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Open Access 01-12-2013 | Research

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)

Authors: Kathrin N Karle, Rebecca Schüle, Stephan Klebe, Susanne Otto, Christian Frischholz, Inga Liepelt-Scarfone, Ludger Schöls

Published in: Orphanet Journal of Rare Diseases | Issue 1/2013

Abstract

Background

Hereditary spastic paraplegias (HSPs) are characterised by lower limb spasticity due to degeneration of the corticospinal tract. We set out for an electrophysiological characterisation of motor and sensory tracts in patients with HSP.

Methods

We clinically and electrophysiologically examined a cohort of 128 patients with genetically confirmed or clinically probable HSP. Motor evoked potentials (MEPs) to arms and legs, somato-sensory evoked potentials of median and tibial nerves, and nerve conduction studies of tibial, ulnar, sural, and radial nerves were assessed.

Results

Whereas all patients showed clinical signs of spastic paraparesis, MEPs were normal in 27% of patients and revealed a broad spectrum with axonal or demyelinating features in the others. This heterogeneity can at least in part be explained by different underlying genotypes, hinting for distinct pathomechanisms in HSP subtypes. In the largest subgroup, SPG4, an axonal type of damage was evident. Comprehensive electrophysiological testing disclosed a more widespread affection of long fibre tracts involving peripheral nerves and the sensory system in 40%, respectively. Electrophysiological abnormalities correlated with the severity of clinical symptoms.

Conclusions

Whereas HSP is primarily considered as an upper motoneuron disorder, our data suggest a more widespread affection of motor and sensory tracts in the central and peripheral nervous system as a common finding in HSP. The distribution patterns of electrophysiological abnormalities were associated with distinct HSP genotypes and could reflect different underlying pathomechanisms. Electrophysiological measures are independent of symptomatic treatment and may therefore serve as a reliable biomarker in upcoming HSP trials.

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Title: Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)
Authors: Kathrin N Karle
Rebecca Schüle
Stephan Klebe
Susanne Otto
Christian Frischholz
Inga Liepelt-Scarfone
Ludger Schöls
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2013
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-8-158

At a glance: The STEP trials

Springer Medicine

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)

Abstract

Background

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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