Electrophysiological characterisation in hereditary spastic paraplegia type 5.
OBJECTIVE
To assess in SPG5 hereditary spastic paraparesis (HSP) the involvement of the central (CNS) and the peripheral (PNS) nervous system by a multimodal electrophysiological approach.


METHODS
Four patients belonging to three HSP families, with a molecular diagnosis of SPG5, underwent electrophysiological evaluation including electromyography (EMG) and nerve conduction study (NCS), motor-evoked potentials (MEPs) by transcranial magnetic stimulation (TMS) and somatosensory evoked potentials (SEPs) at upper and lower limbs, visual (VEPs) and brainstem auditory evoked potentials (BAEPs). In one patient, electrophysiological evaluation was performed twice at the age of 12 and 31 years.


RESULTS
EMG and NCS were normal. MEPs and SEPs were abnormal in all patients along the central pathway for upper and/or lower limbs. VEPs revealed a damage of visual pathway and BAEPs showed the involvement of auditory pathway within the brainstem. In the patient who underwent electrophysiological follow-up, MEP and SEP findings were unmodified, whereas VEPs showed no reproducible responses.


CONCLUSIONS
We report an extensive electrophysiological evaluation of SPG5 and we confirm that the SPG5 phenotype may be broader than pure presentation.


CONCLUSIONS
Electrophysiological evaluation, showing diffuse CNS involvement with PNS sparing, could be very useful to address the molecular diagnosis and to follow-up a hypothetical treatment.
Department of Neurological Sciences, University Federico II of Naples, Naples, Italy.
Fiore
F
Manganelli
Chiara
C
Pisciotta
Raffaele
R
Dubbioso
Rosa
R
Iodice
Chiara
C
Criscuolo
Lucia
L
Ruggiero
Giuseppe
G
De Michele
Lucio
L
Santoro
D000328:Adult; D017668:Age of Onset; D002490:Central Nervous System / Q000503:physiopathology; D002648:Child; D004576:Electromyography; D055724:Electrophysiological Phenomena; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D019054:Evoked Potentials, Motor / Q000502:physiology; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D007839:Functional Laterality / Q000502:physiology; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000502:physiology; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology; D018482:Muscle, Skeletal / Q000502:physiology; D009431:Neural Conduction / Q000502:physiology; D017933:Peripheral Nervous System / Q000503:physiopathology; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology*