Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

Published: 12/01/2019
Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants
Source: LINK.SPRINGER.COM

Abstract SPG31 is a hereditary spastic paraplegia (HSP) caused by pathogenic variants in the REEP1 gene. The phenotype (SPG31) has occasionally been described with peripheral nervous system involvement, in additional to the gradually progressing lower limb spasticity that characterizes HSP. The objective of this study was to characterize patients with pathogenic REEP1 variants and neurophysiologic

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