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| Home > Publications Database > O4: Phenotype, neuropsychology and psychopathology ofC9orf72 mutation carriers from the German FTLD-Consortium |
| Home > Publications Database > O4: Phenotype, neuropsychology and psychopathology ofC9orf72 mutation carriers from the German FTLD-Consortium |
| Abstract/Journal Article | DZNE-2020-00843 |
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2016
Abstract: It has been suggested, that the clinical phenotype of behavioralvariant frontotemporal dementia (bvFTD) patients with C9orf72mutation differs from non-carriers. It has been stated, that distur-bances of episodic memory as well as psychotic symptoms are morefrequent in C9orf72 mutation carriers and that mutation carriers lesslikely meet the diagnostic criteria for bvFTD.From 386 tested, 23 bvFTD-patients with C9orf72 mutationswere identified in the German FTLD-Consortium. Firstly, it wasrated, if the patients fulfilled the diagnostic criteria for possible orprobable bvFTD. In a second step, mutation carriers with earlybvFTD (< 5 years after onset, N = 16) were identified andneuropsychological test performance, psychopathology and imagingwas compared to non-mutation carriers with early probable bvFTD.Among the mutation carriers one patient had a “psychiatric ”phenotype with severe hallucinations of body sensations. Onepatient had a 10 year long history of therapy-refractory depressionbefore symptoms of bvFTD occurred and one patient showedclinical symptoms typical for Alzheimer’s disease. In the group ofearly bvFTD patients no significant differences were detectedbetween mutation carriers and non-mutation carriers regarding theprevalence of cognitive and psychiatric symptoms. None of themutation carriers suffered from visual or auditory hallucinations.Likewise, no significant differences were detected regardingneuropsychological test performance. However, there was a (statis-tically not significant) trend that forgetfulness was more oftenreported as first symptom in mutation carriers than in non-carriers. Apreliminary analysis revealed no significant differences in MRI- andPET imaging, a finding that needs, however, to be confirmed infurther voxel based analyses. Taken together, results do not support the hypothesis thatphenotypes of C9orf72 mutation carriers differ from non-carriers. Aselection bias, however, needs to be considered
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