Shen J, Kelleher RJ.
The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.
Proc Natl Acad Sci U S A. 2007 Jan 9;104(2):403-9.
PubMed.
Very interesting review providing a fair and original account of the available data. I strongly recommend this paper.
I would like to remark that the clinical data linking presenilin mutations with non-amyloid dementias have not yet been corroborated with further work demonstrating a causal relationship. For instance, the dementia in the family with the Psen1 insR352 is likely caused by a mutation in progranulin, as reported recently by Boeve et al. (2006).
References:
Boeve BF, Baker M, Dickson DW, Parisi JE, Giannini C, Josephs KA, Hutton M, Pickering-Brown SM, Rademakers R, Tang-Wai D, Jack CR, Kantarci K, Shiung MM, Golde T, Smith GE, Geda YE, Knopman DS, Petersen RC.
Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study.
Brain. 2006 Nov;129(Pt 11):3103-14.
PubMed.
Comments
RIKEN Center for Brain Science
A very interesting view point!
Inserm
This hypothesis stands also for APP.
UK Dementia Research Institute@UCL and VIB@KuLeuven
Very interesting review providing a fair and original account of the available data. I strongly recommend this paper.
I would like to remark that the clinical data linking presenilin mutations with non-amyloid dementias have not yet been corroborated with further work demonstrating a causal relationship. For instance, the dementia in the family with the Psen1 insR352 is likely caused by a mutation in progranulin, as reported recently by Boeve et al. (2006).
References:
Boeve BF, Baker M, Dickson DW, Parisi JE, Giannini C, Josephs KA, Hutton M, Pickering-Brown SM, Rademakers R, Tang-Wai D, Jack CR, Kantarci K, Shiung MM, Golde T, Smith GE, Geda YE, Knopman DS, Petersen RC. Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study. Brain. 2006 Nov;129(Pt 11):3103-14. PubMed.
Make a Comment
To make a comment you must login or register.