Fusco Carlo, Frattini Daniele, Farnetti Enrico, Nicoli Davide, Casali Bruno, Della Giustina Elvio
Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, Viale Risorgimento 80, Reggio Emilia, Italy.
J Child Neurol. 2012 Oct;27(10):1348-50. doi: 10.1177/0883073811435245. Epub 2012 Feb 28.
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.
痉挛性截瘫3A型是遗传性常染色体显性痉挛性截瘫的第二常见类型。这种类型主要与发病年龄早和纯合表型相关，不过最近也有复杂型的报道。我们描述了一名患者，其痉挛性截瘫3A基因第10外显子携带新的C>T P344S>CT突变，具有不寻常、复杂且极其严重的表型。在该患者17岁时进行的最后一次神经学检查中，发现其存在痉挛性四肢轻瘫、感觉运动轴索性神经病、认知和颅神经损害、轻度高弓足以及远端肌萎缩。
