Literature DB >> 2025423

Familial Alzheimer disease: a large, multigeneration German kindred.

P Frommelt1, R Schnabel, W Kühne, L E Nee, R J Polinsky.   

Abstract

A German family with 21 members affected by Alzheimer disease (AD) was studied clinically and genetically. The diagnosis was histologically verified in three affected family members. Ancestors were traced through seven generations to a couple residing in East-Westfalia during the middle of the 19th century. Dementia was often accompanied by extrapyramidal features and myoclonus. No cases of Down syndrome or hematologic malignancy occurred in this family. Clinical manifestations, temporal progression, neurological testing, and neuropathological features do not differ from the more common sporadic form of AD. The inheritance pattern is most consistent with autosomal-dominant transmission.

Entities:  

Mesh:

Year:  1991        PMID: 2025423     DOI: 10.1097/00002093-199100510-00005

Source DB:  PubMed          Journal:  Alzheimer Dis Assoc Disord        ISSN: 0893-0341            Impact factor:   2.703


  7 in total

Review 1.  Network abnormalities and interneuron dysfunction in Alzheimer disease.

Authors:  Jorge J Palop; Lennart Mucke
Journal:  Nat Rev Neurosci       Date:  2016-11-10       Impact factor: 34.870

Review 2.  Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.

Authors:  Davis C Ryman; Natalia Acosta-Baena; Paul S Aisen; Thomas Bird; Adrian Danek; Nick C Fox; Alison Goate; Peter Frommelt; Bernardino Ghetti; Jessica B S Langbaum; Francisco Lopera; Ralph Martins; Colin L Masters; Richard P Mayeux; Eric McDade; Sonia Moreno; Eric M Reiman; John M Ringman; Steve Salloway; Peter R Schofield; Reisa Sperling; Pierre N Tariot; Chengjie Xiong; John C Morris; Randall J Bateman
Journal:  Neurology       Date:  2014-06-13       Impact factor: 9.910

3.  Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.

Authors:  R J Harvey; D Ellison; J Hardy; M Hutton; P K Roques; J Collinge; N C Fox; M N Rossor
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-01       Impact factor: 10.154

4.  Apolipoprotein E genotype and neuropathological phenotype in two members of a German family with chromosome 14-linked early onset Alzheimer's disease.

Authors:  R Egensperger; S Kösel; R Schnabel; P Mehraein; M B Graeber
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088

Review 5.  Genetic dissection of Alzheimer disease, a heterogeneous disorder.

Authors:  G D Schellenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1995-09-12       Impact factor: 11.205

Review 6.  Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Authors:  A J Larner; M Doran
Journal:  J Neurol       Date:  2005-11-04       Impact factor: 6.682

Review 7.  Innate immunity in Alzheimer's disease: the relevance of animal models?

Authors:  Diana K Franco Bocanegra; James A R Nicoll; Delphine Boche
Journal:  J Neural Transm (Vienna)       Date:  2017-05-17       Impact factor: 3.575

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.