A Novel SPASTSPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia
Joint Authors
Robbins, Nathaniel M.
Ozmore, Jillian R.
Winder, Thomas L.
Gonzalez-Alegre, Pedro
Bardakjian, Tanya M.
Source
Case Reports in Neurological Medicine
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-08-29
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Some causes of spastic paraplegia are treatable and many are not.
Diagnostic work-up to determine the etiology can be costly and invasive.
Here we report the case of a man with slowly progressive spastic paraparesis.
Using a multigene next-generation sequencing (NGS) panel, we identified a novel variant in the consensus splice site of the SPAST gene (exon 13, c.1536G>A, heterozygous), affecting codon 512 of the SPAST mRNA.
The observed variant segregated with the disease in four tested family members.
In this case, genetic confirmation obviated the need for additional testing such as MRI and lumbar puncture and helped the patient and his family understand his condition and prognosis.
We conclude with a brief discussion of the SPG4/SPAST gene and the role of multigene panels in the diagnosis and management of hereditary spastic paraplegia.
American Psychological Association (APA)
Robbins, Nathaniel M.& Ozmore, Jillian R.& Winder, Thomas L.& Gonzalez-Alegre, Pedro& Bardakjian, Tanya M.. 2020. A Novel SPASTSPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia. Case Reports in Neurological Medicine،Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1148948
Modern Language Association (MLA)
Robbins, Nathaniel M.…[et al.]. A Novel SPASTSPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia. Case Reports in Neurological Medicine No. 2020 (2020), pp.1-3.
https://search.emarefa.net/detail/BIM-1148948
American Medical Association (AMA)
Robbins, Nathaniel M.& Ozmore, Jillian R.& Winder, Thomas L.& Gonzalez-Alegre, Pedro& Bardakjian, Tanya M.. A Novel SPASTSPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia. Case Reports in Neurological Medicine. 2020. Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1148948
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148948