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Muscle Nerve. 2014 Jan;49(1):131-3. doi: 10.1002/mus.24087. Epub 2013 Oct 25.

Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome.

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1
Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.

Abstract

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.

KEYWORDS:

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

PMID:
24123118
DOI:
10.1002/mus.24087
[Indexed for MEDLINE]
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