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BACKGROUND AND PURPOSE: Impaired dexterity (fine hand movements) is often present in Parkinson's disease (PD), even at early to moderate disease stages. It has a detrimental impact on activities of daily living (ADL) such as buttoning, contributing to reduced quality of life. Limb-kinetic apraxia, a loss of the ability to make precise, independent but coordinated finger and hand movements, may contribute to impaired dexterity even more than bradykinesia per se. However, the impact of limb-kinetic apraxia on ADL remains controversial. Our aim was to identify the strongest predictor of buttoning and unbuttoning in PD. It was hypothesized that coin rotation (a surrogate of limb-kinetic apraxia) represents the most important determinant. METHODS: Sixty-four right-handed, early to moderate PD patients were recruited from three movement disorder centers (Hoehn andYahr stages 1-3). Buttoning, unbuttoning and coin rotation (right and left hand) represented the target tasks. Motor impairment was assessed according to the Unified Parkinson's Disease Rating Scale. RESULTS: Multiple linear regression analysis showed that coin rotation with the right hand was the only significant predictor of buttoning (P < 0.001) and unbuttoning (P = 0.002). Notably, measures of bradykinesia or overall motor impairment did not represent significant predictors. CONCLUSIONS: Constituting the novel key finding, limb-kinetic apraxia seems to be particularly relevant for ADL requiring dexterity skills in PD, even at early to moderate disease stages. Our results prompt research into the pathophysiological background and therapeutic options to treat limb-kinetic apraxia. The simple coin rotation test provides valuable information about ADL-related dexterity skills.
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Atividades Cotidianas , Apraxia Ideomotora/fisiopatologia , Destreza Motora/fisiologia , Doença de Parkinson/fisiopatologia , Adulto , Idoso , Feminino , Mãos/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de VidaRESUMO
BACKGROUND: Recently, mutations in the filaggrin gene (FLG) have been shown to be a major predisposing factor for atopic dermatitis (AD). OBJECTIVE: In this study, we evaluated the influence of four prevalent mutations (R501X, 2282del4, R2447X and S3247X) in a large cohort of 462 Austrian and German AD patients and in 402 control individuals. RESULTS: We found a strong association of the FLG mutations with AD. Subgroup analysis revealed a significantly higher proportion of patients with an early age of disease onset and significantly higher median serum IgE levels among mutation carriers. Furthermore, we observed an overrepresentation of null alleles in AD patients with concomitant asthma compared with those without this co-morbidity. CONCLUSION: Our data confirm and extend the knowledge of the influence of FLG mutations in AD.
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Dermatite Atópica/genética , Proteínas de Filamentos Intermediários/genética , Mutação , Adulto , Áustria , Estudos de Coortes , Feminino , Proteínas Filagrinas , Alemanha , Humanos , MasculinoRESUMO
PURPOSE OF THE STUDY: In this study the relevance of sense of coherence (SOC) for coping with an illness was examined in subjects with Parkinson's disease. According to Antonovsky's model (1997) the sense of coherence is an important resource when it comes to dealing with stressors. To take into consideration the integrated view of Parkinson patients, severity of the illness (UPDRS) was determined by the neurologist and tendency toward depression was recorded. METHOD: 51 patients with PD (mean age: 67.7; 43.1% female; 56.9% male) and 59 volunteers without any neurological illness (mean age: 65.7; 54.2% female; 45.8% male) took part in this study. The sample was recruited from the Neurological Department of the Medical University of Vienna. This quasi-experimental sample was assessed with standardized self-assessment questionnaires: FKV-LIS-SE, SOC-Scale and GDS. Correlations, t-tests, U-tests, multivariate analyses of variance and linear regressions were used for calculation. RESULTS: Persons with PD were characterized by lower SOC (p<.01) and higher scores on depression (p<.01), compared to persons of the control group. Parkinson patients tend to use depressive and minimizing coping strategies (p<.01). In addition the study indicates an influence of SOC and tendency toward depression on coping (R(2)=0.43). Sense of coherence and coping strategies are independent of severity of illness, but there is a significant association between the duration of illness and active-problem focused coping. CONCLUSION: In general, sense of coherence correlates only with psychological variables, and not with physical variables. Results indicate the importance of SOC on effective coping. Therefore strengthening of SOC is important, especially in context with chronic neurological illness. Individual orientated analysis of resources should be implemented in every counselling interview, so that possibilities for activities of daily living and leisure can be developed.
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Doença de Parkinson/psicologia , Doença de Parkinson/reabilitação , Adaptação Psicológica , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Resiliência PsicológicaRESUMO
BACKGROUND: Functional tremors can be diagnosed based on clinical and physiologic criteria such as entrainment, suggestibility, distractibility, variable nature with the associated clinical history of psychosomatic co-morbidities. The current case report highlights the underrecognized utility of neurophysiology in the correct diagnosis of tremors, providing useful clinical and neurophysiologic insights into clinical and physiological assessment of tremors. CASE REPORT: A 62-year-old woman with a past medical history of polio was referred by a movement disorders neurologist for evaluation of tremor with concerns of a likely functional etiology. On first assessment there were findings notable for a possible organic etiology, but upon subsequent evaluation the tremor was noted to be variable and entrainable, suggestive of a functional etiology. Neurophysiological tremor study could identify an underlying organic tremor (likely of multi-factorial etiology). Tremor entrainment with contralateral hand tapping could be mirror movements or functional movements, as the underlying organic tremor was not entrained. The amplitude of mirrored movement was commensurate with the tapping amplitude. DISCUSSION: Functional tremors may mask an underlying organic tremor. Additionally, motor overflow which may happen especially with large amplitude movements may masquerade as mirror movements, which can be difficult to differentiate from an entrained functional tremor. Objective physiology and refinement of the current clinical and physiologic tremor evaluation techniques may help identify an underlying organic etiology.
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Impairment of hand dexterity in Parkinson's disease (PD) is usually attributed to bradykinesia. Recently, behavioral studies illustrated that decreased dexterity might also be due to limb-kinetic apraxia (LkA), as demonstrated by impaired performance in a coin rotation task. Here, we provide a first investigation on whether functional magnetic resonance imaging (fMRI) may reveal specific brain activation patterns for PD patients with impaired performance in a coin rotation task. We compared coin rotation as an apraxia task to simple finger tapping as a bradykinesia task in ten PD patients OFF medication and matched healthy controls. In addition to a tendency for general overactivation, PD patients showed a perirolandic dissociation with precentral overactivation and postcentral underactivation. This finding significantly separated PD patients from healthy controls.
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Apraxias/fisiopatologia , Encéfalo/fisiopatologia , Imageamento por Ressonância Magnética , Doença de Parkinson/fisiopatologia , Idoso , Mapeamento Encefálico , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Movimento , Doença de Parkinson/tratamento farmacológico , Desempenho Psicomotor/fisiologiaRESUMO
BACKGROUND: Families associated with missense mutations in the valosin-containing protein (VCP) present with a rare autosomal dominant multisystem disorder of frontotemporal lobar degeneration (FTLD), inclusion body myopathy (IBM), and Paget disease of bone (PDB), referred to as IBMPFD. METHODS: We used exon-based genomic DNA sequencing to test for VCP mutations in 123 unrelated Belgian patients with FTLD and their relatives, and the absence of such mutations in 157 control individuals. We analyzed haplotype sharing among mutation carriers by genotyping 8 microsatellite markers in the VCP locus. We obtained family history and clinical and pathologic data using established diagnostic instruments. RESULTS: Mutation analysis of VCP identified 2 Belgian patients with FTLD carrying the p.Arg159His mutation, which segregated in their families. In one family, patients presented with FTLD only, whereas in the other family, patients developed FTLD, PDB, or both without signs of IBM for any of the mutation carriers. We had previously identified p.Arg159His in an Austrian family with patients exhibiting both IBM and PDB. Haplotype sharing analysis indicated that the 3 p.Arg159His families are unrelated. Clinical follow-up of the Austrian family identified dementia symptoms in 1 patient. Autopsy data of 3 patients of the 2 Belgian families revealed FTLD pathology with numerous ubiquitin-immunoreactive, intranuclear inclusions and dystrophic neurites staining positive for TDP-43 protein. CONCLUSIONS: In 3 unrelated families with IBMPFD segregating VCP p.Arg159His, we observed a high degree of clinical heterogeneity and variable penetrance of the 3 cardinal clinical phenotypes: inclusion body myopathy, Paget disease of bone, and frontotemporal lobar degeneration. In contrast, the neuropathologic phenotype was consistent with FTLD-TDP type 4.
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Adenosina Trifosfatases/genética , Arginina/genética , Proteínas de Ciclo Celular/genética , Heterogeneidade Genética , Histidina/genética , Idoso , Idoso de 80 Anos ou mais , Demência/diagnóstico , Demência/genética , Feminino , Seguimentos , Ligação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto/genética , Miosite de Corpos de Inclusão/diagnóstico , Miosite de Corpos de Inclusão/genética , Osteíte Deformante/diagnóstico , Osteíte Deformante/genética , Linhagem , Penetrância , Estudos Prospectivos , Proteína com ValosinaRESUMO
Mutations in the valosin-containing protein (VCP) on chromosome 9p13-p12 were recently found to be associated with hereditary inclusion body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD). We identified a novel missense mutation in the VCP gene (R159H; 688G>A) segregating with this disease in an Austrian family of four affected siblings, who exhibited progressive proximal myopathy and Paget disease of the bone but without clinical signs of dementia.