title: Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
abstract: Alzheimer's disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it. A minority of cases occur at a particularly young age and are caused by autosomal dominantly inherited genetic mutations. Although rare, familial AD provides unique opportunities to gain insights into the cascade of pathological events and how they relate to clinical manifestations. The phenotype of familial AD is highly variable and, although it shares many clinical features with sporadic AD, it also possesses important differences. Exploring the genetic and pathological basis of this phenotypic heterogeneity can illuminate aspects of the underlying disease mechanism, and is likely to inform our understanding and treatment of AD in the future.
authors.affiliation: Dementia Research Centre, Department of Neurodegenerative Diseases, University College London, Institute of Neurology, London, UK. ryan@drc.ion.ucl.ac.uk
authors.forename: Natalie S
authors.initials: NS
authors.lastname: Ryan
authors.forename: Martin N
authors.initials: MN
authors.lastname: Rossor
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D000595:Amino Acid Sequence; D016564:Amyloid beta-Protein Precursor / Q000737:chemistry / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D053764:Presenilin-1 / Q000737:chemistry / Q000235:genetics; D053766:Presenilin-2 / Q000737:chemistry / Q000235:genetics; D017434:Protein Structure, Tertiary
chemical_list: D016564:Amyloid beta-Protein Precursor; D005819:Genetic Markers; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2
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