HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. [electronic resource]
Producer: 20061114Description: 314-22 p. digitalISSN:- 0364-5134
- Adult
- Aged
- Aged, 80 and over
- Aspartic Acid -- genetics
- Chromosomes, Human, Pair 17
- DNA Mutational Analysis -- methods
- Dementia -- genetics
- Family Health
- Female
- Genetic Predisposition to Disease
- Humans
- Immunohistochemistry -- methods
- Inclusion Bodies -- metabolism
- Intercellular Signaling Peptides and Proteins -- genetics
- Male
- Middle Aged
- Mutation, Missense
- Neuropsychological Tests -- statistics & numerical data
- Ubiquitin -- metabolism
- Valine -- genetics
- tau Proteins -- metabolism
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Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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