Author(s): Rolfs, Prof. Arndt, MD, Al-Maawali, Almundher, MD, Klingenhaeger, Michael, PhD, Yoon, Grace, MD
We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia. Read more!
Spastic paraplegia Type 3A is an autosomal-dominant pure or uncomplicated hereditary spastic paraplegia. It is caused by mutations in SPG3A, the only gene associated with this condition. We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia.
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