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Publication Detail
Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R, Holton JL, Revesz T, Sweeney MG, Singleton AB, Lees AJ, Bhatia KP, Houlden H
  • Publication date:
    02/2015
  • Pagination:
    1221.e1, 1221.e6
  • Journal:
    Neurobiol Aging
  • Volume:
    36
  • Issue:
    2
  • Status:
    Published
  • Country:
    United States
  • PII:
    S0197-4580(14)00537-5
  • Language:
    eng
  • Keywords:
    C9orf72, Corticobasal degeneration (CBD) and corticobasal syndrome (CBS), Multiple system atrophy (MSA), Parkinsonism, Progressive supranuclear palsy (PSP), Adult, Aged, Basal Ganglia, Basal Ganglia Diseases, C9orf72 Protein, DNA Repeat Expansion, Female, Humans, Male, Middle Aged, Multiple System Atrophy, Neurodegenerative Diseases, Parkinsonian Disorders, Proteins, Supranuclear Palsy, Progressive, Syndrome
Abstract
A GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of familial and sporadic amyotrophic lateral sclerosis and frontotemporal dementia. There is suggestion that these expansions may be a rare cause of parkinsonian disorders such as progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD). Screening the C9orf72 gene in 37 patients with features of corticobasal syndrome (CBS) detected an expansion in 3 patients, confirmed by Southern blotting. In a series of 22 patients with clinically diagnosed PSP, we found 1 patient with an intermediate repeat length. We also screened for the C9orf72 expansion in a large series of neuropathologically confirmed samples with MSA (n = 96), PSP (n = 177), and CBD (n = 18). Patients were found with no more than 22 GGGGCC repeats. Although these results still need to be confirmed in a larger cohort of CBS and/or CBD patients, these data suggest that in the presence of a family history and/or motor neuron disease features, patients with CBS or clinical PSP should be screened for the C9orf72 repeat expansion. In addition, we confirm that the C9orf72 expansions are not associated with pathologically confirmed MSA, PSP, or CBD in a large series of cases.
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Clinical and Movement Neurosciences
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Clinical and Movement Neurosciences
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Department of Neuromuscular Diseases
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