Neurodegeneration and hereditary dementias: 40 years of learning

Article type: Research Article

Authors: Ghetti, Bernardino

Affiliations: Indiana University School of Medicine, Indianapolis, IN, USA. E-mail: bghetti@iupui.edu

Abstract: The invitation to participate in the commemorative issue celebrating the 100th 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.

DOI: 10.3233/JAD-2006-9S306

Journal: Journal of Alzheimer's Disease, vol. 9, no. s3, pp. 45-52, 2006