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Poly-GA immunohistochemistry is a reliable tool for detecting C9orf72 hexanucleotide repeat expansions
Jordan Carroll1, Heather McCann1, Glenda M Halliday2
1Neuroscience Research Australia, Randwick, New South Wales, Australia.
Brain Pathology (Zurich, Switzerland)
|October 10, 2023
Summary
Poly-GA immunohistochemistry reliably identifies neuronal inclusions in C9orf72 repeat expansion cases. This method aids research when genetic testing is unavailable or tissue is limited post-mortem.
Area of Science:
- Neuroscience
- Neuropathology
- Genetics
Background:
- C9orf72 repeat expansions are a common cause of frontotemporal dementia and amyotrophic lateral sclerosis.
- Identifying specific pathological markers is crucial for diagnosis and research.
- Current diagnostic methods may require genetic testing or specific tissue availability.
