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You searched for subject:(otsa ohimolohkorappeumat). Showing records 1 – 2 of 2 total matches.

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1. Suhonen, N. M. (Noora- Maria). Cognitive and behavioral characteristics of frontotemporal lobar degeneration.

Degree: 2017, University of Oulu

Abstract Frontotemporal lobar degeneration (FTLD) is the second commonest cause of dementia after Alzheimer’s disease (AD) in patients <65 years. Its most frequent clinical subtype is behavioral variant frontotemporal dementia (bvFTD) characterized by behavioral change and executive deficits. FTLD also encompasses two variants of primary progressive aphasia (PPA) characterized by language deficits. The majority of familial FTLD cases are linked to the C9ORF72 expansion mutation. As both cognitive and behavioral changes are core diagnostic features of FTLD, neuropsychological assessment is vital. However, neuropsychological literature is inconclusive regarding the most functional measures for detecting FTLD. Current knowledge on the cognitive profile of patients with the C9ORF72 expansion is scarce. The aims of this thesis were threefold: (1) to identify the cognitive measures that optimally serve the differential diagnosis of FTLD, (2) to characterize the neuropsychological profile of C9ORF72 expansion; and (3) to examine the utility of the Modified Frontal Behavioral Inventory (FBI-mod) in differentiating FTLD, AD, and mild cognitive impairment (MCI). The participants comprised FTLD, AD, and MCI patients diagnosed in the University Hospitals of Oulu and Kuopio. The patients underwent a detailed neuropsychological assessment including the CERAD neuropsychological battery (CERAD-NB) and the FBI-mod. While bvFTD was characterized by verbal fluency, working memory, and verbal comprehension deficits relative to AD, AD was associated with greater episodic memory impairments. The poorer delayed recall in AD was further evident on the memory tests of the CERAD-NB; however, its overall utility in the differentiation between FTLD and AD was limited. The C9ORF72 expansion carriers showed more severe executive deficits than non-carriers. The C9ORF72 expansion may further be associated with slowly progressing FTLD. On the FBI-mod, bvFTD was linked to amplified behavioral symptoms relative to AD, MCI, and PPA. Findings highlight the importance of incorporating a broad cognitive battery in the neuropsychological evaluation of FTLD. Though the clinical phenotype of C9ORF72 expansion appears broad, executive impairment likely is a core feature of bvFTD patients with the expansion. The use of the FBI-mod is recommended as a structured measure for behavioral symptoms of bvFTD.

Tiivistelmä Otsa-ohimolohkorappeumat on Alzheimerin taudin (AT) jälkeen yleisin työikäisten dementiaa aiheuttava sairausryhmä. Sen yleisin alamuoto on otsalohkodementia, jonka ensioireita ovat käyttäytymisen muutokset ja toiminnanohjauksen ongelmat. Sairausryhmään kuuluu myös kaksi kielellisin oirein ilmenevää alatyyppiä. C9ORF72-toistojaksomutaation on todettu selittävän suurimman osan perinnöllisistä tapauksista. Kognitiivisten ja käyttäytymiseen liittyvien muutosten arvioiminen on keskeinen osa taudin diagnostiikkaa. Tutkimustiedon perusteella on epäselvää, mitkä neuropsykologiset menetelmät soveltuvat parhaiten otsa-ohimolohkorappeumien…

Advisors/Committee Members: Remes, A. (Anne), Hänninen, T. (Tuomo).

Subjects/Keywords: behavioral symptoms; dementia; frontotemporal dementia; frontotemporal lobar degeneration; neuropsychological tests; dementia; käytösoireet; neuropsykologia; otsa-ohimolohkorappeumat; otsalohkodementia; C9ORF72

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APA (6th Edition):

Suhonen, N. M. (. M. (2017). Cognitive and behavioral characteristics of frontotemporal lobar degeneration. (Doctoral Dissertation). University of Oulu. Retrieved from http://urn.fi/urn:isbn:9789526216102

Chicago Manual of Style (16th Edition):

Suhonen, N M (Noora- Maria). “Cognitive and behavioral characteristics of frontotemporal lobar degeneration.” 2017. Doctoral Dissertation, University of Oulu. Accessed December 11, 2019. http://urn.fi/urn:isbn:9789526216102.

MLA Handbook (7th Edition):

Suhonen, N M (Noora- Maria). “Cognitive and behavioral characteristics of frontotemporal lobar degeneration.” 2017. Web. 11 Dec 2019.

Vancouver:

Suhonen NM(M. Cognitive and behavioral characteristics of frontotemporal lobar degeneration. [Internet] [Doctoral dissertation]. University of Oulu; 2017. [cited 2019 Dec 11]. Available from: http://urn.fi/urn:isbn:9789526216102.

Council of Science Editors:

Suhonen NM(M. Cognitive and behavioral characteristics of frontotemporal lobar degeneration. [Doctoral Dissertation]. University of Oulu; 2017. Available from: http://urn.fi/urn:isbn:9789526216102


University of Oulu

2. Kaivorinne, A.-L. (Anna-Lotta). Frontotemporal lobar degeneration in Finland:molecular genetics and clinical aspects.

Degree: 2012, University of Oulu

Abstract Frontotemporal lobar degeneration (FTLD) is the second most common neurodegenerative disease leading to early-onset dementia (< 65 years), next to Alzheimer’s disease. FTLD is substantially a genetic disorder with up to 50% of cases having a positive family history. Mutations in the genes microtubule-associated protein tau (MAPT) and progranulin (PGRN) account for about 10–20% of all cases of FTLD. Hexanucleotide repeat expansion mutation within the gene C9ORF72 has recently been identified as the major cause of FTLD, FTLD with amyotrophic lateral sclerosis (ALS) and pure ALS. During this study, hexanucleotide repeat expansion within the C9ORF72 gene was shown to explain nearly 50% of familial and 30% of all FTLD cases in the Finnish population. Otherwise, the genetic background of Finnish FTLD is largely unknown. The object of the present work was to disentangle the genetic aetiology of FTLD in the Finnish population. We studied a cohort of patients with a clinical diagnosis of FTLD from the province of Northern Ostrobothnia, Finland. Sequencing analysis of the genes MAPT, charged multi-vesicular body protein 2B (CHMP2B) and TAR DNA binding protein (TARDBP) were performed and the MAPT haplotypes were analysed. Correlations between genotype and phenotype were studied in patients with C9ORF72 repeat expansion mutation. C9ORF72 expansion mutation explained nearly 30% of cases of FTLD in our cohort. Concomitant ALS and positive family history of the disease increased the possibility of carrying expanded C9ORF72. The clinical phenotype of C9ORF72 expansion carriers varied at presentation: both behavioural and language variants were detected with or without ALS. The behavioural presentations included prominent psychotic features, although psychiatric presentations were not overrepresented in expansion carriers. No pathogenic mutations were identified in the MAPT, CHMP2B and TARDBP genes in our series of FTLD patients. The H2 MAPT haplotype was associated with FTLD in the series. Our findings emphasise the importance of C9ORF72 expansion mutation in FTLD. While mutations in MAPT and PGRN cause a significant proportion of cases of FTLD worldwide, they seem to be rare causes of FTLD in the Finnish population. Besides being infrequent in other populations, mutations in CHMP2B and TARDBP are rare causes of FTLD in the Finnish population as well. Our findings have clinical implications for recognising phenotypic features characteristic of expanded C9ORF72 as well as for genetic counselling of Finnish patients with FTLD. Even though a considerable proportion of our cases of familial FTLD is caused by the C9ORF72 expansion, over 50 % of our familial cases are without a molecular genetic diagnosis, suggesting that there are other unidentified causal genes to be found.

Tiivistelmä Otsa-ohimolohkorappeumat on toiseksi yleisin työikäisten dementiaa aiheuttava etenevä aivojen rappeumasairaus. Toisinaan otsa-ohimolohkorappeumat esiintyvät yhdessä liikehermorappeuman, amyotrofisen lateraaliskleroosin…

Advisors/Committee Members: Remes, A. (Anne).

Subjects/Keywords: C9ORF72; TAR DNA binding protein; charged multi-vesicular body protein 2B; dementia; frontotemporal dementia; frontotemporal lobar degeneration; genetics; haplotype; microtubule-associated protein tau; molecular genetics; mutation; phenotype; polymorphism; repeat expansion; dementia; geenit; geneettinen assosiaatioanalyysi; genetiikka; genotyyppi; molekyyligenetiikka; mutaatiot; otsa-ohimolohkorappeumat

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Kaivorinne, A. -. (. (2012). Frontotemporal lobar degeneration in Finland:molecular genetics and clinical aspects. (Doctoral Dissertation). University of Oulu. Retrieved from http://urn.fi/urn:isbn:9789526200132

Chicago Manual of Style (16th Edition):

Kaivorinne, A -L (Anna-Lotta). “Frontotemporal lobar degeneration in Finland:molecular genetics and clinical aspects.” 2012. Doctoral Dissertation, University of Oulu. Accessed December 11, 2019. http://urn.fi/urn:isbn:9789526200132.

MLA Handbook (7th Edition):

Kaivorinne, A -L (Anna-Lotta). “Frontotemporal lobar degeneration in Finland:molecular genetics and clinical aspects.” 2012. Web. 11 Dec 2019.

Vancouver:

Kaivorinne A-(. Frontotemporal lobar degeneration in Finland:molecular genetics and clinical aspects. [Internet] [Doctoral dissertation]. University of Oulu; 2012. [cited 2019 Dec 11]. Available from: http://urn.fi/urn:isbn:9789526200132.

Council of Science Editors:

Kaivorinne A-(. Frontotemporal lobar degeneration in Finland:molecular genetics and clinical aspects. [Doctoral Dissertation]. University of Oulu; 2012. Available from: http://urn.fi/urn:isbn:9789526200132

.