Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is a distinct form
of hereditary early-onset spastic ataxia and is related to progressive degeneration
of the cerebellum and spinal cord [
[3]
]. People with ARSACS typically have abnormal tensing of the muscles (spasticity),
difficulty coordinating movements (ataxia), muscle wasting (amyotrophy), involuntary
eye movements (nystagmus), and speech difficulties (dysarthria).Keywords
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References
- Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.Am. J. Med. Genet. 1990; 37: 272-276
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.Parkinsonism Relat. Disord. 2011; 17: 418-422https://doi.org/10.1016/j.parkreldis.2011.03.005
- Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.Mov. Disord. 2013; 28: 2011-2014https://doi.org/10.1002/mds.25604
- A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.Am. J. Hum. Genet. 2009; 84: 72-79https://doi.org/10.1016/j.ajhg.2008.12.001
Article info
Publication history
Published online: June 24, 2015
Accepted:
June 23,
2015
Received in revised form:
June 22,
2015
Received:
April 12,
2015
Footnotes
☆All authors declare that they have no conflicts of interest in the present study.
Identification
Copyright
© 2015 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
