1. Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family

Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family

Almundher Al-Maawali, MD 1 Prof. Arndt Rolfs, MD 2 Grace Yoon, MD 3 Michael Klingenhaeger, PhD
1 Boston Children's Hospital 2 CENTOGENE AG 3 University of Toronto
March 01, 2011

J Clin Neuromusc Dis 2011;12:143–146

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. This expands the spectrum of neurologic complications associated with SPG3A and highlights the importance of long-term follow-up and neurological surveillance in this patient population.