No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients

Yoshino, Yuta; Mori, Yoko; Ochi, Shinichiro; Numata, Shusuke; Ishimaru, Takashi; Yamazaki, Kiyohiro; Ohmori, Tetsuro; Ueno, Shu‐ichi

doi:10.1007/s00702-014-1295-y

Cited by 11 publications

(9 citation statements)

References 12 publications

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“…Indeed, C9orf72 mutations have been reported in individual SZ case reports (Gramaglia et al, 2014). A pathogenic repeat expansion was reported in 0.67% of Italian patients with SZ (Galimberti et al, 2014); the low frequency may explain why the expansions were not detected in other studies (Huey et al, 2013, Yoshino et al, 2014 and Fahey et al, 2014). We screened a US sample and detected four individuals with C9orf72 repeat expansions.…”

Section: Introductionmentioning

confidence: 83%

C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis

Watson

Pribadi

Chowdari

et al. 2016

Psychiatry Research

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A pathologic hexanucleotide repeat expansion in C9orf72 causes frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). Behavioral abnormalities can also occur among mutation carriers with FTD, but it is uncertain whether such mutations occur among persons with psychoses per se. Among participants in a genetic study of psychoses (N=739), two pairs of related individuals had C9orf72 expansions, of whom three were diagnosed with schizophrenia (SZ)/schizoaffective disorder (SZA), but their clinical features did not suggest dementia or ALS. A few patients with SZ/SZA carry C9orf72 repeat expansions; such individuals are highly likely to develop FTD/ALS.

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Section: Introductionmentioning

confidence: 83%

C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis

Watson

Pribadi

Chowdari

et al. 2016

Psychiatry Research

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“…The implications of this finding are unclear, and it is suggested the association could represent a common etiology or alternatively could arise because patients with familial FTD were more likely to be misdiagnosed with schizophrenia. Although there are several case reports of patients presenting with classical features of schizophrenia who are found to have FTD mutations (C9ORF72, GRN, MAPT, VCP) [10,11,32,33], genotyping of typical clinical cohorts of patients with schizophrenia for FTD-causing mutations including C9ORF72 and GRN has typically identified only a very small percentage (<1-2 %) of patients carrying FTD mutations [33][34][35][36].…”

Section: Psychosis In Schizophrenia Vs Ftdmentioning

confidence: 99%

Psychotic Symptoms in Frontotemporal Dementia

Hall

Finger

2015

Curr Neurol Neurosci Rep

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Although psychotic features have long been recognized in association with frontotemporal dementia (FTD), recent genetic discoveries enabling further subtyping of FTD have revealed that psychotic symptoms are frequent in some forms of FTD. Hallucinations and delusions can even precede onset of other cognitive or behavioural symptoms in patients with FTD. In this review, we explore the frequency and types of psychotic symptoms reported in patients with FTD, as well as in other neuropsychiatric disorders, to aid practitioners' consideration of these features in the diagnosis of FTD and related disorders.

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“…The C9orf72 expansion was detected in 0.67% of a SCZ/SZA sample (n = 298) and in 0.57% of a sample of psychotic individuals (n = 697) (15,20). However, this expansion was not found in four other cohorts of BD (n = 206), SCZ (n = 192, n = 466) and in treatment-resistant SCZ (n = 386) 16,18,19,22 . Cross-sectional studies comparing the neurocognitive profile between bvFTD and psychiatric disorders mostly found no remarkable differences 44,45,47,53 , or pointed to less severe deficits in bvFTD 49,55 .…”

Section: Resultsmentioning

confidence: 95%

“…On LILACS, none of the nine retrieved met the requirements. Therefore, 42 articles were selected, of which 10 were cohort studies 15,16,17,18,19,20,21,22,23,24 , three were case-control studies 25,26,27 , 12 were case repo rts 28,29,30,31,32,33,34,35,36,37,38,39 and 17 other studies were cross-sectional surveys 6,7,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54 .…”

Section: Resultsmentioning

confidence: 99%

Behavioral variant frontotemporal dementia in patients with previous severe mental illness: a systematic and critical review

Gambogi

Guimarães

Souza

et al. 2019

Arq. Neuro-Psiquiatr.

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Objectives: To explore the relationship between severe/serious mental illness (SMI) and the behavioral variant of frontotemporal dementia (bvFTD), as the patterns of symptoms and cognitive performance that characterize both disorders share similarities. Methods: We performed a systematic review investigating what has already been published regarding the relationship between bvFTD and SMI. Studies were selected from PubMed and LILACS databases, including those published up to February 12, 2018. The search strategy included the following terms: “frontotemporal dementia” plus “bipolar”, OR “frontotemporal dementia” plus “schizophrenia”, OR “frontotemporal dementia” plus “schizoaffective”. Publications without abstracts, case reports with absent genetic or histopathological confirmation, reviews and non-English language papers were excluded across the search process. Results: The search on PubMed retrieved 186 articles, of which 42 met eligibility criteria. On the LILACS database, none met the requirements. Generally, three major research aims were identified: 1) to look for frontotemporal lobar degeneration-associated genetic abnormalities in patients with prior SMI; 2) to compare the cognitive profile between patients affected by neurodegenerative disorders and schizophrenic patients; 3) to highlight the association between bvFTD and preceding psychiatric conditions and/or distinguish them both. The investigated mutations were found infrequently in the studied SMI samples. Cross-sectional studies comparing cognitive performance between bvFTD and psychiatric disorders mostly found no remarkable differences. There were only a few case reports identifying definite frontotemporal lobar degeneration in patients with previous psychiatric diagnoses. Conclusions: The available evidence demonstrates how fragile the current understanding is regarding the association between bvFTD and prior SMI.

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No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients

Cited by 11 publications

References 12 publications

C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis

C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis

Psychotic Symptoms in Frontotemporal Dementia

Behavioral variant frontotemporal dementia in patients with previous severe mental illness: a systematic and critical review

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