OBJECTIVE: To identify peripheral nerve abnormalities in hereditary spastic paraplegia (HSP) due to mutations in the spastin gene (spastic paraplegia 4, SPG4) using standard nerve conduction (NCS) and novel tests of axonal excitability. METHODS: Eleven patients with known mutations in spastin were assessed with NCS for the upper and lower limbs, and axonal excitability testing on the median nerve. RESULTS: Standard nerve conduction studies revealed a sensorimotor neuropathy in two patients. Excitability studies on median motor axons showed an isolated abnormality (increased strength-duration time constant), but those on sensory axons were normal in nine patients with normal routine nerve conduction studies. CONCLUSIONS: Peripheral neuropathy occurs in HSP patients with SPG4 mutations, but axonal excitability studies provide limited additional evidence for subclinical peripheral nerve dysfunction, and add little further to standard nerve conduction studies. SIGNIFICANCE: The features of HSP due to SPG4 mutations include sensorimotor polyneuropathy. The value of excitability studies is limited in individual patients.
OBJECTIVE: To identify peripheral nerve abnormalities in hereditary spastic paraplegia (HSP) due to mutations in the spastin gene (spastic paraplegia 4, SPG4) using standard nerve conduction (NCS) and novel tests of axonal excitability. METHODS: Eleven patients with known mutations in spastin were assessed with NCS for the upper and lower limbs, and axonal excitability testing on the median nerve. RESULTS: Standard nerve conduction studies revealed a sensorimotor neuropathy in two patients. Excitability studies on median motor axons showed an isolated abnormality (increased strength-duration time constant), but those on sensory axons were normal in nine patients with normal routine nerve conduction studies. CONCLUSIONS:Peripheral neuropathy occurs in HSP patients with SPG4 mutations, but axonal excitability studies provide limited additional evidence for subclinical peripheral nerve dysfunction, and add little further to standard nerve conduction studies. SIGNIFICANCE: The features of HSP due to SPG4 mutations include sensorimotor polyneuropathy. The value of excitability studies is limited in individual patients.
Authors: Nyamkhishig Sambuughin; Lev G Goldfarb; Tatiana M Sivtseva; Tatiana K Davydova; Vsevolod A Vladimirtsev; Vladimir L Osakovskiy; Al'bina P Danilova; Raisa S Nikitina; Anastasia N Ylakhova; Margarita P Diachkovskaya; Anna C Sundborger; Neil M Renwick; Fyodor A Platonov; Jenny E Hinshaw; Camilo Toro Journal: BMC Neurol Date: 2015-10-30 Impact factor: 2.474
Authors: Fumihiro Watanabe; William D Arnold; Robert E Hammer; Odelia Ghodsizadeh; Harmeet Moti; Mackenzie Schumer; Ahmed Hashmi; Anthony Hernandez; Amita Sneh; Zarife Sahenk; Yaz Y Kisanuki Journal: J Neuropathol Exp Neurol Date: 2013-11 Impact factor: 3.685
Authors: Viorica Chelban; Arianna Tucci; David S Lynch; James M Polke; Liana Santos; Hallgeir Jonvik; Stanislav Groppa; Nicholas W Wood; Henry Houlden Journal: J Neurol Neurosurg Psychiatry Date: 2017-06-01 Impact factor: 10.154