Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature.

Autosomal dominant early-onset Alzheimer disease (EOAD) is a heterogeneous condition that has been associated with mutations in 3 different genes: the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes. Most cases are due to mutations in the PSEN1 gene, whereas mutations in the APP and PSEN2 genes are rare. Mutation analysis of the APP, PSEN1 and PSEN2 genes was performed. We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) of the PSEN2 gene. To our knowledge, this is the first German EOAD patient without a Volga-German ancestry and a positive family history for dementia carries the mutation PSEN-2 N141I. The patient came to our clinic for the first time when she was 47 years old. During the following 3 years, her Mini-Mental State Examination (MMSE) score dropped from 28 to 0. Mild cognitive impairment (MCI) was an early symptom that was already present during the first consultation. The concentration in cerebrospinal fluid (CSF) of tau-protein (1151 pg/ml) was increased, whereas the concentration of beta-amyloid protein (Abeta1-42) was decreased (335 pg/ml). Magnetic resonance imaging (MRI) revealed only slight changes in the early stage of the disease and positron emission tomography with (18F) fluoro-2-deoxy-D-glucose (18F-FDG PET) demonstrated glucose reduction left parietal and in the precuneus region. Follow-up MRI and 18F-FDG PET studies showed progression of atrophy of the left entorhinal cortex with relative sparing of the hippocampus and progressive hypometabolism of both temporoparietal lobes and left frontal lobe.

[Familial Alzheimer's disease with presenilin 2 N141I mutation. A case report]. / Familiäre Alzheimer-Demenz mit Präsenilin 2 N141I Mutation. Eine klinische Falldarstellung

Alzheimer's disease (AD) is the most common form of dementia. Approximately 0.5 per cent of all AD is caused by single major gene mutations and autosomal dominant inheritance. These familial types with early-onset (EOFAD) usually display dementia before the age of 60. Such mutations have been found in the gene encoding amyloid precursor protein (APP), and in the genes encoding presenilin 1 (PSEN1) or presenilin 2 (PSEN2). We herein report the case of a German patient with a EOFAD and a missense mutation at codon 141 (N141I) of the PSEN2 gene. The patient came to our psychiatric clinic for the first time when she was 49 years old. During the following 3 years, her Mini-Mental-State-Examination (MMSE) score dropped from 14 to 0 points. Positron emission tomography with [18F] Fluorodeoxyglucose (18F-FDG PET) demonstrated glucose reduction left parietal and in the pre-cuneus region. Follow-up 18F-FDG PET studies showed progressive hypometabolism of both temporoparietal lobes and left frontal lobe.

[Self concept and parental images in patients with affective disorders--a clinical study with the Giessen Test]. / Selbstkonzept und Elternbilder bei PatientInnen mit affektiven Störungen. Eine klinische Studie mit dem Giessen-Test.

The relationship between self, ideal self and normative self was studied in a sample of 139 patients with affective disorders and 73 patients with orthopaedic complaints. The depressive patients showed significant-asymmetric relationships between self and ideal self even after recovery from the clinical depression. Neurotic depressive patients could be distinguished from unipolar depressive patients in this regard. The self-concept of the depressive patients was characterised by means of the bipolar Giessen-test dimensions "insufficiency of performance", "lack of social adjustment" and "lack of social contact" and by means of the GT-dimensions "negative social resonance" and "depressive mood". There were no specific relationships between self-image and parental images in the depressive sample. The results underline the necessity of therapeutic interventions in depressive patients during the so-called symptom-free interval.

[Power, status and valency in relationship to affective psychoses, schizoaffective and neurotic depression of patients]. / Macht, Status und Valenz in den Partnerschaften affektpsychotischer, schizoaffektiver und depressiv neurotischer Patienten.

The interrelationships of patients with affective psychoses and depressive neuroses were analysed by means of the Giessentest. They were categorised using Beckmanns approach to power, status and valency. The different frequency of these scores in the depressive subgroups underlined the interactional dimension of depression and the influence of gender variables as well. In particular neurotic depressive male patients tended to have asymmetric structures of relationships. The couple relationships of female patients suffering from depression or physical illness were characterised by a negative valency in the self-concept and a positive valency in the self as perceived by others.

[Self concept and object relations in patients with monopolar and neurotic depression: a clinical study with the Giessen Test]. / Selbstwertgefühl und Objektbeziehungen von Patienten mit monopolarer und neurotischer Depression: Eine klinische Studie mit dem Giessen-Test.

A psychodynamic concept of depression is presented which refers to object-relation-theory. It is hypothesized that there is a dynamic interrelationship between the narcissistic homeostasis and interpersonal mechanisms of defence and compensation. The perception of the self and objects of patients with unipolar and neurotic depression and their partners was compared by means of the Giessen-Test. Both clinical groups differ according to the complement of roles and to projective mechanisms of defence. The depression of male patients collides with gender role stereotypes, which are stressed by the self images of depressive women. With regard to therapeutical interventions it is recommended to take into consideration the psychodynamic and interpersonal dimension of depression as well as the conflict resulting from the social-psychological dimension of depression, especially those of depressive male patients.