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  1. AU="Kaski, Diego N"
  2. AU="Grillo, Marta"

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  1. Article ; Online: Vestibular loss disrupts visual reactivity in the alpha EEG rhythm.

    Ibitoye, Richard T / Castro, Patricia / Ellmers, Toby J / Kaski, Diego N / Bronstein, Adolfo M

    NeuroImage. Clinical

    2023  Volume 39, Page(s) 103469

    Abstract: The alpha rhythm is a dominant electroencephalographic oscillation relevant to sensory-motor and cognitive function. Alpha oscillations are reactive, being for example enhanced by eye closure, and suppressed following eye opening. The determinants of ... ...

    Abstract The alpha rhythm is a dominant electroencephalographic oscillation relevant to sensory-motor and cognitive function. Alpha oscillations are reactive, being for example enhanced by eye closure, and suppressed following eye opening. The determinants of inter-individual variability in reactivity in the alpha rhythm (e.g. changes with amplitude following eye closure) are not fully understood despite the physiological and clinical applicability of this phenomenon, as indicated by the fact that ageing and neurodegeneration reduce reactivity. Strong interactions between visual and vestibular systems raise the theoretical possibility that the vestibular system plays a role in alpha reactivity. To test this hypothesis, we applied electroencephalography in sitting and standing postures in 15 participants with reduced vestibular function (bilateral vestibulopathy, median age = 70 years, interquartile range = 51-77 years) and 15 age-matched controls. We found participants with reduced vestibular function showed less enhancement of alpha electroencephalography power on eye closure in frontoparietal areas, compared to controls. In participants with reduced vestibular function, video head impulse test gain - as a measure of residual vestibulo-ocular reflex function - correlated with reactivity in alpha power across most of the head. Greater reliance on visual input for spatial orientation ('visual dependence', measured with the rod-and-disc test) correlated with less alpha enhancement on eye closure only in participants with reduced vestibular function, and this was partially moderated by video head impulse test gain. Our results demonstrate for the first time that vestibular function influences alpha reactivity. The results are partly explained by the lack of ascending peripheral vestibular input but also by central reorganisation of processing relevant to visuo-vestibular judgements.
    MeSH term(s) Humans ; Middle Aged ; Aged ; Alpha Rhythm ; Reflex, Vestibulo-Ocular/physiology ; Head Impulse Test ; Bilateral Vestibulopathy ; Electroencephalography
    Language English
    Publishing date 2023-07-11
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2701571-3
    ISSN 2213-1582 ; 2213-1582
    ISSN (online) 2213-1582
    ISSN 2213-1582
    DOI 10.1016/j.nicl.2023.103469
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors.

    Kaski, Diego N / Pennington, Catherine / Beck, Jon / Poulter, Mark / Uphill, James / Bishop, Matthew T / Linehan, Jaqueline M / O'Malley, Catherine / Wadsworth, Jonathan D F / Joiner, Susan / Knight, Richard S G / Ironside, James W / Brandner, Sebastian / Collinge, John / Mead, Simon

    Brain : a journal of neurology

    2011  Volume 134, Issue Pt 6, Page(s) 1829–1838

    Abstract: Genetic factors are implicated in the aetiology of sporadic late-onset neurodegenerative diseases. Whether these genetic variants are predominantly common or rare, and how multiple genetic factors interact with each other to cause disease is poorly ... ...

    Abstract Genetic factors are implicated in the aetiology of sporadic late-onset neurodegenerative diseases. Whether these genetic variants are predominantly common or rare, and how multiple genetic factors interact with each other to cause disease is poorly understood. Inherited prion diseases are highly heterogeneous and may be clinically mistaken for sporadic Creutzfeldt-Jakob disease because of a negative family history. Here we report our investigation of patients from the UK with four extra octapeptide repeats, which suggest that the risk of clinical disease is increased by a combination of the mutation and a susceptibility haplotype on the wild-type chromosome. The predominant clinical syndrome is a progressive cortical dementia with pyramidal signs, myoclonus and cerebellar abnormalities that closely resemble sporadic Creutzfeldt-Jakob disease. Autopsy shows perpendicular deposits of prion protein in the molecular layer of the cerebellum. Identity testing, PRNP microsatellite haplotyping and genealogical work confirm no cryptic close family relationships and suggests multiple progenitor disease haplotypes. All patients were homozygous for methionine at polymorphic codon 129. In addition, at a single nucleotide polymorphism upstream of PRNP thought to confer susceptibility to sporadic Creutzfeldt-Jakob disease (rs1029273), all patients were homozygous for the risk allele (combined P=5.9×10(-5)). The haplotype identified may also be a risk factor in other partially penetrant inherited prion diseases although it does not modify age of onset. Blood expression of PRNP in healthy individuals was modestly higher in carriers of the risk haplotype. These findings may provide a precedent for understanding apparently sporadic neurodegenerative diseases caused by rare high-risk mutations.
    MeSH term(s) Aged ; Aged, 80 and over ; Cerebral Cortex/metabolism ; Cerebral Cortex/pathology ; Chi-Square Distribution ; Cognition Disorders/etiology ; Cognition Disorders/genetics ; Electroencephalography ; Family Health ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Haplotypes ; Humans ; Male ; Middle Aged ; Mutagenesis, Insertional ; Oligopeptides/genetics ; Prion Diseases/complications ; Prion Diseases/diagnostic imaging ; Prion Diseases/genetics ; Prions/genetics ; Prions/metabolism ; Tomography, X-Ray Computed/methods
    Chemical Substances Oligopeptides ; Prions
    Language English
    Publishing date 2011-05-26
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awr079
    Database MEDical Literature Analysis and Retrieval System OnLINE

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