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. SIGNIFICANCE: 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.
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. SIGNIFICANCE: 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.
Authors: Federica Ginanneschi; Maria A Carluccio; Andrea Mignarri; Alessandra Tessa; Filippo M Santorelli; Alessandro Rossi; Antonio Federico; Maria T Dotti Journal: Neurol Sci Date: 2014-03-20 Impact factor: 3.307
Authors: Spyridon Theofilopoulos; William J Griffiths; Peter J Crick; Shanzheng Yang; Anna Meljon; Michael Ogundare; Satish Srinivas Kitambi; Andrew Lockhart; Karin Tuschl; Peter T Clayton; Andrew A Morris; Adelaida Martinez; M Ashwin Reddy; Andrea Martinuzzi; Maria T Bassi; Akira Honda; Tatsuki Mizuochi; Akihiko Kimura; Hiroshi Nittono; Giuseppe De Michele; Rosa Carbone; Chiara Criscuolo; Joyce L Yau; Jonathan R Seckl; Rebecca Schüle; Ludger Schöls; Andreas W Sailer; Jens Kuhle; Matthew J Fraidakis; Jan-Åke Gustafsson; Knut R Steffensen; Ingemar Björkhem; Patrik Ernfors; Jan Sjövall; Ernest Arenas; Yuqin Wang Journal: J Clin Invest Date: 2014-10-01 Impact factor: 14.808
Authors: J Antczak; J Pera; M Dąbroś; W Koźmiński; M Czyżycki; K Wężyk; M Dwojak; M Banach; A Slowik Journal: Neural Plast Date: 2019-05-12 Impact factor: 3.599