Browsing by Subject "mood"

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    Ataxin-1 in cognition and mood
    (2017-11) Asher, Melissa
    Ataxin-1 (ATXN1), the gene mutated in spinocerebellar ataxia type 1 (SCA1), may affect cognition and mood, but much remains unknown, including which brain areas are responsible, whether ATXN1 affects mood in mice, and the mechanisms of these effects. To answer these questions, we characterized cognition and mood in several ATXN1 mutant mouse lines: Atxn1+/- and Atxn1-/- mice to compare 50% and 100% loss of ATXN1; Atxn1154Q/2Q and Atxn178Q/2Q mice to compare SCA1-like polyglutamine expansions of different lengths; and Purkinje cell specific Pcp2-ATXN1[82Q] mice to determine the cerebellar contribution. Atxn1-/- and Atxn1154Q/2Q mice showed cognitive deficits. Reduced hippocampal neurogenesis in Atxn1-/- mice may explain this. Cognition was not affected in Atxn1+/-, Atxn178Q/2Q, or Pcp2-ATXN1[82Q] mice. We also observed mood abnormalities not consistent with depression or anxiety. These results provide a foundation for further research into the function of ataxin-1 and the potential side effects of reducing ataxin-1 levels to treat SCA1.
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    Rett Syndrome and HPA Axis Function: A Preliminary Investigation of Salivary Cortisol
    (2014-03) Lacoste, Ameante
    Rett syndrome (RTT) affects mostly females and results from a mutated gene (MECP2), which disrupts the production of a DNA binding protein called MeCP2 critical for neural development. Females with RTT have profound developmental disabilities including communicative and motor impairments and problems related to anxiety and arousal as well as difficulties with sleep, mood, and self-injurious behavior (SIB). It is plausible that perturbations to the neuroendocrine stress-response system (the hypothalamic-pituitary-adrenal [HPA] axis) may be associated with the reported behavioral disturbances in RTT. One approach to evaluating HPA axis integrity involves testing the diurnal pattern of salivary cortisol. In this study, following informed consent, saliva was collected during 2 days (at 4 time points: first wake, mid-morning, mid-afternoon, bedtime) from 22 females with RTT (M age = 13 yrs; 4-27). A questionnaire evaluating participant's sleep, mood, and SIB was completed by caregivers. Eighty percent of the sample had abnormal diurnal patterns and significant correlations were found between abnormal cortisol patterns and parent-reported concerns for SIB and mood. Results suggest that blunted cortisol production is related to HPA dysfunction and increased behavioral concerns.