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      Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in C9orf72: A Case Report

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          Abstract

          The case report describes the presentation of a 42-year-old male ultimately diagnosed with FTD-ALS caused by a genetic mutation, who initially presented with atypical psychiatric symptoms. Given that the initial clinical manifestations of FTD-ALS can be quite variable, the diagnosis is often challenging; the case report aims to highlight several key considerations in the diagnostic assessment, including genetic testing in order to guide clinicians in more timely diagnosis and ultimately improve patient care.

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          Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia.

          Katya Rascovsky, John R. Hodges, David Knopman … (2011)
          Based on the recent literature and collective experience, an international consortium developed revised guidelines for the diagnosis of behavioural variant frontotemporal dementia. The validation process retrospectively reviewed clinical records and compared the sensitivity of proposed and earlier criteria in a multi-site sample of patients with pathologically verified frontotemporal lobar degeneration. According to the revised criteria, 'possible' behavioural variant frontotemporal dementia requires three of six clinically discriminating features (disinhibition, apathy/inertia, loss of sympathy/empathy, perseverative/compulsive behaviours, hyperorality and dysexecutive neuropsychological profile). 'Probable' behavioural variant frontotemporal dementia adds functional disability and characteristic neuroimaging, while behavioural variant frontotemporal dementia 'with definite frontotemporal lobar degeneration' requires histopathological confirmation or a pathogenic mutation. Sixteen brain banks contributed cases meeting histopathological criteria for frontotemporal lobar degeneration and a clinical diagnosis of behavioural variant frontotemporal dementia, Alzheimer's disease, dementia with Lewy bodies or vascular dementia at presentation. Cases with predominant primary progressive aphasia or extra-pyramidal syndromes were excluded. In these autopsy-confirmed cases, an experienced neurologist or psychiatrist ascertained clinical features necessary for making a diagnosis according to previous and proposed criteria at presentation. Of 137 cases where features were available for both proposed and previously established criteria, 118 (86%) met 'possible' criteria, and 104 (76%) met criteria for 'probable' behavioural variant frontotemporal dementia. In contrast, 72 cases (53%) met previously established criteria for the syndrome (P < 0.001 for comparison with 'possible' and 'probable' criteria). Patients who failed to meet revised criteria were significantly older and most had atypical presentations with marked memory impairment. In conclusion, the revised criteria for behavioural variant frontotemporal dementia improve diagnostic accuracy compared with previously established criteria in a sample with known frontotemporal lobar degeneration. Greater sensitivity of the proposed criteria may reflect the optimized diagnostic features, less restrictive exclusion features and a flexible structure that accommodates different initial clinical presentations. Future studies will be needed to establish the reliability and specificity of these revised diagnostic guidelines.
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            Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

            Mariely DeJesus-Hernandez, Ian R. Mackenzie, Bradley F. Boeve … (2011)
            Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion of a noncoding GGGGCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively linked to chromosome 9p. This same repeat expansion was identified in the majority of our families with a combined FTD/ALS phenotype and TDP-43-based pathology. Analysis of extended clinical series found the C9ORF72 repeat expansion to be the most common genetic abnormality in both familial FTD (11.7%) and familial ALS (23.5%). The repeat expansion leads to the loss of one alternatively spliced C9ORF72 transcript and to formation of nuclear RNA foci, suggesting multiple disease mechanisms. Our findings indicate that repeat expansion in C9ORF72 is a major cause of both FTD and ALS. Copyright © 2011 Elsevier Inc. All rights reserved.
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              A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

              Alan E. Renton, Elisa Majounie, Adrian Waite … (2011)
              The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region. Here we show that there is a large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 on the affected haplotype. This repeat expansion segregates perfectly with disease in the Finnish population, underlying 46.0% of familial ALS and 21.1% of sporadic ALS in that population. Taken together with the D90A SOD1 mutation, 87% of familial ALS in Finland is now explained by a simple monogenic cause. The repeat expansion is also present in one-third of familial ALS cases of outbred European descent, making it the most common genetic cause of these fatal neurodegenerative diseases identified to date. Copyright © 2011 Elsevier Inc. All rights reserved.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Geriatr Psychiatry Neurol
                Journal ID (iso-abbrev): J Geriatr Psychiatry Neurol
                Journal ID (hwp): spjgp
                Journal ID (publisher-id): JGP
                Title: Journal of Geriatric Psychiatry and Neurology
                Publisher: SAGE Publications (Sage CA: Los Angeles, CA )
                ISSN (Print): 0891-9887
                ISSN (Electronic): 1552-5708
                Publication date (Electronic): 7 August 2023
                Publication date (Print): March 2024
                Volume: 37
                Issue: 2
                Pages: 157-162
                Affiliations
                [1 ]Department of Psychiatry, Ringgold 3688, universityDalhousie University; , Halifax, NS, Canada
                [2 ]Ringgold 432234, universityNova Scotia Health; , Halifax, NS, Canada
                [3 ]universityIWK Maritime Medical Genetics; , Halifax, NS, Canada
                Author notes
                [*]Marissa A. LeBlanc, Department of Psychiatry, Dalhousie University, Abbie J. Lane, Building 5909 Veteran’s Memorial Lane, Halifax, NS B3H 2E2, Canada. Email: m.leblanc@ 123456dal.ca
                [*]

                the two authors have contributed equally to this manuscript

                [**]

                the two authors have contributed equally to this manuscript

                Author information
                https://orcid.org/0009-0002-6410-9577
                Article
                Publisher ID: 10.1177_08919887231195337
                DOI: 10.1177/08919887231195337
                PMC ID: 10802081
                PubMed ID: 37548032
                SO-VID: 66f5c3f7-87d1-4e66-abb4-27f23b54f2da
                Copyright © © The Author(s) 2023
                License:

                This article is distributed under the terms of the Creative Commons Attribution 4.0 License ( https://creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page ( https://us.sagepub.com/en-us/nam/open-access-at-sage).

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                Subject: Original Articles
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                Keywords: c9orf72,frontotemporal dementia,psychosis
                Data availability:
                Keywords: c9orf72, frontotemporal dementia, psychosis

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