ABSTRACT
BACKGROUND AND PURPOSE: Symptoms and signs in patients with Huntington's disease are usually assessed with the Unified Huntington's Disease Rating Scale (UHDRS). Ceiling and floor effects hamper the measurement of disease progression in patients with late stage Huntington's disease and therefore the UHDRS-For Advanced Patients (UHDRS-FAP) has been developed. The aim of this longitudinal study was to examine if the UHDRS-FAP and UHDRS are sensitive enough to detect change over time in late stage Huntington's disease. METHODS: Forty nursing home residents and patients receiving day-care were assessed with the UHDRS, UHDRS-FAP and Care Dependency Scale (CDS). After 6 months, the assessment scales were completed again in 29 patients. Changes between baseline and follow-up were calculated using paired t tests. Wilcoxon signed-rank tests were used to calculate longitudinal changes for middle and late stage patients separately. RESULTS: The motor and cognitive score of the UHDRS-FAP deteriorated during 6 months' follow-up, whilst the motor and cognitive score of the UHDRS did not show change. Two functional domains of the UHDRS and the CDS also declined. The behavioral score significantly improved with both rating scales in late stage patients. CONCLUSIONS: Our results suggest that the UHDRS-FAP motor and cognitive score, the functional domains of the UHDRS, and the CDS can detect disease progression in late stage Huntington's disease. Therefore, the use of these scores in nursing homes is recommended to optimize care by monitoring disease progression and by evaluating the effect of interventions in clinical care. Psychiatric symptoms seem to fade away as the disease progresses.
Subject(s)
Huntington Disease/diagnosis , Adult , Aged , Behavior , Cognition , Disease Progression , Female , Humans , Huntington Disease/psychology , Longitudinal Studies , Male , Mental Disorders/etiology , Mental Disorders/psychology , Middle Aged , Neuropsychological Tests , Predictive Value of Tests , Psychomotor Performance , Reproducibility of Results , Sensitivity and SpecificityABSTRACT
Depression is one of the most prevalent and debilitating psychiatric disorders worldwide. Recently, we showed that both relatively short and relatively long cytosine-adenine-guanine (CAG) repeats in the huntingtin gene (HTT) are associated with an increased risk of lifetime depression. However, to what extent the variations in CAG repeat length in the other eight polyglutamine disease-associated genes (PDAGs) are associated with depression is still unknown. We determined the CAG repeat sizes of ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and AR in two well-characterized Dutch cohorts-the Netherlands Study of Depression and Anxiety and the Netherlands Study of Depression in Older Persons-including 2165 depressed and 1058 non-depressed individuals-aged 18-93 years. The association between PDAG CAG repeat size and the risk for depression was assessed via binary logistic regression. We found that the odds ratio (OR) for lifetime depression was significantly higher for individuals with >10, compared with subjects with ≤10, CAG repeats in both ATXN7 alleles (OR=1.90, confidence interval (CI) 1.26-2.85). For TBP we found a similar association: A CAG repeat length exceeding the median in both alleles was associated with an increased risk for lifetime depression (OR=1.33, CI 1.00-1.76). In conclusion, we observed that carriers of either ATXN7 or TBP alleles with relatively large CAG repeat sizes in both alleles had a substantially increased risk of lifetime depression. Our findings provide critical evidence for the notion that repeat polymorphisms can act as complex genetic modifiers of depression.
Subject(s)
Ataxin-7/genetics , Genetic Predisposition to Disease , TATA-Box Binding Protein/genetics , Trinucleotide Repeats , Adolescent , Adult , Aged , Aged, 80 and over , Alleles , Ataxins/genetics , Calcium Channels/genetics , Case-Control Studies , Depressive Disorder/genetics , Female , Humans , Male , Middle Aged , Nerve Tissue Proteins/genetics , Polymorphism, Genetic , Receptors, Androgen/genetics , Young AdultABSTRACT
The structure of a proprioceptor in the lateral hypodermal chords of Deontostoma californicum has been studied by light and electron microscopy. It is comprised of a sensory cell provided with a cilium situated in a terminal invagination. An accompanying dendrite forms a synaptic junction at the distal end of the sensory cell. This is the first fine structural description of this proprioceptor in the Enoplida.
Subject(s)
Nematoda/ultrastructure , Sensory Receptor Cells/ultrastructure , Animals , Cell Membrane/ultrastructure , Cilia/ultrastructure , Cytoplasm/ultrastructure , Dendrites/ultrastructure , Microscopy, Electron , Microtubules/ultrastructure , Organoids/ultrastructure , Synapses/ultrastructureABSTRACT
The existence of a symbiotic association between vestimentiferan tube worms from deep-sea hydrothermal vents and chemoautotrophic sulfur-oxidizing prokaryotes, based on histological and enzymatic evidence, is suggested.
ABSTRACT
Rudimentary cilia have been observed in muscle cells lining the tube feet of Ophioderma brevispinum (Ophiuroidea) and in muscle cells of the body wall and parapodial glands of Owena fusiformis (Polychaeta). A diplosomal basal body is associated with each cilium. Striated rootlets are absent. This is the first report on rudimentary cilia in muscle cells of an echinoderm and an annelid.
