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Muscle Nerve. 2008 Jan;37(1):107-10.

Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.

Author information

1
Service of Clinical Neurophysiology, Marqués de Valdecilla University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, University of Cantabria, 39008 Santander, Spain. nflgga@humv.es

Abstract

In order to characterize the electrodiagnostic features of autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) more fully, we report the clinical and neurophysiological findings in two patients from a Spanish pedigree with a homozygous missense point mutation in the SACS gene. Nerve conduction studies showed signs of both axonal and demyelinating neuropathy. In the upper-limb nerves, motor conduction velocity was intermediately slowed. Sensory nerve action potentials were attenuated or absent. In addition, slowed conduction in the central motor, somatosensory, and auditory brainstem pathways was observed, and masseter and blink reflexes were abnormal. As a whole, this constellation of electrophysiological findings helps in the diagnosis of ARSACS.

PMID:
17683082
DOI:
10.1002/mus.20878
[Indexed for MEDLINE]

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