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

Abstract

We present a family of five 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 findings may suggest an inherited biochemical defect that permits the clinical expression of MND, dementia, atherosclerosis and amyloidosis, or combinations of the three disorders.



J Neurol Res. 2011;1(4):161-164
doi: https://doi.org/10.4021/jnr63w