title: Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort.
abstract: OBJECTIVE
  Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders characterized by a progressive gait disorder, lower limb spasticity, hyper-reflexia, weakness and extensor plantar responses. Recently, large intronic hexanucleotide repeat expansions (GGGGCC) in C9ORF72 have been found to cause frontotemporal dementia (FTD), amyotrophic lateral sclerosis and FTD with motor neuron disease. Owing to the overlapping phenotypes among HSP, amyotrophic lateral sclerosis and FTD with motor neuron disease along with shared pathological findings, we hypothesized that C9ORF72 expansions might be a genetic risk factor or modifier of HSP.
  
  
  METHODS
  Clinically characterized HSP patients were investigated for elongations in the hexanucleotide repeat of C9ORF72.
  
  
  RESULTS
  Upon analyses of the repeat lengths in the C9ORF72 gene in a Danish cohort of HSP patients, we found no expansions.
  
  
  CONCLUSIONS
  We conclude that HSP is most likely not associated with repeat expansions in C9ORF72.
authors.affiliation: 1] Danish Dementia Research Centre, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark [2] Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.
authors.forename: T T
authors.initials: TT
authors.lastname: Nielsen
authors.affiliation: 1] Danish Dementia Research Centre, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark [2] Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.
authors.forename: K
authors.initials: K
authors.lastname: Svenstrup
authors.affiliation: Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
authors.forename: M
authors.initials: M
authors.lastname: Duno
authors.affiliation: 1] Danish Dementia Research Centre, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark [2] Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.
authors.forename: J E
authors.initials: JE
authors.lastname: Nielsen
mesh_terms: D001483:Base Sequence; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion / Q000235:genetics*; D003718:Denmark; D006801:Humans; D011506:Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins