NERVE CONDUCTION STUDIES IN SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (SPOAN) SYNDROME

作者：Amorim Simone^*; Heise Carlos Otto; Santos Silvana; Macedo Souza Lucia Ines; Zatz Mayana; Kok Fernando

来源：Muscle & Nerve, 2014, 49(1): 131-133.

DOI：10.1002/mus.24087

• axonal neuropathy
• nerve conduction
• recessive genes
• spastic paraplegia
• SPOAN

Introduction: SPOAN (spastic paraplegia, optic atrophy, and neuropathy) syndrome is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family. Methods: Twenty-seven patients with SPOAN syndrome (20 women), aged 4-58 years, underwent nerve conduction studies (NCS) of the median, ulnar, tibial, and fibular nerves, and sensory NCS of the median, ulnar, radial, sural, and superficial fibular nerves. Results: Sensory nerve action potentials were absent in the lower limbs and absent in >80% of upper limbs. Motor NCS had reduced amplitudes and borderline velocities in the upper limbs and absent compound muscle action potentials (CMAPs) in the lower limbs. Conclusions: The neuropathy in SPOAN syndrome is a severe, early-onset sensory-motor axonal polyneuropathy. Normal NCS seem to rule-out this condition. Muscle Nerve49: 131-133, 2014

• 出版日期2014-1