Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants
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Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants. / Toft, Anders; Birk, Steffen; Ballegaard, Martin; Dunø, Morten; Hjermind, Lena E; Nielsen, Jørgen E; Svenstrup, Kirsten.
I: Journal of Neurology, Bind 266, Nr. 3, 03.2019, s. 735-744.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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 - 2019/3
Y1 - 2019/3
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 - Adolescent
KW - Adult
KW - Carpal Tunnel Syndrome/etiology
KW - Child
KW - Female
KW - Humans
KW - Male
KW - Membrane Transport Proteins/genetics
KW - Middle Aged
KW - Neural Conduction/physiology
KW - Pedigree
KW - Phenotype
KW - Polyneuropathies/etiology
KW - Spastic Paraplegia, Hereditary/complications
KW - Young Adult
U2 - 10.1007/s00415-019-09196-1
DO - 10.1007/s00415-019-09196-1
M3 - Journal article
C2 - 30637453
VL - 266
SP - 735
EP - 744
JO - Deutsche Zeitschrift fur Nervenheilkunde
JF - Deutsche Zeitschrift fur Nervenheilkunde
SN - 0939-1517
IS - 3
ER -
ID: 235156118