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Publication Detail
C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Cooper-Knock J, Frolov A, Highley JR, Charlesworth G, Kirby J, Milano A, Hartley J, Ince PG, McDermott CJ, Lashley T, Revesz T, Shaw PJ, Wood NW, Bandmann O
  • Publication date:
    27/08/2013
  • Pagination:
    808, 811
  • Journal:
    Neurology
  • Volume:
    81
  • Issue:
    9
  • Status:
    Published
  • Country:
    United States
  • PII:
    WNL.0b013e3182a2cc38
  • Language:
    eng
  • Keywords:
    Amyotrophic Lateral Sclerosis, C9orf72 Protein, DNA Repeat Expansion, DNA-Binding Proteins, Female, Frontotemporal Dementia, Humans, Inclusion Bodies, Male, Middle Aged, Neurons, Parkinson Disease, Proteins, alpha-Synuclein
Abstract
OBJECTIVE: To determine the histopathologic bases for the observed incidence of parkinsonism in families with C9ORF72 expansions, which typically cause amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia. METHODS: DNA was extracted from 377 brains with the histopathologic diagnosis of idiopathic Parkinson disease or related disorders and analyzed for C9ORF72 expansions. α-Synuclein and p62 immunohistochemistry of the substantia nigra (SN) was undertaken in brains of 17 ALS cases with (C9ORF72+) and 51 without (C9ORF72-) the C9ORF72 expansion. RESULTS: Only 1 of 338 cases with pathologically confirmed idiopathic Parkinson disease had a C9ORF72 expansion. Similarly, only 1 of 17 C9ORF72+ brains displayed features suggestive of α-synucleinopathy. In contrast, p62-positive, TDP-43-negative neuronal cytoplasmic inclusions within the SN were considerably more frequent in C9ORF72+ brain tissue than in the C9ORF72- brains (p = 0.005). Furthermore, there was a more marked loss of dopaminergic neurons in the SN of C9ORF72+ ALS brains than C9ORF72- ALS brains (p = 0.029). CONCLUSIONS: SN involvement is common in C9ORF72+ ALS but can be clearly distinguished from Parkinson disease-related mechanisms by the presence of p62-positive inclusions and the absence of α-synuclein-positive Lewy bodies or Lewy neurites.
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