Abstract:
Neurodegenerative diseases are important causes
of disability and death, with prominent examples
including Alzheimer’s disease, Parkinson’s disease
(PD) and motor neuron disease. Although familial
clustering of these illnesses was well known before
the advent of modern molecular genetics, meaningful strides in
identifying the origin of neurodegenerative diseases have really only
begun to be made in the past two decades. All these disorders are
characterised by a small percentage of affected patients whose disease
is clearly the result of Mendelian inherited genetic illness, either
recessive or dominant. In particular, dominant disease is exemplified
in the case of Alzheimer’s disease by presenilin 2 mutations that
arose in German immigrants from the Volga river region in the 17th
century,[1] and in PD by mutations in the LRRK2 protein that are
linked to a founder effect dating back to the 2nd century, probably
in Ashkenazi Jews.
