. HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Ann Neurol. 2006 Sep;60(3):314-22. PubMed.


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  1. This study extends the findings on progranulin to include the HDD2 (hereditary dysphasic disinhibition dementia) family, thereby solving yet another important unsolved mystery about frontotemporal dementias.

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  1. Salzburg: New Proteins Redefine Frontotemporal Dementias