Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Until recently, individuals with premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene were believed to be psychologically unaffected. However, the recent documentation of abnormal elevation of FMR1 mRNA, discovery of fragile X-associated tremor/ataxia syndrome (FXTAS), and reports of psychiatric disorders in children and adults with the premutation have suggested a pathogenic gene-brain-behavior mechanism. In a large collaborative study, 68 men and 144 women with the FMR1 premutation completed a psychological symptoms checklist and FMR1 genetic testing, including determination of CGG repeat size, percentage of FMR1 protein (FMRP)-positive lymphocytes, and FMR1 mRNA levels. Relative to published norms, men and women with FXTAS symptoms reported higher levels of several types of psychological symptoms. In addition, men and women with the premutation and no overt evidence of FXTAS reported higher levels of obsessive-compulsive symptoms. Elevated FMR1 mRNA, but not CGG repeat size or reduced FMRP (as measured by immunocytochemistry), was significantly associated with increased psychological symptoms, predominantly obsessive-compulsive symptoms and psychoticism, in premutation men with and without FXTAS symptoms. There was no relationship between CGG repeat size, FMR1 mRNA or FMRP and psychological symptoms in premutation women unless the sample was restricted to those with skewed X-activation ratio toward >50% active premutation alleles. The results of this study support the hypothesis that FMR1 function is associated with psychological difficulties in individuals with the premutation, and provide evidence concordant with an RNA toxic gain-of-function model in a neuropsychiatric phenotype.
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PMID:Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. 1618 2

The aim of this study was to determine the impact of essential tremor (ET) on quality of life and its relation with tremor severity and the personality profile of ET patients. One hundred and five patients with definite or probable ET from an outpatient population were tested with the Short-Form 36-Item Health Survey (SF36) and the Eysenck Personality Questionnaire (EPQ-R). Compared to controls, the ET patients scored worse in all eight domains of the SF36. The physical component score (PCS) did not differ significantly from the normal population, whereas ET patients older than 40 years were significantly more affected with regard to the mental domains measured by the mental component score (MCS) with their median below the 20th percentile of the German controls. Tremor severity correlated with some of the physical domains and the PCS as well as with social function of the mental domains. ET patients showed significantly lower scores in the psychoticism (P) scale of the EPQ-R, with a median value on the 11th percentile of normal German population, indicating a more tender-minded personality type. The MCS correlated highly significant with the neuroticism (N) scale and extraversion (E) scale of EPQ-R. Multiple regression analysis identified age as the only predictive factor for the PCS and the N-scale as the only predictive factor for the MCS. Although ET is considered a pure movement disorder, the mental components of quality of life are more affected than the physical dimensions. A more controlled personality type may in part contribute to this.
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PMID:Quality of life and personality in essential tremor patients. 1662 51