phenotype of hearing loss in a Chinese SPG3A family, which expands the clinical and genetic spectrum of ATL1 mutations.
