Journal
JOURNAL OF CHILD NEUROLOGY
Volume 27, Issue 10, Pages 1348-1350Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073811435245
Keywords
spastic paraplegia 3A; neuropathy; amyotrophy; pes cavus
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Spastic paraplegia 3A is the second most common form of hereditary autosomal dominant spastic paraplegia. This form is mainly associated with an early age of onset and pure phenotype, although recently complicated forms were reported. We describe a patient carrying a new C>T P344S>CT mutation in exon 10 of the spastic paraplegia 3A gene with unusual, complicated, and extremely severe phenotype. At the last neurologic examination performed at 17 years of life, the patient disclosed spastic tetraparesis, sensorimotor axonal neuropathy, cognitive and cranial nerve impairment, mild pes cavus, and distal amyotrophy.
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