, Volume 124, Issue 3, pp 297-303
Date: 09 Aug 2012

The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice

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Introduction

Twenty-one years ago in a paper on Alzheimer’s disease (AD) there was a statement that there is “growing evidence of genetic causes of AD” [8]. Before the 1990s, Parkinson’s disease (PD) was widely considered to have no genetic contribution. We have come a long way since then. In 2012 not only are there confirmed hereditary causes of AD, PD, frontotemporal lobar degeneration (FTLD), and amyotrophic lateral sclerosis (ALS), but also additional genetic risk factors identified for all these diseases. It took several years from the time tau was identified as the pathological hallmark aggregate in cases of FTLD for mutations in MAPT to be identified as the underlying genetic cause of disease. In contrast, with the advent of powerful new sequencing technologies at the exome or genome level, the current pace of genetic discoveries is very rapid. Many of the initial gene discoveries by either candidate gene or linkage analysis approaches were made by single or small research groups ...