Neurodegeneration and hereditary dementias: 40 years of learning.
The invitation to participate in the commemorative issue celebrating the 100 th anniversary of Dr. Alois Alzheimer's report on the disease that would later bear his name has evoked memories of my early experiences in the study of dementia, my teachers, my role-models, my aspirations and my accomplishments. Early in my career, I was fascinated with the study of hereditary neurological disorders. The observation of families in which dementia was inherited in an autosomal dominant pattern excited my scientific curiosity. Three very different phenotypes in patients from three separate families have been the basis for novel scientific discovery, which has taken place over the past 30 years. This could not have taken place without the help of many generous patients and their families as well as wonderful colleagues for whom I am deeply grateful. Some of the original observations in these families have led to the discovery of genetic mutations in three genes that are among the most commonly affected in hereditary dementia. The work on these families has enriched the scientific community and our knowledge of dementing illnesses.
Ghetti
Bernardino
B
Indiana University School of Medicine, Indianapolis, IN, USA. bghetti@iupui.edu
D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D001921:Brain / Q000473:pathology*; D003704:Dementia / Q000235:genetics / Q000266:history / Q000473:pathology; D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009410:Nerve Degeneration / Q000473:pathology*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D053764:Presenilin-1; D053766:Presenilin-2
D016564:Amyloid beta-Protein Precursor; D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2