Korean J Neuromuscul Disord.
2021 Jun;13(1):4-10. 10.46518/kjnmd.2021.13.1.4.
Diagnostic Approach to the Suspected Cases of Hereditary Spastic Paraplegia
- Affiliations
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- 1Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea
- 2Department of Neurology, Seoul National University Hospital, Seoul, Korea
- 3Department of Neurology, Seoul National University College of Medicine, Seoul, Korea
- KMID: 2518421
- DOI: http://doi.org/10.46518/kjnmd.2021.13.1.4
Abstract
- Hereditary spastic paraplegia (HSP) is a heterogeneous group of monogenic neurodegenerative disorders characterized by progressive spasticity of the lower limbs. The clinical features and imaging abnormalities vary greatly according to the affected genes. HSP is classified clinically as pure and complex forms, depending upon the presence or absence of additional neurological defects other than spastic lower limbs. Despite the recent advances in next-generation sequencing technology and its wide availability, a genetic diagnosis of HSP is still not made in more than half of all suspected cases of HSP. In this review, we summarized the various phenotypes of relatively common HSP in clinical practice according to the inheritance pattern, highlighting their clinical, radiological, and neurophysiological features. We further discussed the practical approach to patients with suspected HSP in the current era of next-generation sequencing.
