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Tau positron emission tomography imaging in C9orf72 repeat expansion carriers.
Ly, C V; Koenig, L; Christensen, J; Gordon, B; Beaumont, H; Dahiya, S; Chen, J; Su, Y; Nelson, B; Jockel-Balsarotti, J; Drain, C; Jerome, G; Morris, J C; Fagan, A M; Harms, M B; Benzinger, T L S; Miller, T M; Ances, B M.
Affiliation
  • Ly CV; Department of Neurology, Washington University, Saint Louis, MO, USA.
  • Koenig L; Department of Radiology, Washington University, Saint Louis, MO, USA.
  • Christensen J; Department of Radiology, Washington University, Saint Louis, MO, USA.
  • Gordon B; Department of Radiology, Washington University, Saint Louis, MO, USA.
  • Beaumont H; Knight Alzheimer's Disease Research Center, Washington University, Saint Louis, MO, USA.
  • Dahiya S; Department of Neurology, Washington University, Saint Louis, MO, USA.
  • Chen J; Department of Pathology and Immunology, Washington University, Saint Louis, MO, USA.
  • Su Y; Department of Pathology and Immunology, Washington University, Saint Louis, MO, USA.
  • Nelson B; Banner Alzheimer's Institute, Phoenix, AZ, USA.
  • Jockel-Balsarotti J; Department of Neurology, Washington University, Saint Louis, MO, USA.
  • Drain C; Department of Neurology, Washington University, Saint Louis, MO, USA.
  • Jerome G; Department of Neurology, Washington University, Saint Louis, MO, USA.
  • Morris JC; Department of Neurology, Washington University, Saint Louis, MO, USA.
  • Fagan AM; Department of Neurology, Washington University, Saint Louis, MO, USA.
  • Harms MB; Knight Alzheimer's Disease Research Center, Washington University, Saint Louis, MO, USA.
  • Benzinger TLS; Department of Neurology, Washington University, Saint Louis, MO, USA.
  • Miller TM; Knight Alzheimer's Disease Research Center, Washington University, Saint Louis, MO, USA.
  • Ances BM; Hope Center for Neurological Disorders, Washington University, Saint Louis, MO, USA.
Eur J Neurol ; 26(9): 1235-1239, 2019 09.
Article in En | MEDLINE | ID: mdl-30790403
ABSTRACT
BACKGROUND AND

PURPOSE:

AV-1451 (18 F-AV-1451, flortaucipir) positron emission tomography was performed in C9orf72 expansion carriers to assess tau accumulation and disease manifestation.

METHODS:

Nine clinically characterized C9orf72 expansion carriers and 18 age- and gender- matched cognitively normal individuals were psychometrically evaluated and underwent tau positron emission tomography imaging. The regional AV-1451 standard uptake value ratios from multiple brain regions were analyzed. Spearman correlation was performed to relate the AV-1451 standard uptake value ratio to clinical, psychometric and cerebrospinal fluid measures.

RESULTS:

C9orf72 expansion carriers had increased AV-1451 binding in the entorhinal cortex compared to controls. Primary age-related tauopathy was observed postmortem in one patient. AV-1451 uptake did not correlate with clinical severity, disease duration, psychometric performance or cerebrospinal fluid markers.

CONCLUSION:

C9orf72 expansion carriers exhibited increased AV-1451 uptake in entorhinal cortex compared to cognitively normal controls, suggesting a propensity for primary age-related tauopathy. However, AV-1451 accumulation was not associated with psychometric performance in our cohort.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tau Proteins / Entorhinal Cortex / Tauopathies / Positron-Emission Tomography / Cognitive Dysfunction / C9orf72 Protein Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Aged / Female / Humans / Male / Middle aged Language: En Journal: Eur J Neurol Journal subject: NEUROLOGIA Year: 2019 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tau Proteins / Entorhinal Cortex / Tauopathies / Positron-Emission Tomography / Cognitive Dysfunction / C9orf72 Protein Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Aged / Female / Humans / Male / Middle aged Language: En Journal: Eur J Neurol Journal subject: NEUROLOGIA Year: 2019 Type: Article Affiliation country: United States