title: Extremely severe complicated spastic paraplegia 3A with neonatal onset.
abstract: BACKGROUND
  Spastic paraplegia 3A typically manifests in childhood as an uncomplicated form of hereditary spastic paraplegia with slow progression. Most affected individuals present with spasticity and weakness in the legs before the end of the first decade.
  
  
  METHODS
  We describe a 12-year-old boy with neonatal onset of extremely severe complicated spastic paraplegia 3A associated with a de novo c.1226G>A (p.G409D) mutation in ATL1, a gene which encodes atlatsin GTPase 1. He manifested general hypertonia and hypokinesia since the neonatal period and was initially diagnosed with cerebral palsy. He was never able to move without assistance because of severe spastic quadriplegia with distal dominant muscle weakness. He also developed with pseudobulbar palsy; his speech, chewing, and swallowing were severely impaired. Electrophysiological studies revealed severe diffuse axonal neuropathy.
  
  
  CONCLUSIONS
  Extremely severe complicated spastic paraplegia 3A can be caused by mutations in the linker or three-helix bundle of atlastin 1.
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan. Electronic address: yonekawa@ncnp.go.jp.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yonekawa
authors.affiliation: Department of Neurology, National Center Hospital, NCNP, Tokyo, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Oya
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Yujiro
authors.initials: Y
authors.lastname: Higuchi
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hashiguchi
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D019204:GTP-Binding Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009431:Neural Conduction / Q000235:genetics; D010264:Paraplegia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D019204:GTP-Binding Proteins
keywords: atlastin 1; axonal neuropathy; pseudobulbar palsy; spastic paraplegia