TY  - JOUR
A1  - Karle, Kathrin N.
A1  - Schüle, Rebecca
A1  - Klebe, Stephan
A1  - Otto, Susanne
A1  - Frischholz, Christian
A1  - Liepelt-Scarfone, Inga
A1  - Schöls, Ludger
T1  - Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)
JF  - Orphanet Journal of Rare Diseases
N2  - 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.
KW  - motor evoked potential (MEP)
KW  - amyotrophic-lateral-sclerosis
KW  - somatosensory-evoked-potentials
KW  - Silver-syndrome
KW  - gene mutations
KW  - SPG4
KW  - mouse model
KW  - ALSIN gene
KW  - neuropathy
KW  - paraparesis
KW  - protein
KW  - electrophysiology
KW  - hereditary spastic paraplegia (HSP)
Y1  - 2013
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-124763
SN  - 1750-1172
VL  - 8
IS  - 158
ER  - 
TY  - JOUR
A1  - Cruccu, Giorgio
A1  - Pennisi, Elena M.
A1  - Antonini, Giovanni
A1  - Biasiotta, Antonella
A1  - Di Stefano, Giulia
A1  - La Cesa, Silvia
A1  - Leone, Caterina
A1  - Raffa, Salvatore
A1  - Sommer, Claudia
A1  - Truini, Andrea
T1  - Trigeminal isolated sensory neuropathy (TISN) and FOSMN syndrome: despite a dissimilar disease course do they share common pathophysiological mechanisms?
JF  - BMC Neurology
N2  - Background: Patients presenting with bilateral trigeminal hypoesthesia may go on to have trigeminal isolated sensory neuropathy, a benign, purely trigeminal neuropathy, or facial-onset sensory motor neuronopathy (FOSMN), a malignant life-threatening condition. No diagnostic criteria can yet differentiate the two conditions at their onset. Nor is it clear whether the two diseases are distinct entities or share common pathophysiological mechanisms. 
Methods: Seeking pathophysiological and diagnostic information to distinguish these two conditions at their onset, in this neurophysiological and morphometric study we neurophysiologically assessed function in myelinated and unmyelinated fibres and histologically examined supraorbital nerve biopsy specimens with optic and electron microscopy in 13 consecutive patients with recent onset trigeminal hypoesthesia and pain. 
Results: The disease course distinctly differed in the 13 patients. During a mean 10 year follow-up whereas in eight patients the disease remained relatively stable, in the other five it progressed to possibly life-threatening motor disturbances and extra-trigeminal spread. From two to six years elapsed between the first sensory symptoms and the onset of motor disorders. In patients with trigeminal isolated sensory neuropathy (TISN) and in those with FOSMN neurophysiological and histological examination documented a neuronopathy manifesting with trigeminal nerve damage selectively affecting myelinated fibres, but sparing the Ia-fibre-mediated proprioceptive reflex. 
Conclusions: Although no clinical diagnostic criteria can distinguish the two conditions at onset, neurophysiological and nerve-biopsy findings specify that in both disorders trigeminal nerve damage manifests as a dissociated neuronopathy affecting myelinated and sparing unmyelinated fibres, thus suggesting similar pathophysiological mechanisms.
KW  - amyotrophic-lateral-sclerosis
KW  - atrophy Kennedys-disease
KW  - trigeminal nerve
KW  - neuronopathy
KW  - trigeminal neuropathy
KW  - FOSMN
KW  - facial pain
KW  - Sjorgens-syndrome
KW  - reflex
KW  - afferents
KW  - neuralgia
KW  - pathways
KW  - humans
KW  - fibers
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-114249
SN  - 1471-2377
VL  - 14
ER  -