Mutant ApoA-1 Amyloidosis in a Family of Five Siblings With Motor Neuron Disease and Dementia

We present a family of fi ve siblings in which three brothers died of
motor neuron disease (MND) and in two of them concomitant with
dementia. A fourth brother died of myocardial infarction and was
found to have extensive aortic intimal apolipoprotein A-1 (ApoA-1)
derived amyloid deposits and apoA-1 mutation. Hereditary MND,
sometimes associated with dementia, is rare but well documented.
ApoE has recently been associated with the MND, Parkinson and
dementia-complex. To our knowledge, no family has been reported
with concomitant mutant apoA-1 amyloidosis, MND and/or dementia.
These fi ndings may suggest an inherited biochemical defect
that permits the clinical expression of MND, dementia, atherosclerosis
and amyloidosis, or combinations of the three disorders.
Keywords: Amyloidosis; Apolipoprotein A-1; Motor neuron disease;
Dementia; Atherosclerosis