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Objectives Darier disease is an autosomal dominant skin disorder caused by mutations in the ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ( ATP2A2) gene and previously reported to cosegregate with bipolar disorder and schizophrenia in occasional pedigrees. It is, however, unknown whether these associations exist also in the general population, and the objective of this study was to examine this question. Methods We compared a national sample of individuals with Darier disease and their first-degree relatives with matched unexposed individuals from the general population and their first-degree relatives, respectively. To examine risks for bipolar disorder and schizophrenia, risk ratios and 95% confidence intervals ( CIs) were estimated using conditional logistic regressions. Results Individuals with Darier disease had a 4.3 times higher risk of being diagnosed with bipolar disorder (95% CI: 2.6-7.3) and a 2.3 times higher risk of being diagnosed with schizophrenia (95% CI: 1.1-5.2) than matched individuals from the general population. Relatives of individuals with Darier disease had a 1.6 times higher risk of having bipolar disorder (95% CI: 1.1-2.5) than relatives of matched individuals from the general population, but no increased risk of schizophrenia (risk ratio = 0.8, 95% CI: 0.4-1.8). Conclusions The association between Darier disease and bipolar disorder is manifest also in the population, and our data suggest that genetic variability within the ATP2A2 gene that causes Darier disease also confers susceptibility for bipolar disorder. The Darier-causing mutations merit additional attention in molecular genetic research on bipolar disorder. [ABSTRACT FROM AUTHOR]

Supraspan verbal list learning is widely used to assess dementia and related cognitive disorders where declarative memory deficits are a major clinical sign. While the overall learning rate is important for diagnosis, serial position patterns may give insight into more specific memory processes in patients with cognitive impairment. This study explored these patterns in a memory clinic clientele. One hundred eighty three participants took the Rey Auditory-Verbal Learning Test ( RAVLT). The major groups were patients with Alzheimer's disease ( AD), Vascular Dementia ( VD), Mild Cognitive Impairment ( MCI), and Subjective Cognitive Impairment ( SCI) as well as healthy controls ( HC). Raw scores for the five trials and five serial partitions were factor analysed. Three memory factors were found and interpreted as Primacy, Recency, and Resistance to Interference. AD and MCI patients had impaired scores in all factors. SCI patients were significantly impaired in the Resistance to Interference factor, and in the Recency factor at the first trial. The main conclusion is that serial position data from word list testing reflect specific memory capacities which vary with levels of cognitive impairment. [ABSTRACT FROM AUTHOR]

We describe a case of frontotemporal lobar degeneration with semantic dementia and lower motor neuron disease. A 63-year-old man presented with the full clinical picture of semantic dementia, including semantic anomia, surface alexia, lexical agraphia, associative agnosia, prosopagnosia and phonagnosia. Flaccid dysarthria, bulbar dysphagia and fasciculations developed 7 years after onset, followed by death within a year. The neuropathological examination showed heavy neuronal loss in the anterior temporal lobe cortex, dorsal vagal and hypoglossal nuclei and anterior horns of the spinal cord. Ubiquitin- and TDP-43-positive cytoplasmic inclusions were abundant in layer II of affected cortices and in granular cells of the hippocampal dentate gyrus, whereas dystrophic neurites were sparse and intranuclear inclusions absent. It is concluded that FTLD-TDP type 3 can be associated with semantic dementia and lower motor neuron disease in combination. [ABSTRACT FROM AUTHOR]

The Absentmindedness and Memory Questionnaire (AMQ) is a new self-rating scale designed to evaluate everyday memory problems related to absentmindedness. It includes 24 items and is based on studies of different samples ( N= 623). Its test-retest reliability is high and it has consistently shown similar factor structure. The AMQ thus measures four weakly correlated factors: Absentmindedness, Persons, Locations and Codes/Addresses. Factor analysis further indicates that Absentmindedness may include two subfactors: momentary attention deficit and prospective forgetfulness or impaired agenda memory. Gender differences were found in Persons (Female+) and Locations (Male+) but not in Absentmindedness or Codes/Addresses. The current version of AMQ has seven interindividually comparable response alternatives for each item in the questionnaire. This makes it useful as a measure of subjective absentmindedness or forgetfulness as well as a complementary measure of subjective memory for persons, locations, and codes/addresses/stories, especially at follow-up examinations. [ABSTRACT FROM AUTHOR]

A group of 172 mild cognitive impairment ( MCI) patients and 79 healthy control participants ( HC) were tested on simple reaction time ( SRT). There was a significant difference between MCI and HC in mean SRT. The test could be partitioned into five segments of 16 trials each, but RT's were not always available for each partition. However, scores from each segment for 166 MCI and 41 of the HC's were available. These data showed that a significant interaction between RT-partition and diagnostic category was the main source of the difference between groups. The interaction indicated that MCI patients performed at about the same level as HC in the initial three of the five segments of the test, but were significantly impaired during the last two segments of the 80 trials. The results were interpreted as impaired sustained attention among a large part of the MCI group, and the study shows the importance of taking into account all avaliable data resulting from this type of test. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented about the reliability and validity of the Mini-Mental State Examination in clinical usage.