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Korean Journal of Neuromuscular Disorders ; 13 : 1 - 7, June 2021 |
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Diagnostic Approach to the Suspected Cases of Hereditary Spastic Paraplegia |
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Seok-Jin Choi, MD1,2, Jung-Joon Sung, MD, PhD2,3 |
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1 Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea 2 Department of Neurology, Seoul National University Hospital, Seoul, Korea 3 Department of Neurology, Seoul National University College of Medicine, Seoul, Korea |
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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. |
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