Infantile-onset ascending spastic paraplegia phenotype associated with SPAST mutation

J Neurol Sci. 2016 Dec 15:371:34-35. doi: 10.1016/j.jns.2016.10.017. Epub 2016 Oct 12.

Authors

Paulo Victor Sgobbi de Souza¹, Thiago Bortholin¹, Fernando George Monteiro Naylor¹, Wladimir Bocca Vieira de Rezende Pinto², Acary Souza Bulle Oliveira¹

Affiliations

¹ Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
² Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address: wladimirbvrpinto@gmail.com.

PMID: 27871443
DOI: 10.1016/j.jns.2016.10.017

No abstract available

Keywords: Hereditary spastic paraplegia; IAHSP; SPG4; Spasticity.

Publication types

Case Reports
Letter

MeSH terms

Adenosine Triphosphatases / genetics*
Adult
Brain / diagnostic imaging
Female
Humans
Mutation, Missense*
Phenotype
Spastic Paraplegia, Hereditary / diagnostic imaging
Spastic Paraplegia, Hereditary / genetics*
Spastic Paraplegia, Hereditary / physiopathology
Spastin

Substances

Adenosine Triphosphatases
Spastin
SPAST protein, human