Journal of Neurology

, Volume 260, Issue 3, pp 869–875 | Cite as

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

  • S. T. de Bot
  • J. H. Veldink
  • S. Vermeer
  • A. R. Mensenkamp
  • F. Brugman
  • H. Scheffer
  • L. H. van den Berg
  • H. P. H. Kremer
  • E. J. Kamsteeg
  • B. P. van de Warrenburg
Original Communication

Abstract

SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs.

Keywords

Hereditary Spastic Paraplegia ATL1 REEP1 Sporadic Upper motor neuron disease Genetic screening 

Supplementary material

415_2012_6723_MOESM1_ESM.doc (53 kb)
Supplementary material 1 (DOC 53 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • S. T. de Bot
    • 1
  • J. H. Veldink
    • 2
  • S. Vermeer
    • 3
  • A. R. Mensenkamp
    • 3
  • F. Brugman
    • 4
  • H. Scheffer
    • 3
    • 5
  • L. H. van den Berg
    • 2
  • H. P. H. Kremer
    • 6
  • E. J. Kamsteeg
    • 3
  • B. P. van de Warrenburg
    • 1
  1. 1.Department of NeurologyRadboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and BehaviourNijmegenThe Netherlands
  2. 2.Department of NeurologyRudolf Magnus Institute of Neuroscience, University Medical Center UtrechtUtrechtThe Netherlands
  3. 3.Department of Human GeneticsRadboud University Nijmegen Medical CentreNijmegenThe Netherlands
  4. 4.Department of NeurologyRivierenland HospitalTielThe Netherlands
  5. 5.Institute for Genetic and Metabolic DiseasesNijmegenThe Netherlands
  6. 6.Department of NeurologyUniversity of Groningen, University Medical Centre GroningenGroningenThe Netherlands

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