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  1. Article: A 13-year follow-up of Finnish patients with Salla disease.

    Paavola, Liisa E / Remes, Anne M / Harila, Marika J / Varho, Tarja T / Korhonen, Tapio T / Majamaa, Kari

    Journal of neurodevelopmental disorders

    2015  Volume 7, Issue 1, Page(s) 20

    Abstract: Background: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the ... ...

    Abstract Background: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up.
    Methods: Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16-65 years, 13 years after a similar examination.
    Results: The survival analysis showed excess mortality among patients with SD after the age of 30 years. The course of the disease was progressive, but follow-up of SD patients revealed that motor skills improved till the age of 20 years, while mental abilities improved in most patients till 40 years of age. Verbal comprehension skills did not diminish during the follow-up, but productive speech deteriorated because of dyspraxia and dysarthria. Motor deficits were marked. Ataxia was prominent in childhood, but it was replaced by athetotic movements during the teens. Spasticity became more obvious with age especially in severely disabled SD patients.
    Conclusions: Younger SD patients performed better in almost every task measuring mental abilities that then seem to remain fairly constant till early sixties. Thus, the results indicate better prognosis in cognitive skills than earlier assumed. There is an apparent decline in motor skills after the age of 20 years. The early neurocognitive development predicts the later course of motor and cognitive development.
    Language English
    Publishing date 2015
    Publishing country England
    Document type Journal Article
    ISSN 1866-1947
    ISSN 1866-1947
    DOI 10.1186/s11689-015-9116-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation.

    Paavola, Liisa E / Remes, Anne M / Sonninen, Pirkko H / Kiviniemi, Vesa V / Korhonen, Tapio T / Majamaa, Kari

    Case reports in neurological medicine

    2012  Volume 2012, Page(s) 615721

    Abstract: Salla disease (SD) is a disorder caused by defective storage of free sialic acid and results from mutations in the SLC17A5 gene. Early developmental delay of motor functions, and later cognitive skills, is typical. We describe a developmental profile of ... ...

    Abstract Salla disease (SD) is a disorder caused by defective storage of free sialic acid and results from mutations in the SLC17A5 gene. Early developmental delay of motor functions, and later cognitive skills, is typical. We describe a developmental profile of an unusual homozygous patient, who harboured the SallaFIN (p.R39C) mutation gene. The study involved neurological examination, neuropsychological investigation, and brain imaging. The neurocognitive findings were atypical in comparison with other patients with the SallaFIN mutation. Interestingly, there was no deterioration in the patient's neurological condition during adulthood. Her neurocognitive skills were remarkably higher than those of other patients with a conventional phenotype of SD. Our results suggest that the phenotype of SD is broad. Unidentified genetic or environmental variation might explain the unique SD type of this case.
    Language English
    Publishing date 2012-11-22
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2629909-4
    ISSN 2090-6676 ; 2090-6668
    ISSN (online) 2090-6676
    ISSN 2090-6668
    DOI 10.1155/2012/615721
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation

    Liisa E. Paavola / Anne M. Remes / Pirkko H. Sonninen / Vesa V. Kiviniemi / Tapio T. Korhonen / Kari Majamaa

    Case Reports in Neurological Medicine, Vol

    2012  Volume 2012

    Keywords Neurology. Diseases of the nervous system ; RC346-429 ; Neurosciences. Biological psychiatry. Neuropsychiatry ; RC321-571 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Neurology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
    Language English
    Publishing date 2012-01-01T00:00:00Z
    Publisher Hindawi Publishing Corporation
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article: Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration.

    Kaivorinne, Anna-Lotta / Bode, Michaela K / Paavola, Liisa / Tuominen, Hannu / Kallio, Mika / Renton, Alan E / Traynor, Bryan J / Moilanen, Virpi / Remes, Anne M

    Dementia and geriatric cognitive disorders extra

    2013  Volume 3, Issue 1, Page(s) 251–262

    Abstract: ... Demographic and clinical features were evaluated. As a potential disease modifier, the apolipoprotein E (APOE ...

    Abstract Background: The most common genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) has been linked to a hexanucleotide repeat expansion in the C9ORF72 gene. The frequency of the C9ORF72 expansion in Finland is among the highest in the world.
    Methods: We assessed 73 Finnish patients with FTLD in order to examine the clinical characteristics associated with the expanded C9ORF72. Demographic and clinical features were evaluated. As a potential disease modifier, the apolipoprotein E (APOE) genotype was also assessed. Neuropathological analysis was available on 2 expansion carriers and 1 non-carrier.
    Results: The C9ORF72 expansion was present in 20 of 70 (29%) probands. Significant associations with the C9ORF72 expansion were observed for concomitant ALS and positive family history of dementia or ALS. Psychoses were detected in both carriers and non-carriers (21 vs. 10%, p = 0.25). The APOE ε4 allele did not cluster among expansion carriers. Numerous p62-positive neuronal inclusions were detected in the cerebellar cortex of the 2 expansion carriers.
    Conclusion: In line with the suggested C9ORF72 core phenotype, we also detected a high frequency of neuropsychiatric symptoms; however, these symptoms seem not be specific to C9ORF72-associated FTLD. FTLD should be considered in cases of middle-age-onset psychosis.
    Language English
    Publishing date 2013-08-20
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2621464-7
    ISSN 1664-5464
    ISSN 1664-5464
    DOI 10.1159/000351859
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: GroupICA dual regression analysis of resting state networks in a behavioral variant of frontotemporal dementia.

    Rytty, Riikka / Nikkinen, Juha / Paavola, Liisa / Abou Elseoud, Ahmed / Moilanen, Virpi / Visuri, Annina / Tervonen, Osmo / Renton, Alan E / Traynor, Bryan J / Kiviniemi, Vesa / Remes, Anne M

    Frontiers in human neuroscience

    2013  Volume 7, Page(s) 461

    Abstract: Functional MRI studies have revealed changes in default-mode and salience networks in neurodegenerative dementias, especially in Alzheimer's disease (AD). The purpose of this study was to analyze the whole brain cortex resting state networks (RSNs) in ... ...

    Abstract Functional MRI studies have revealed changes in default-mode and salience networks in neurodegenerative dementias, especially in Alzheimer's disease (AD). The purpose of this study was to analyze the whole brain cortex resting state networks (RSNs) in patients with behavioral variant frontotemporal dementia (bvFTD) by using resting state functional MRI (rfMRI). The group specific RSNs were identified by high model order independent component analysis (ICA) and a dual regression technique was used to detect between-group differences in the RSNs with p < 0.05 threshold corrected for multiple comparisons. A y-concatenation method was used to correct for multiple comparisons for multiple independent components, gray matter differences as well as the voxel level. We found increased connectivity in several networks within patients with bvFTD compared to the control group. The most prominent enhancement was seen in the right frontotemporal area and insula. A significant increase in functional connectivity was also detected in the left dorsal attention network (DAN), in anterior paracingulate-a default mode sub-network as well as in the anterior parts of the frontal pole. Notably the increased patterns of connectivity were seen in areas around atrophic regions. The present results demonstrate abnormal increased connectivity in several important brain networks including the DAN and default-mode network (DMN) in patients with bvFTD. These changes may be associated with decline in executive functions and attention as well as apathy, which are the major cognitive and neuropsychiatric defects in patients with frontotemporal dementia.
    Language English
    Publishing date 2013-08-26
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2425477-0
    ISSN 1662-5161
    ISSN 1662-5161
    DOI 10.3389/fnhum.2013.00461
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration

    Kaivorinne, Anna-Lotta / Bode, Michaela K. / Paavola, Liisa / Tuominen, Hannu / Kallio, Mika / Renton, Alan E. / Traynor, Bryan J. / Moilanen, Virpi / Remes, Anne M.

    Dementia and Geriatric Cognitive Disorders Extra

    2013  Volume 3, Issue 1, Page(s) 251–262

    Abstract: ... and clinical features were evaluated. As a potential disease modifier, the apolipoprotein E (APOE ...

    Institution Department of Neurology, Institute of Clinical Medicine, University of Oulu Clinical Research Center, Oulu University Hospital, and Departments of Diagnostic Radiology Pathology and Clinical Neurophysiology, Oulu University Hospital, Oulu Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland, and Department of Neurology, Kuopio University Hospital, Kuopio, Finland Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Md., USA
    Abstract Background: The most common genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) has been linked to a hexanucleotide repeat expansion in the C9ORF72 gene. The frequency of the C9ORF72 expansion in Finland is among the highest in the world. Methods: We assessed 73 Finnish patients with FTLD in order to examine the clinical characteristics associated with the expanded C9ORF72. Demographic and clinical features were evaluated. As a potential disease modifier, the apolipoprotein E (APOE) genotype was also assessed. Neuropathological analysis was available on 2 expansion carriers and 1 non-carrier. Results: The C9ORF72 expansion was present in 20 of 70 (29%) probands. Significant associations with the C9ORF72 expansion were observed for concomitant ALS and positive family history of dementia or ALS. Psychoses were detected in both carriers and non-carriers (21 vs. 10%, p = 0.25). The APOE ε4 allele did not cluster among expansion carriers. Numerous p62-positive neuronal inclusions were detected in the cerebellar cortex of the 2 expansion carriers. Conclusion: In line with the suggested C9ORF72 core phenotype, we also detected a high frequency of neuropsychiatric symptoms; however, these symptoms seem not be specific to C9ORF72-associated FTLD. FTLD should be considered in cases of middle-age-onset psychosis.
    Keywords Association study ; Clinical features ; Frontotemporal dementia ; Frontotemporal lobar degeneration ; Genetics
    Language English
    Publishing date 2013-08-20
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    ZDB-ID 2621464-7
    ISSN 1664-5464 ; 1664-5464
    ISSN (online) 1664-5464
    ISSN 1664-5464
    DOI 10.1159/000351859
    Database Karger publisher's database

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  7. Article ; Online: Verbal learning and memory and their associations with brain morphology and illness course in schizophrenia spectrum psychoses.

    Rannikko, Irina / Paavola, Liisa / Haapea, Marianne / Huhtaniska, Sanna / Miettunen, Jouko / Veijola, Juha / Murray, Graham K / Barnes, Anna / Wahlberg, Karl-Erik / Isohanni, Matti / Jääskeläinen, Erika

    Journal of clinical and experimental neuropsychology

    2012  Volume 34, Issue 7, Page(s) 698–713

    Abstract: The California Verbal Learning Test and structural brain imaging were administered to 57 subjects with schizophrenia spectrum disorders and 94 controls in a general population sample. Cases had lower semantic cluster scores. Poorer verbal memory ... ...

    Abstract The California Verbal Learning Test and structural brain imaging were administered to 57 subjects with schizophrenia spectrum disorders and 94 controls in a general population sample. Cases had lower semantic cluster scores. Poorer verbal memory strategies were associated with longer duration of illness and heavier use of antipsychotic medication. After controlling for duration of illness, sex, and total gray matter, poorer verbal memory was associated with lower gray matter volume in the cingulate cortex, juxtapositional lobule, right superior temporal gyrus, and precuneus. After controlling for use of antipsychotic medication, there was an association between higher serial clustering and smaller anterior cingulate gyrus and larger intracalcarine cortex.
    MeSH term(s) Adult ; Brain/pathology ; Disease Progression ; Female ; Humans ; Image Processing, Computer-Assisted ; Male ; Memory ; Neuroimaging ; Neuropsychological Tests ; Psychiatric Status Rating Scales ; Psychotic Disorders/pathology ; Psychotic Disorders/psychology ; Schizophrenia/pathology ; Schizophrenic Psychology ; Verbal Learning
    Language English
    Publishing date 2012-04-18
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 605982-x
    ISSN 1744-411X ; 0168-8634 ; 1380-3395
    ISSN (online) 1744-411X
    ISSN 0168-8634 ; 1380-3395
    DOI 10.1080/13803395.2012.668875
    Database MEDical Literature Analysis and Retrieval System OnLINE

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