Abstract
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).
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Age of Onset
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Aged
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Autopsy
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Brain / metabolism
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Brain / pathology*
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Brain / physiopathology
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Codon, Nonsense / genetics
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DNA Mutational Analysis
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Dementia / genetics*
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Dementia / pathology*
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Dementia / physiopathology
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Fatal Outcome
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Female
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Frameshift Mutation / genetics
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Frontal Lobe / metabolism
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Frontal Lobe / pathology
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Frontal Lobe / physiopathology
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Humans
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Intercellular Signaling Peptides and Proteins / genetics*
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Intranuclear Inclusion Bodies / genetics
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Intranuclear Inclusion Bodies / metabolism
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Intranuclear Inclusion Bodies / pathology
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Mutation / genetics*
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Neurons / metabolism
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Neurons / pathology
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Progranulins
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Ubiquitin / metabolism
Substances
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Codon, Nonsense
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GRN protein, human
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Genetic Markers
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Intercellular Signaling Peptides and Proteins
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Progranulins
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Ubiquitin