Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation

Carlo Fusco, Daniele Frattini, Enrico Farnetti, Davide Nicoli, Bruno Casali, Elvio Della Giustina

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1348-1350
Number of pages3
JournalJournal of Child Neurology
Volume27
Issue number10
DOIs
Publication statusPublished - Oct 2012

Fingerprint

Hereditary Spastic Paraplegia
Phenotype
Mutation
Muscle Spasticity
Cranial Nerves
Neurologic Examination
Age of Onset
Genes
Exons
Autosomal dominant Spastic paraplegia 3
Talipes Cavus

Keywords

  • amyotrophy
  • neuropathy
  • pes cavus
  • spastic paraplegia 3A

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation. / Fusco, Carlo; Frattini, Daniele; Farnetti, Enrico; Nicoli, Davide; Casali, Bruno; Giustina, Elvio Della.

In: Journal of Child Neurology, Vol. 27, No. 10, 10.2012, p. 1348-1350.

Research output: Contribution to journalArticle

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