Abstract/Journal Article

DZNE-2020-00895

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png P196: The phenotypic variability of c9orf72 mutations: at theinterface between neurology and psychiatry

Rossmeier, C. ; Edbauer, D.DZNE* ; Diehl-Schmid, J.

2016

Abstract: C9orf72 hexanucleotide repeat expansions have been identifiedas frequent cause of sporadic and familial frontotemporal dementia(FTD) and amyotrophic lateral-sclerosis (ALS).To determine the prevalence of c9orf72 hexanucleotide repeatexpansions in Germany and to describe the clinical phenotypes andfamily histories, 250 patients with a diagnosis of possible orprobable frontotemporal dementia, which were diagnosed at aGerman memory clinic, were tested for c9orf72 mutations. 12patients (4.8%) were tested positive. Seven patients were female.Mean age of onset was 56 years with a range from 30 to 76 years.In seven patients a behavioral variant FTD, in one patient semanticvariant FTD was diagnosed. In the other patients, the phenotypicpresentation preceding the FTD diagnosis varied considerably. Twopatients presented with clinical symptoms of Alzheimer’s disease,one patient had a therapy refractory depression with body dysmor-phophobia as first symptom, before a diagnosis of bvFTD was made10 years later. One patient was diagnosed with therapy refractoryschizophrenia/ schizoaffective disorders with severe body halluci-nations, before symptoms of FTD became obvious eight years later.Three of the patients with bvFTD developed amyotrophic lateralsclerosis later in the course. Family history was positive forneuropsychiatric disorders in eight cases (dementia, ALS, bipolardisorder, major depression)The clinical phenotype of c9orf72 mutations varies considerably.Clinicopathological studies need to reveal, if the cerebral distribu-tion of pathology causes the different clinical presentations.

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Contributing Institute(s):

1. Cell Biology of Neurodegeneration (AG Edbauer)

Research Program(s):

1. 342 - Disease Mechanisms and Model Systems (POF3-342) (POF3-342)

Appears in the scientific report 2016

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; Nationallizenz ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection

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