Journal Article

DZNE-2022-00067

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Presenilin 1 Gene Mutation (M139V) in a German Family with Early-Onset Alzheimer’s Disease: A Case Report

Fuentes Casan, M. (First author)DZNE* ; Schipke, C.Extern* ; Freiesleben, S. D.DZNE* ; Klostermann, A. ; Peters, O. (Last author)DZNE*

2022
Oxford Univ. Press Oxford [u.a.]

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Please use a persistent id in citations: doi:10.1093/arclin/acab070

Abstract: ObjectiveThis study describes a 44-year-old German male with early-onset Alzheimer’s disease as a result of a M139V presenilin 1 mutation. The patient has at least seven affected family members, spanning at least four generations.MethodWe performed a complete demographic, genetic, neuropsychological, neuropsychiatric, neuroradiological, and neuropathological characterizations of this patient. The findings were compared with previous reports of patients with the same mutation. Demographic, neuropsychological, neuropsychiatric, neuroradiological, and neuropathological data from several affected members of the patient’s family were also addressed.ResultsWe describe similarities shared with other cases, including age at onset, rapid disease progression, severe deficits in arithmetic and visuo-constructive abilities with relative preservation of naming skills, and the presence of predominant frontal behavioral symptoms. Differences with respect to previously described cases, including the absence of positive neurological or radiological findings, psychotic symptoms, or a depressive disorder, are also identified and discussed.ConclusionsHeterogeneity in symptoms between affected patients from the same or from different families suggests that individual, genetic, or epigenetic factors most likely modulate the phenotype of patients carrying the M139V mutation.

Keyword(s): Adult (MeSH) ; Alzheimer Disease: diagnosis (MeSH) ; Alzheimer Disease: genetics (MeSH) ; Humans (MeSH) ; Male (MeSH) ; Mutation (MeSH) ; Neuropsychological Tests (MeSH) ; Pedigree (MeSH) ; Presenilin-1: genetics (MeSH)

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Contributing Institute(s):

1. Interdisciplinary Dementia Research (AG Endres)
2. Microcircuits of Memory (AG Brecht)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)
2. 351 - Brain Function (POF4-351) (POF4-351)

Appears in the scientific report 2022

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Social and Behavioral Sciences ; Ebsco Academic Search ; Essential Science Indicators ; IF < 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Social Sciences Citation Index ; Web of Science Core Collection

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