## Abstract Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early‐onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We repor
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Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay
✍ Scribed by Antonio García; Chiara Criscuolo; Giuseppe de Michele; José Berciano
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 181 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0148-639X
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severe pulmonary and intestinal disease including ileus at birth and liver cirrhosis at the age 5 years, whereas the other one developed much better with only mild pulmonary changes. Clinical follow-up evaluation of our patient, a 5-year-old girl, was evocative of an intermediary status. Diagnosis o