Institutes of Health scientists developing a rapid, practical test for the
early diagnosis of prion diseases have modified the assay to offer the
possibility of improving early diagnosis of Parkinson’s disease and dementia
with Lewy bodies. The group, led by NIH’s National Institute of Allergy and
Infectious Diseases (NIAID), tested 60 cerebral spinal fluid samples, including
12 from people with Parkinson’s disease, 17 from people with dementia with Lewy
bodies, and 31 controls, including 16 of whom had Alzheimer’s disease. The test
correctly excluded all the 31 controls and diagnosed both Parkinson’s disease
and dementia with Lewy bodies with 93 percent accuracy.
test results were available within two days, compared to related assays that
require up to 13 days. The group conducted the tests using Real-Time
Quaking-Induced Conversion (RT-QuIC), an assay developed and refined over the
past decade at NIAID’s Rocky Mountain Laboratories. Scientists from the
University of California San Diego, University of Verona in Italy, Indiana
University School of Medicine, Indianapolis, and the Case Western Reserve
University School of Medicine, Cleveland, collaborated on the project. The
research findings were published in Acta Neuropathologica Communications.
neurological disorders, including Parkinson’s disease and dementia with Lewy
bodies, involve the abnormal clumping of a protein called alpha-synuclein into
brain deposits, or Lewy bodies. The pathological processes in these diseases
resembles prion diseases in mammal brains. Like prion diseases, Parkinson’s
disease and dementia with Lewy bodies result in progressive deterioration of
brain functions and, ultimately, death.
group continues to adapt the RT-QuIC assay to detect additional types of
neurological diseases with greater accuracy using the least invasive patient
sample possible — whether that is blood, skin, nasal brushings, or other
samples. The group also has trained many international colleagues to use and
advance the test.
Bradley R. Groveman, Christina D. Orrù, Andrew G. Hughson, Lynne D. Raymond,
Gianluigi Zanusso, Bernardino Ghetti, Katrina J. Campbell, Jiri Safar, Douglas
Galasko, Byron Caughey. Rapid and ultra-sensitive quantitation of
disease-associated α-synuclein seeds in brain and cerebrospinal fluid by αSyn
RT-QuIC. Acta Neuropathologica Communications, 2018; 6 (1) DOI: 10.1186/s40478-018-0508-2