Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2008 Jan;37(1):107-10.
doi: 10.1002/mus.20878.

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

Antonio García  1 , Chiara Criscuolo, Giuseppe de Michele, José Berciano
Affiliations
Case Reports

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

Antonio García et al. Muscle Nerve. 2008 Jan.

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources