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Rare genetically defined causes of dementia

Published online by Cambridge University Press:  08 September 2005

K. E. Novakovic ,
V. L. Villemagne ,
C. C. Rowe  and
C. L. Masters
K. E. Novakovic
Affiliation:
Department of Nuclear Medicine, Centre for PET, Austin Hospital, Melbourne, Victoria, Australia Department of Medicine (Austin Health), The University of Melbourne, Victoria, Australia Department of Pathology, The University of Melbourne, Victoria, Australia The Mental Health Research Institute of Victoria, Parkville, Victoria, Australia
V. L. Villemagne
Affiliation:
Department of Nuclear Medicine, Centre for PET, Austin Hospital, Melbourne, Victoria, Australia Department of Medicine (Austin Health), The University of Melbourne, Victoria, Australia Department of Pathology, The University of Melbourne, Victoria, Australia The Mental Health Research Institute of Victoria, Parkville, Victoria, Australia
C. C. Rowe
Affiliation:
Department of Nuclear Medicine, Centre for PET, Austin Hospital, Melbourne, Victoria, Australia Department of Medicine (Austin Health), The University of Melbourne, Victoria, Australia Department of Pathology, The University of Melbourne, Victoria, Australia
C. L. Masters
Affiliation:
Department of Medicine (Austin Health), The University of Melbourne, Victoria, Australia Department of Pathology, The University of Melbourne, Victoria, Australia The Mental Health Research Institute of Victoria, Parkville, Victoria, Australia
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Abstract

Several genetic disorders, though rare, are associated or present with dementia. Developments in the field of genetics are contributing to clarify and expand our knowledge of the complex physiopathological mechanisms leading to neurodegeneration and cognitive decline. Disorders associated with misfolded and aggregated proteins and lipid, metal or energy metabolism are examples of the multifarious disease processes converging in the clinical features of dementia, either as its predominant feature, as in cases of Alzheimer's disease (AD) or frontotemporal dementia (FTD), or as part of a cohort of accompanying or late-developing symptoms, as in Parkinson's disease (PD) or amyotrophic lateral sclerosis with dementia (ALS-D). Awareness of these disorders, allied with recent advances in genetic, biochemical and neuroimaging techniques, may lead to early diagnosis, successful treatment and better prognosis.

Keywords

Neurodegenerationdementiaprotein aggregation diseasealtered lipid metabolismaltered metal metabolismenergy metabolism
Type
Research Article
Information
International Psychogeriatrics , Volume 17 , Issue s1 , September 2005 , pp. S149 - S194
Copyright
© International Psychogeriatric Association 2005

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