TY - JOUR
T1 - Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation
AU - Fusco, Carlo
AU - Frattini, Daniele
AU - Farnetti, Enrico
AU - Nicoli, Davide
AU - Casali, Bruno
AU - Giustina, Elvio Della
PY - 2012/10
Y1 - 2012/10
N2 - 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.
AB - 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.
KW - amyotrophy
KW - neuropathy
KW - pes cavus
KW - spastic paraplegia 3A
UR - http://www.scopus.com/inward/record.url?scp=84866861150&partnerID=8YFLogxK
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U2 - 10.1177/0883073811435245
DO - 10.1177/0883073811435245
M3 - Article
C2 - 22378671
AN - SCOPUS:84866861150
VL - 27
SP - 1348
EP - 1350
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 10
ER -