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Selective loss of Primary Cilia and Neurotrophic Signaling in G51D alpha-Synuclein Mice Highlights a Common Pathway to Parkinsons Disease

Lin, Y.-E.; Jaimon, E.; Kim, Y.; Loftman, A.; Vijayakumaran, A.; Belfort, B. D.; Chiang, C. Y.; Arenkiel, B. R.; Zoghbi, H. Y. Y.; Pfeffer, S. R.

2026-02-25 neuroscience
10.64898/2026.02.25.708014 bioRxiv
Show abstract

Parkinsons disease is characterized by dopaminergic neuron loss and accumulation of -synuclein aggregates in the brain. G51D -synuclein knock-in mice provide a genetically and clinically relevant model of disease, exhibiting early olfactory deficits, age-dependent motor impairment, and progressive phospho--synuclein accumulation. In multiple Parkinsons disease models, striatal cholinergic and parvalbumin interneurons, as well as astrocytes, lose primary cilia and the neurotrophic signaling needed to sustain dopaminergic neurons. We show here that G51D--synuclein mice share these phenotypes. Phospho-Ser129 -synuclein accumulation correlates with cilia loss in cholinergic interneurons but not in medium spiny neurons that accumulate higher phospho--synuclein levels. In the piriform cortex, parvalbumin neurons lose primary cilia and downregulate Neurturin, potentially contributing to olfactory dysfunction. Within the peripheral olfactory epithelium, horizontal basal cells lose cilia, whereas multi-ciliated olfactory sensory neuron cilia remain intact. These findings reveal convergent cellular vulnerabilities across Parkinsons disease models and highlight a pathogenic role for impaired ciliary signaling. TeaserLoss of primary cilia may contribute to dopamine neuron loss in both inherited and common Parkinsons disease.

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