. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet. 2006 Sep;38(9):1032-7. PubMed.


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  1. This work confirms the association between synuclein and Parkinson disease (PD), which has been reported many times and complements a recent and excellent paper from the Gasser group. As with all meta-analyses, however, one has to worry that publication bias has prevented the publication of negative studies. The synuclein association for sporadic PD resembles the tau association for sporadic tangle disorders and seems to reflect a general principle that genetic variability at the loci underlying autosomal dominant disease contribute to the risk of their sporadic counterparts (Singleton et al., 2004) through a mechanism which involves increased expression of the risk allele.

    View all comments by John Hardy
  2. This study builds upon existing genotyping and combines studies to provide a compelling confirmation of the well-reported association between allele length of the promoter polymorphism REP1 in α-synuclein (SNCA) and risk for Parkinson disease (1-5). These data, along with previous functional data (6) and the observation that triplication of the SNCA locus causes disease (7) are absolutely consistent with the idea that increased production of α-synuclein is a risk factor for Parkinson disease and other Lewy body disorders. While this is unlikely to be predictive of disease risk, it reaffirms the predicted role of expression of the deposited species in diseases of protein deposition (8), consistent with SNCA multiplication in PD and trisomy 21/APP duplication in Alzheimer disease (9).

    View all comments by Andrew Singleton