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Mental Deterioration (mental + deterioration)
Selected AbstractsThe neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations,HUMAN MUTATION, Issue 3 2010Mia-Lisa Schmiedt Abstract Neuronal ceroid lipofuscinoses (NCLs) represent a group of children's inherited neurodegenerative disorders caused by mutations in at least eight different genes. Mutations in the CLN5 gene result in the Finnish variant late infantile NCL characterized by gradual loss of vision, epileptic seizures, and mental deterioration. The CLN5 gene encodes a lysosomal glycoprotein of unidentified function. In this study, we have used both transient and stable expression systems for the characterization of CLN5, focusing on the localization, processing, and intracellular trafficking. We show that CLN5 is proteolytically cleaved, and that the mature polypeptide is transported to the lysosomes. Our data provide the first evidence that soluble CLN5 protein can also undergo mannose-6-phosphate receptor-independent trafficking to the lysosomes. We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells. All analyzed disease mutations disturb the lysosomal trafficking of the mutated CLN5 proteins. The level of lysosomal targeting does not correlate, however, to disease onset, indicating that CLN5 may also function outside lysosomes. This study furthers our understanding of the basic properties of the CLN5 protein, necessary for the characterization of the consequences of disease mutations and for the planning of future therapies for vLINCL. Hum Mutat 31:356,365, 2010. © 2010 Wiley-Liss, Inc. [source] Subjective cognitive complaints, neuropsychological performance, affective and behavioural symptoms in non-demented patientsINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 1 2008Roberto Gallassi Abstract Objective Subjective cognitive complaints (SCC) have been previously investigated to establish whether they are risk factors for dementia, but no clear-cut conclusions have emerged. In this study non-demented patients with SCC were studied and the neuropsychological findings, affective and behavioural aspects and parameters with the highest correct classifications in discriminating patients who had only SCC but no objective clinical and neuropsychological impairment, i.e. no cognitive impairment (NCI) patients and those with objective neuropsychological deficits, namely patients with mild cognitive (MCI) were analyzed. Methods Consecutive non-demented outpatients with SCC were enrolled of over 9 months and examined using neuropsychological tests and scales for depression, anxiety and behaviour. Clinical criteria and neuropsychological test results were used to classify patients into groups of NCI, MCI and subtypes of MCI. Results Ninety-two patients with SCC were included; 49 of them had objective deficits (MCI patients), whereas 43 were without any clinical and cognitive impairment (NCI patients). These patients had lower age, higher education and better general cognitive indices than MCI patients who had higher caregiver distress, depression and irritability. The combination of a battery for mental deterioration and for behavioural memory assessment were the most discriminative in differentiating the two groups. Conclusions An objective cognitive impairment, reaching the criteria for a MCI diagnosis, was present in almost half of patients having SCC. MCI patients have more behavioural disturbances than NCI subjects. SCC should not be underestimated and appropriate neuropsychological assessment is required to reassure subjects with normal results and to identify patients with MCI. Copyright © 2007 John Wiley & Sons, Ltd. [source] The association between depressive symptoms and cognitive decline in community-dwelling elderly personsINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 4 2001Hannie C. Comijs Abstract Objective To investigate whether depressive symptoms predict specific types of cognitive decline in order to elucidate the association between late life depression and cognitive decline. Background Mechanisms underlying the association between late life depression and cognitive decline are still unclear. Method Six hundred and forty-one elderly persons of the Longitudinal Aging Study Amsterdam (LASA) aged 70,85 were examined by means of two measurement occasions over a period of 3 years. Depressive symptoms were assessed by means of the CES-D. Various cognitive functions were examined using neuropsychological tests. Results Depressive symptoms were associated with decline in speed of information processing over a 3-year period, whereas there was no association between depression and increasing memory impairment or global mental deterioration. Conclusion These findings suggest that depressive symptoms are associated with subcortical pathology, most probable white matter lesions. Copyright © 2001 John Wiley & Sons, Ltd. [source] De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspringJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 1 2001CH Ko Abstract: A 14-year-old Chinese boy with a normal perinatal and early developmental history presented at 5 years of age with migraine, intractable epilepsy, ataxia, supraventricular tachycardia, paralytic ileus and progressive mental deterioration. Computerized tomography revealed multiple cerebral infarcts in the parieto-occipital region without basal ganglial calcification. Magnetic resonance imaging showed increased signal intensity in T2 weighted images in the same regions. A cerebral digital subtraction angiogram was normal. Venous lactate, pyruvate, lactate to pyruvate ratio and cerebrospinal fluid lactate were elevated. Muscle biopsy did not reveal any ragged red fibres; dinucleotide,tetrazolium reductase activity was normal. Mitochondrial DNA analysis detected an adenine to guanine mutation at nucleotide position 3243 of tRNALeu(UUR). All four tissues analysed demonstrated heteroplasmy: leucocyte 56%, hair follicle 70%; buccal cell 64%; muscle 54%. The mother and brother of the proband, both asymptomatic, were also found to have a heteroplasmic A3243G mutation in the leucocytes, hair follicle and buccal cells. Other members of the maternal lineage, including the maternal grandmother, did not have the mutation. This report describes a patient with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, who presented with multisystem involvement. The absence of ragged red fibres in muscle biopsy did not preclude the diagnosis. Mutational analysis of mitochodrial DNA conveniently confirmed the diagnosis of the disorder. A de novo mutaton is demonstrated in this family. [source] Awareness of early warning signs and help-seeking behaviours among patients with schizophrenia who utilize social rehabilitation facilities in JapanJOURNAL OF PSYCHIATRIC & MENTAL HEALTH NURSING, Issue 8 2009R. KOICHI rn phn ms Accessible summary ,,Schizophrenia is characterized by the occurrence of psychotic relapses. When this happens, early warning signs such as delusions, hallucinations, thought incoherencies and serious chaotic behaviours occur. ,,In this study, 56.5% of participants who had a history at least one early help-seeking behaviour when they deteriorated was recognized from the following signs: sleep disorders, depression, hallucinations, nervousness, anxiety, fatigue, delusions, illusions and suicidal ideation. ,,Early help-seeking behaviours were related to the following factors: recognition of early warning signs during deterioration, consultation with non-professional and professional support persons during deterioration; consulting with public mental health workers; and living with family. Abstract The purpose of this study was to examine the relationship between early warning signs (EWS) and early help-seeking behaviours (HSB) and to identify the characteristics of patients with schizophrenia who sought early help. A cross-sectional study was carried out in 2004 using a self-reported questionnaire. Participants were recruited from social rehabilitation facilities for the mentally ill; 224 subjects participated, 170 of whom had schizophrenia. The survey included questions about demographic characteristics, self-care behaviours (HSB, recognition of EWS and others) and current service utilization and satisfaction. Fisher's exact test and Student's t -test were used to compare the characteristics of study participants. Logistic regression analyses were used to examine the association between recognition of EWS and early HSB. We found that 96 (56.5%) of 170 patients with schizophrenia reported at least one occasion of early HSB during their deterioration. Early HSB were related to the following factors: recognition of EWS, consultation with non-professional and professional support persons during deterioration, consulting with public mental health workers and living with family. Care and support should be offered to patients with schizophrenia to enable them to recognize their own mental deterioration. [source] | ||||||||||