Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia

Auton Neurosci. 2014 Oct:185:141-3. doi: 10.1016/j.autneu.2014.06.001. Epub 2014 Jun 9.

Abstract

SPG3A, which is the second most common type of autosomal dominant hereditary spastic paraplegia (HSP), is caused by mutations in the atlastin GTPase 1 gene, ATL1. We report a case of a patient who presented as dysautonomia and had a novel splicing mutation c.35-3C>T in exon 2 of the ATL1. Orthostatic intolerance, urinary symptoms, hyperreflexia in the biceps and knee jerk, and decreased proprioception in both limbs were observed on neurological examinations. We tested the autonomic function and performed genetic tests for the SPG4 and SPG3A forms of HSP. This case is a genetically confirmed HSP with a novel mutation in SPG3A, and extends the phenotype of SPG3A.

Keywords: ATL1; Dysautonomia; Hereditary spastic paraplegia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Diagnosis, Differential
  • GTP-Binding Proteins / genetics*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation*
  • Pedigree
  • Primary Dysautonomias / diagnosis
  • Primary Dysautonomias / genetics*
  • Primary Dysautonomias / physiopathology*
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / physiopathology*

Substances

  • Membrane Proteins
  • ATL1 protein, human
  • GTP-Binding Proteins