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Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life Snider BJ; Norton J; Coats MA; Chakraverty S; Hou CE; Jervis R; Lendon CL; Goate AM; McKeel DW Jr; Morris JCArch Neurol 2005[Dec]; 62 (12): 1821-30BACKGROUND: Cases of early-onset Alzheimer disease (AD) with an autosomal dominant inheritance pattern (familial AD [FAD]) are rare but have greatly advanced our understanding of the molecular pathogenesis of AD. We describe herein a kindred with very early-onset FAD (age, <40 years) with unusual pathological features and a novel mutation in the presenilin 1 (PSEN1) gene (S170F) and review the existing literature on very early-onset FAD. OBJECTIVE: To analyze the neuropathological and genetic features of a family with onset of AD in the third decade of life. DESIGN, SETTING, AND PARTICIPANTS: The proband underwent full clinical assessment and postmortem examination at the Washington University Alzheimer's Disease Research Center, St Louis, Mo. Limited pathological samples and autopsy records of 2 affected family members were available. The proband underwent screening for mutations in genes linked with FAD. RESULTS: Dementia developed in 3 family members in this kindred at a mean age of 27 years; the proband had myoclonus, seizures, and rigidity, similar to findings in previously described kindreds with PSEN1 mutations. All 3 family members were confirmed to have AD by neuropathological examination. The proband also had widespread Lewy body pathology in the brainstem, limbic areas, and neocortex; specific staining for Lewy bodies was not performed in the other 2 family members. The proband had a single mutation (S170F) in exon 6 of the PSEN1 gene, which segregates with disease. CONCLUSIONS: A novel PSEN1 mutation causes very-early-onset FAD with associated Lewy bodies. To our knowledge, this kindred has the earliest reported onset of pathologically confirmed FAD and dementia with Lewy bodies.|Adult[MESH]|Age of Onset[MESH]|Alzheimer Disease/*genetics/pathology/physiopathology[MESH]|Amino Acid Substitution/genetics[MESH]|Brain/metabolism/pathology/physiopathology[MESH]|Chromosome Disorders/genetics/pathology/physiopathology[MESH]|Disease Progression[MESH]|Exons/genetics[MESH]|Family Health[MESH]|Fatal Outcome[MESH]|Female[MESH]|Genetic Predisposition to Disease/*genetics[MESH]|Humans[MESH]|Lewy Bodies/*genetics/metabolism[MESH]|Lewy Body Disease/*genetics/pathology/physiopathology[MESH]|Male[MESH]|Membrane Proteins/*genetics[MESH]|Mutation/*genetics[MESH]|Neurofibrillary Tangles/genetics/metabolism/pathology[MESH]|Pedigree[MESH]|Plaque, Amyloid/genetics/metabolism/pathology[MESH]|Presenilin-1[MESH]|alpha-Synuclein/genetics/metabolism[MESH] |
