Autopsy reveals four-repeat tauopathy in individuals with severe intellectual disability, suggesting implications for neurodevelopment.
Summary Primary four‐repeat tauopathy can occur in individuals with lifelong severe intellectual disability. Two autopsy cases demonstrated typical PSP and PSP‐like phenotypes with distinct pathological distributions. Molecular autopsy identified variants in SPG7 and CTSD, suggesting intracellular quality‐control vulnerability and lysosomal dysfunction. Neurodevelopmental vulnerability and impaired intracellular degradation may modify late‐onset four‐repeat tauopathy.
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Hata et al. (2026) studied this question.
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