Summary
We describe a new mutation in the PGRN gene (A303AfsX57) associated with late-onset frontotemporal dementia and with “cat’s eye” shaped intranuclear and cytoplasmatic ubiquitin immunoreactive inclusions in the neuropathological exam. The A303AfsX57 mutation is consistent with a nucleotide deletion in exon 8 (c908delC). This deletion causes a frameshift at codon 303 that introduces a premature termination codon (A303AfsX57).
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Lladó, A., Sánchez-Valle, R., Reñé, R. et al. Late-onset frontotemporal dementia associated with a novel PGRN mutation. J Neural Transm 114, 1051–1054 (2007). https://doi.org/10.1007/s00702-007-0716-6
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DOI: https://doi.org/10.1007/s00702-007-0716-6