当前位置： SCI文献检索 > EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE期刊下所有文献 > Early-onset Alzheimer's disease due to mutations of the presenilin-1 gene on chromosome 14: a 7-year follow-up of a patient with a mutation at codon 139.

Early-onset Alzheimer's disease due to mutations of the presenilin-1 gene on chromosome 14: a 7-year follow-up of a patient with a mutation at codon 139.

Abstract：

:Mutations in the presenilin-1 gene (PS-1 gene) on chromosome 14 have recently been identified as a cause of familial early-onset Alzheimer's disease (EOAD). To our knowledge, only two German EOAD patients with mutations in the PS-1 gene have been identified thus far. Herein we report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 139 (M139V) of the PS-1 gene. The patient came to our clinic for the first time when he was 44 years old. During the following 7 years, his Mini-Mental State Examination (MMSE) score dropped from 24 to 0. Myocloni were an early neurological symptom that was already present during the first consultation. We could demonstrate that myoclonic activity was of cortical origin using a back-averaging method. Magnetic resonance imaging (MRI) revealed only slight changes in the early stage of the disease. Follow-up MRI studies showed progression of bitemporal ventricular enlargement and progressive frontal and temporal cortical atrophy. Although the majority of EOAD patients belong to the sporadic (non-genetic) type of AD, early-onset dementia, early myocloni and a familial history of AD should direct attention to the possibility of a genetic form of AD.

journal_name

Eur Arch Psychiatry Clin Neurosci

journal_title

European archives of psychiatry and clinical neuroscience

authors

Hüll M,Fiebich BL,Dykierek P,Schmidtke K,Nitzsche E,Orszagh M,Deuschl G,Moser E,Schumacher M,Lücking C,Berger M,Bauer J

doi

10.1007/s004060050028

subject

Has Abstract

pub_date

1998-01-01 00:00:00

pages

123-9

issue

3

eissn

0940-1334

issn

1433-8491

journal_volume

248

pub_type

杂志文章

相关文献

EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE文献大全
  • Neuroleptic treatment increases soluble IL-2 receptors and decreases soluble IL-6 receptors in schizophrenia.

    abstract：:The cytokines interleukin-2 (IL-2) and interleukin-6 (IL-6) increase during immune activation, they are released from activated astrocytes and microglial cells in the central nervous system (CNS), and they are able to enhance the catecholaminergic neurotransmission. This study focused on the soluble receptors of IL-2 ...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 临床试验,杂志文章

    doi：10.1007/BF02922260

    authors： Müller N,Empl M,Riedel M,Schwarz M,Ackenheil M

    更新日期：1997-01-01 00:00:00

  • The German guidelines for the treatment of anxiety disorders.

    abstract：:A consensus group consisting of 36 experts representing 20 leading German specialist societies and patient self-help organizations developed evidence-based recommendations for the treatment of anxiety disorders in Germany. These were based on a systematic review of randomized controlled trials on anxiety disorders (n ...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章,评审

    doi：10.1007/s00406-014-0563-z

    authors： Bandelow B,Lichte T,Rudolf S,Wiltink J,Beutel ME

    更新日期：2015-08-01 00:00:00

  • Twin-based study of the complex interplay between childhood maltreatment, socioeconomic status and adult memory.

    abstract：:Childhood maltreatment and low socioeconomic status (SES) are considered stressful environmental events with lasting detrimental effects on adult mental health and associated cognitive performance, such as memory. However, the association between childhood maltreatment and low SES remains unclear, probably due to desi...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-012-0382-z

    authors： Goldberg X,Alemany S,Fatjó-Vilas M,González-Ortega I,González-Pinto A,Cuesta MJ,Fañanás L

    更新日期：2013-08-01 00:00:00

  • Adjunctive valproate in panic disorder patients with comorbid bipolar disorder or otherwise resistant to standard antidepressants: a 3-year "open" follow-up study.

    abstract：:The aim of the study was to report on the clinical utility of naturalistic adjunctive treatment with valproate (VPA) in a group of panic disorder (PD) patients with comorbid bipolar disorder (BD) or otherwise resistant to antidepressants. The hypothesis was that these patients might not respond because of coexisting l...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-010-0109-y

    authors： Perugi G,Frare F,Toni C,Tusini G,Vannucchi G,Akiskal HS

    更新日期：2010-10-01 00:00:00

  • Cognitive predictors of skill acquisition on social problem solving in patients with schizophrenia.

    abstract：:The aim of the study was to evaluate the relationship between social problem solving ability, clinical features and cognitive functions, and determine the predictors of benefit from social problem solving training in 63 patients with schizophrenia. We administered Brief Psychiatric Rating Scale (BPRS), Wisconsin Card ...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章,随机对照试验

    doi：10.1007/s00406-006-0651-9

    authors： Uçok A,Cakir S,Duman ZC,Dişcigil A,Kandemir P,Atli H

    更新日期：2006-09-01 00:00:00

  • Substance P-like immunoreactivity and somatostatin-like immunoreactivity in the ventricular fluid of patients with chronic pain syndromes.

    abstract：:Substance P-like and somatostatin-like immunoreactivities (SPLI and SLI) were determined in ventricular fluid of patients with chronic pain syndromes and in a comparison group with multiple sclerosis, essential tremor, epilepsy and postanoxic myoclonus. Concentrations of SPLI and SLI were non-significantly decreased b...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/BF02191152

    authors： Jost S,Reuner C,Geiger J,Mohadjer M,Milios E,Cramer H

    更新日期：1991-01-01 00:00:00

  • Homeless people at disadvantage in mental health services.

    abstract：OBJECTIVE:The aims of this study are threefold: to depict characteristics of homeless at discharge from a psychiatric hospital; to describe the utilisation of inpatient care and treatment measures during hospitalisation; and to analyse to what extent psychiatric disorders and clinical variables contribute to the risk f...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-005-0616-4

    authors： Lauber C,Lay B,Rössler W

    更新日期：2006-04-01 00:00:00

  • Human CLOCK gene-associated attention deficit hyperactivity disorder-related features in healthy adults: quantitative association study using Wender Utah Rating Scale.

    abstract：:Circadian rhythm disturbance is highly prevalent in attention deficit hyperactivity disorder (ADHD). Recently, the association between the CLOCK gene and ADHD has been demonstrated in clinical samples, and the CLOCK gene's role was thought to be mediated by rhythm dysregulation. Meanwhile, ADHD has been suggested as t...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-013-0443-y

    authors： Jeong SH,Yu JC,Lee CH,Choi KS,Choi JE,Kim SH,Joo EJ

    更新日期：2014-02-01 00:00:00

  • Obsessional personality features in employed Japanese adults with a lifetime history of depression: assessment by the Munich Personality Test (MPT).

    abstract：BACKGROUND:Although a number of studies have reported on the association between obsessional personality features as measured by the Munich Personality Test (MPT) "Rigidity" scale and depression, there has been no examination of these relationships in a non-clinical sample. METHODS:The dimensional scores on the MPT we...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s004060170043

    authors： Sakado K,Sakado M,Seki T,Kuwabara H,Kojima M,Sato T,Someya T

    更新日期：2001-06-01 00:00:00

  • Platelet imipramine binding in intensive care unit suicidal patients.

    abstract：:3H-Imipramine binding in relation to serotonergic function was studied in patients hospitalized following a suicide attempt. Comparison with a control group showed a highly significant difference in Bmax values. The results suggest, at least a posteriori, a biological alteration as the basis of suicidal behaviour. Alt...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/BF02191146

    authors： De Leo D,Caneva A,Marazziti D,Conti L

    更新日期：1991-01-01 00:00:00

  • Episodic course in obsessive-compulsive disorder.

    abstract：:The course of obsessive-compulsive disorder (OCD) is variable, ranging from episodic to chronic. We hypothesised that the former course is more likely to be related to bipolar mood disorders. With the use of a specially constructed OCD questionnaire, we studied 135 patients fulfilling DSM-III-R criteria for OCD with a...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s004060050044

    authors： Perugi G,Akiskal HS,Gemignani A,Pfanner C,Presta S,Milanfranchi A,Lensi P,Ravagli S,Maremmani I,Cassano GB

    更新日期：1998-01-01 00:00:00

  • Symptom changes in five dimensions of the Positive and Negative Syndrome Scale in refractory psychosis.

    abstract：:Refractory psychosis units currently have little information regarding which symptoms profiles should be expected to respond to treatment. In the current study, we provide this information using structural equation modeling of Positive and Negative Syndrome Scale (PANSS) ratings at admission and discharge on a sample ...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-013-0460-x

    authors： Woodward TS,Jung K,Smith GN,Hwang H,Barr AM,Procyshyn RM,Flynn SW,van der Gaag M,Honer WG

    更新日期：2014-12-01 00:00:00

  • The early course of schizophrenia and depression*.

    abstract：OBJECTIVE:Risk factors, emergence and accumulation of symptoms in the untreated early course were studied as a basis for understanding the relationship between schizophrenia and depression. MATERIALS AND METHODS:130 representative first admissions for schizophrenia were compared retrospectively with 130 individually m...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-005-0584-8

    authors： Häfner H,Maurer K,Trendler G,an der Heiden W,Schmidt M

    更新日期：2005-06-01 00:00:00

  • Prevalence of affective disorders and dementia in inflammatory polyarthropathies.

    abstract：:Comorbid disorders are common in psychiatric diseases and understanding the risk of secondary diseases can aid successful clinical treatment. The objective of this study was to compare the frequency of comorbid dementia, affective disorders, and inflammatory polyarthropathies. Healthcare data obtained via the German H...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-019-01015-y

    authors： Vogelgsang J,Heßmann P,Wolff-Menzler C,Gyßer S,Müller GA,Wiltfang J

    更新日期：2020-03-01 00:00:00

  • Neurocognitive functioning in patients with first-episode schizophrenia : results of a prospective 5-year follow-up study.

    abstract：:To assess the course of neuropsychological (NP) impairment in schizophrenia, 71 patients with first episode (FE) schizophrenia and 71 healthy controls were given a comprehensive battery of NP tests at index assessment, after a 2-year and after a 5-year follow-up period. By means of the z-score standardization, summary...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-006-0667-1

    authors： Albus M,Hubmann W,Mohr F,Hecht S,Hinterberger-Weber P,Seitz NN,Küchenhoff H

    更新日期：2006-10-01 00:00:00

  • Nocturnal sleep EEG in patients with HIV infection.

    abstract：:Nocturnal sleep was studied in 14 human immunodeficiency virus (HIV)-positive patients without opportunistic infections of the central nervous system. Seven patients had no bodily complaints at the time of the investigation. Patients exhibited an impaired nocturnal sleep with longer sleep onset latency, reduced total ...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/BF02190756

    authors： Wiegand M,Möller AA,Schreiber W,Krieg JC,Fuchs D,Wachter H,Holsboer F

    更新日期：1991-01-01 00:00:00

  • Postmortem proteomic analysis in human amygdala of drug addicts: possible impact of tubulin on drug-abusing behavior.

    abstract：:Besides the ventral tegmental area and the nucleus accumbens as the most investigated brain reward structures, several reports about the relation between volume and activity of the amygdala and drug-seeking behavior have emphasized the central role of the amygdala in the etiology of addiction. Considering its proposed...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-010-0129-7

    authors： Zill P,Vielsmeier V,Büttner A,Eisenmenger W,Siedler F,Scheffer B,Möller HJ,Bondy B

    更新日期：2011-03-01 00:00:00

  • Cannabis use influence on peripheral brain-derived neurotrophic factor levels in antipsychotic-naïve first-episode psychosis.

    abstract：:The objective of this study is to determine whether cannabis influences BDNF levels in patients with psychosis (FEP) and healthy volunteers (HV) to help understand the role of BDNF in psychosis. We assessed the association between BDNF and cannabis in a cohort of FEP antipsychotic-naïve patients and HV, whilst control...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-020-01117-y

    authors： Toll A,Bergé D,Burling K,Scoriels L,Treen D,Monserrat C,Marmol F,Duran X,Jones PB,Pérez-Solà V,Fernandez-Egea E,Mané A

    更新日期：2020-10-01 00:00:00

  • Avoidance behaviour: a predictor of the efficacy of pharmacotherapy in panic disorder?

    abstract：:The impact of the avoidance behaviour on the psychopharmacological treatment of panic disorder was explored in the Cross National Collaborative Panic Study (n = 1134 patients); in this double blind randomized trial alprazolam, imipramine and placebo were compared during an 8-week treatment period. Patients with extens...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 临床试验,杂志文章,多中心研究,随机对照试验

    doi：10.1007/BF02219714

    authors： Maier W,Roth SM,Argyle N,Buller R,Lavori P,Brandon S,Benkert O

    更新日期：1991-01-01 00:00:00

  • CSF levels of diazepam-binding inhibitor correlate with REM latency in schizophrenia, a pilot study.

    abstract：:CSF diazepam-binding inhibitor-like immunoreactivity (DBI-LI) and polysomnography were studied in 28 drug-free male schizophrenic (DSM-III-R) patients. They underwent a three-night polysomnography evaluation and a lumbar puncture. CSF DBI-LI correlated positively with REM latency, the REM latency/2d nonREM period rati...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/BF02190401

    authors： van Kammen DP,Guidotti A,Neylan T,Guarneri P,Kelley ME,Gurklis J,Gilbertson MW,Peters JL,Costa E

    更新日期：1994-01-01 00:00:00

  • Critical trial-related criteria in acute schizophrenia studies.

    abstract：:The Trial Criteria in Schizophrenia Working Group was convened in November 2007 to define consensus criteria for clinical trials in patients suffering from acute schizophrenia with special focus on placebo-controlled trials and withdrawal conditions. Clinical trials involving patients give rise to ethical and medico-l...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-011-0225-3

    authors： Riedel M,Leucht S,Rüther E,Schmauß M,Möller HJ

    更新日期：2012-03-01 00:00:00

  • Symptom provocation and reduction in patients suffering from spider phobia: an fMRI study on exposure therapy.

    abstract：:Neurofunctional mechanisms underlying cognitive behavior therapy (CBT) are still not clearly understood. This functional magnetic resonance imaging (fMRI) study focused on changes in brain activation as a result of one-session CBT in patients suffering from spider phobia. Twenty-six female spider phobics and 25 non-ph...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章,随机对照试验

    doi：10.1007/s00406-007-0754-y

    authors： Schienle A,Schäfer A,Hermann A,Rohrmann S,Vaitl D

    更新日期：2007-12-01 00:00:00

  • Neuropsychological performance in partly remitted unipolar depressive patients: focus on executive functioning.

    abstract：BACKGROUND:Only few studies have investigated executive impairment in the euthymic phase of unipolar affective disorders, yielding diverging results. The role of impulsivity/orbitofrontal associated executive functioning in remitted depression has not yet been examined. METHODS:Partly remitted male out-patients (n = 1...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-007-0740-4

    authors： Westheide J,Wagner M,Quednow BB,Hoppe C,Cooper-Mahkorn D,Strater B,Maier W,Kuhn KU

    更新日期：2007-10-01 00:00:00

  • Psychopathology in dual diagnosis and non-addicted schizophrenics--are there differences?

    abstract：:In a previous publication we reported lifetime and 3-month prevalence estimates for substance use in two large samples of schizophrenic inpatients (Soyka et al. 1993). A subsequent analysis of psychopathological findings assessed by means of the AMDP Manual (Guy and Ban 1982) in schizophrenic in-patients of the Haar M...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s004060170032

    authors： Soyka M,Albus M,Immler B,Kathmann N,Hippius H

    更新日期：2001-10-01 00:00:00

  • Religious affiliation and psychiatric diagnosis: the influence of Christian sect membership on diagnosis distribution.

    abstract：:Minority religions, sects and cults are an increasingly common socio-cultural phenomenon, of which the effects concerning mental health and illness are still poorly understood. In the present study, we compared socio-demographical and clinical characteristics between members of Christian sects and the remaining genera...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/BF02191523

    authors： Dalgalarrondo P,Lotz M

    更新日期：1993-01-01 00:00:00

  • What are residual symptoms in schizophrenia spectrum disorder? Clinical description and 1-year persistence within a naturalistic trial.

    abstract：:The aim of this study was to evaluate residual symptoms in patients achieving remission according to the consensus criteria and to analyze their potential influence on the patient's outcome one year after discharge. In total, 399 patients suffering from a schizophrenia spectrum disorder were evaluated within a natural...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s00406-014-0528-2

    authors： Schennach R,Riedel M,Obermeier M,Spellmann I,Musil R,Jäger M,Schmauss M,Laux G,Pfeiffer H,Naber D,Schmidt LG,Gaebel W,Klosterkötter J,Heuser I,Maier W,Lemke MR,Rüther E,Klingberg S,Gastpar M,Möller HJ

    更新日期：2015-03-01 00:00:00

  • Psychiatric aspects of acute pandysautonomia.

    abstract：:Five cases of acute pandysautonomia and one case of acute autonomic and sensory neuropathy are described with special reference to psychiatric symptoms. They originally presented as psychiatric disorders, such as hysterical neurosis, epilepsy, anorexia nervosa and hypochondriacal neurosis. Psychiatric symptoms arise f...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/BF02189983

    authors： Okada F

    更新日期：1990-01-01 00:00:00

  • Cerebral blood flow responses during prosaccade and antisaccade preparation in major depression.

    abstract：:While impairments in executive functions have been well established in major depressive disorder (MDD), specific deficits in proactive control have scarcely been studied so far. Proactive control refers to cognitive processes during anticipation of a behaviorally relevant event that facilitate readiness to react. In t...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-018-0956-5

    authors： Hoffmann A,Ettinger U,Montoro C,Reyes Del Paso GA,Duschek S

    更新日期：2019-10-01 00:00:00

  • Seizure threshold increases can be predicted by EEG quality in right unilateral ultrabrief ECT.

    abstract：:Increases in seizure threshold (ST) over a course of brief pulse ECT can be predicted by decreases in EEG quality, informing ECT dose adjustment to maintain adequate supra-threshold dosing. ST increases also occur over a course of right unilateral ultrabrief (RUL UB) ECT, but no data exist on the relationship between ...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章,随机对照试验

    doi：10.1007/s00406-017-0777-y

    authors： Gálvez V,Hadzi-Pavlovic D,Waite S,Loo CK

    更新日期：2017-12-01 00:00:00

  • A genome-wide supported variant in CACNA1C influences hippocampal activation during episodic memory encoding and retrieval.

    abstract：:The alpha 1C subunit of the L-type voltage-gated calcium channel (CACNA1C) gene is one of the best replicated susceptibility loci for bipolar disorder, schizophrenia and major depression. It is involved in learning, memory and brain plasticity. Genetic studies using functional magnetic resonance imaging (fMRI) reporte...

    journal_title：European archives of psychiatry and clinical neuroscience

    pub_type： 杂志文章

    doi：10.1007/s00406-013-0428-x

    authors： Krug A,Witt SH,Backes H,Dietsche B,Nieratschker V,Shah NJ,Nöthen MM,Rietschel M,Kircher T

    更新日期：2014-03-01 00:00:00