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Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

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@article{faf3c4527515463bb140390a1499817a,
title = "Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants",
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 neurophysiologically assess the extent of peripheral nerve involvement in this patient group. Thirty-eight index cases were molecular-genetically tested, yielding two previously reported pathogenic REEP1 variants and a novel missense variant, in a total of four index patients. Three of four probands and five additional family members underwent nerve conduction studies, electromyography, quantitative sensory testing, and examination of the autonomic nervous system. None of the examined patients had completely unremarkable results of peripheral nerve studies. Most showed electrophysiological signs of carpal tunnel syndrome, and one patient demonstrated a multifocal compression neuropathy. Autonomic testing revealed no severe dysfunction, and findings were limited to adrenergic function. HSP caused by pathogenic REEP1 variants may be accompanied by a generally mild and subclinical polyneuropathy with a predisposition to compression neuropathy, and should be considered in such cases.",
keywords = "Carpal tunnel syndrome, Hereditary spastic paraplegia, Nerve conduction studies, Polyneuropathy, REEP1, SPG31, Humans, Middle Aged, Male, Carpal Tunnel Syndrome/etiology, Spastic Paraplegia, Hereditary/complications, Membrane Transport Proteins/genetics, Neural Conduction/physiology, Young Adult, Phenotype, Pedigree, Adolescent, Adult, Female, Polyneuropathies/etiology, Child",
author = "Anders Toft and Steffen Birk and Martin Ballegaard and Morten Dun{\o} and Hjermind, {Lena E} and Nielsen, {J{\o}rgen E} and Kirsten Svenstrup",
year = "2019",
doi = "10.1007/s00415-019-09196-1",
language = "English",
volume = "266",
pages = "735--744",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "Dr. Dietrich/Steinkopff Verlag",
number = "3",

}

RIS

TY - JOUR

T1 - Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

AU - Toft, Anders

AU - Birk, Steffen

AU - Ballegaard, Martin

AU - Dunø, Morten

AU - Hjermind, Lena E

AU - Nielsen, Jørgen E

AU - Svenstrup, Kirsten

PY - 2019

Y1 - 2019

N2 - 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 neurophysiologically assess the extent of peripheral nerve involvement in this patient group. Thirty-eight index cases were molecular-genetically tested, yielding two previously reported pathogenic REEP1 variants and a novel missense variant, in a total of four index patients. Three of four probands and five additional family members underwent nerve conduction studies, electromyography, quantitative sensory testing, and examination of the autonomic nervous system. None of the examined patients had completely unremarkable results of peripheral nerve studies. Most showed electrophysiological signs of carpal tunnel syndrome, and one patient demonstrated a multifocal compression neuropathy. Autonomic testing revealed no severe dysfunction, and findings were limited to adrenergic function. HSP caused by pathogenic REEP1 variants may be accompanied by a generally mild and subclinical polyneuropathy with a predisposition to compression neuropathy, and should be considered in such cases.

AB - 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 neurophysiologically assess the extent of peripheral nerve involvement in this patient group. Thirty-eight index cases were molecular-genetically tested, yielding two previously reported pathogenic REEP1 variants and a novel missense variant, in a total of four index patients. Three of four probands and five additional family members underwent nerve conduction studies, electromyography, quantitative sensory testing, and examination of the autonomic nervous system. None of the examined patients had completely unremarkable results of peripheral nerve studies. Most showed electrophysiological signs of carpal tunnel syndrome, and one patient demonstrated a multifocal compression neuropathy. Autonomic testing revealed no severe dysfunction, and findings were limited to adrenergic function. HSP caused by pathogenic REEP1 variants may be accompanied by a generally mild and subclinical polyneuropathy with a predisposition to compression neuropathy, and should be considered in such cases.

KW - Carpal tunnel syndrome

KW - Hereditary spastic paraplegia

KW - Nerve conduction studies

KW - Polyneuropathy

KW - REEP1

KW - SPG31

KW - Humans

KW - Middle Aged

KW - Male

KW - Carpal Tunnel Syndrome/etiology

KW - Spastic Paraplegia, Hereditary/complications

KW - Membrane Transport Proteins/genetics

KW - Neural Conduction/physiology

KW - Young Adult

KW - Phenotype

KW - Pedigree

KW - Adolescent

KW - Adult

KW - Female

KW - Polyneuropathies/etiology

KW - Child

UR - http://www.scopus.com/inward/record.url?scp=85060041944&partnerID=8YFLogxK

U2 - 10.1007/s00415-019-09196-1

DO - 10.1007/s00415-019-09196-1

M3 - Journal article

VL - 266

SP - 735

EP - 744

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 3

ER -

ID: 56392228