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It is generally thought that fragile X-associated tremor/ataxia syndrome (FXTAS) represents a late-onset neurodegenerative disorder occuring in male carriers of a premutation expansion (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR 1) gene. However, several female patients with FXTAS have also been reported recently. Here, we describe a 23-year old woman with positive family history of mental retardation and autism who presented clinically with action tremor, ataxia, emotional disturbances and cognitive dysfunction. Magnetic resonance imaging (MRI) of the brain showed diffuse cortical atrophy, while 1H-MR spectroscopy (MRS) revealed decreased levels of N-acetylaspartate (NAA) in the cerebellum, basal ganglia, and pons. Genetic testing confirmed heterozygous FMR 1 gene premutation of 100 CGG repeats in the abnormal allele and 29 CGG repeats in the normal allele. We concluded that FXTAS may be an under-recognized disorder, particularly in women.

Children of different ages will experience a traumatic event in a different ways. The most important in the generalization of research findings is recognizing that children of different ages think differently, act differently and have different emotional functioning. Experiences that are extremely traumatic to an adult may be perceived by a young child as something that is not so frightening. The fear that the child feels will more frequently be a reflection of that of the adult rather than generated by the child's own perception of the event. So, the individual experience of the trauma is age dependent. Our study focused on children who lost their fathers in conditions of war The aim was to explore the association between age-developmental stages and the severity of trauma related symptoms, anxiety and depressive symptoms in participants who lost their fathers during the war. The study included 103 people who lost their fathers during the war in Croatia, who came to the physical and psychiatric examination organized by the Ministry of Family, War Veterans and Intergenerational Solidarity. The sample was consisted of the participants who were children, or not born yet, at the time when they lost their fathers during the war in Croatia. At the time of interview, the participants were aged between 15 and 35 years old. Data was collected using a structured clinical interview which also included socio-demographic data. Data about former and current psychiatric symptoms were collected using the following instruments: Clinician- Administrated PTSD Scale (CAPS), Hamilton anxiety scale (HAMA), Hamilton depression scale (HAMD). Results showed that there was significant correlation between age and results on used scales. The participants who lost their fathers at a very young age or even before they were born showed less trauma symptoms (r=0.249; p < 0.05) less anxiety (r=0.374; p < 0.01) and depressive (r=0.384; p<0.01) symptoms than participants who lost their fathers at an older age. The study confirmed that the individual experience of the trauma of losing a father in war circumstances is associated with age.

Magnetic resonance spectroscopy (MRS) noninvasively provides information on the concentration of some cerebral metabolites in vivo. Among those measurable by proton magnetic resonance spectroscopy (1H-MRS), N-acetyl-aspartate (NAA) is decreased, and myo-inositol (ml) and choline (Cho) levels are increased in patients with Alzheimer's disease (AD). Donepezil, an acetylcholinesteraze inhibitor, has proven effect on cognitive symptoms in patients with AD. In previous studies, treatment response was associated with an increase of NAA and NAA/Cr in the parietal lobe and hippocampi. Correlation of longitudinal changes of 1H-MRS detectable metabolites in dorsolateral prefrontal cortex (DLPFC) with clinically observable changes is a poorly researched topic. The objective of this non-interventional study is to assess whether changes in 1H-MRS measurable metabolites correlate with clinical outcome after donepezil treatment. Twelve patients with mild to moderate AD were evaluated during 26 weeks of donepezil treatment. 1H-MRS parameters in DLPFC were assessed before and after 26 weeks of donepezil treatment. Cognition was assessed with Alzheimer's Disease Assessment Scale cognitive subscale (ADAS-Cog). A significant increase in NAA/Cr ratio and significantly lower decrease in mI/Cr ratio were found in AD patients with positive treatment response. The results of this study indicate possible modest donepezil effect on prevention of neuronal functional deterioration in DLPFC which correlates with clinical outcome and point the use of 1HMRS as technique of help in assessment of drug effect.

The reduction of hippocampal volume was frequently reported in schizophrenia, but not in bipolar disorder This volume reduction is associated with clinical features of schizophrenia, in particular with working and verbal memory impairments. Schizoaffective disorder, as a specific disorder sharing clinical features of both schizophrenia and bipolar disorder is rarely analyzed as a separate disorder in neurobiological studies. The aim of this study was to compare hippocampal volumes in separate groups of patients with schizophrenia, schizoaffective and bipolar disorder. Hippocampal volumes were estimated using high resolution magnetic resonance imaging in 60 subjects, 15 subjects in each patient and one healthy volunteer (control) group. There were no significant differences in hippocampal volume between bipolar disorder and control group. Hippocampal volume was statistically significantly reduced in the group of patients with schizophrenia and schizoaffective disorder, compared to either bipolar disorder or control group, thus supporting the hypothesis that hippocampal volume reduction could be considered as a possible neurobiological basis for clinical aspects of schizophrenia and schizoaffective disorder associated with working and verbal memory impairment.

The impact of war on the population is vast, especially when it comes to those who were directly affected by war, among other things as concentration camp detainees. Because of the specific war experience of this population it is important to better understand the possible contribution of key socio-demographic variables, war traumatization and acute disturbances in mental health to their subjective assessment of their own well-being, which represents a psychological category and is based on a subjective assessment. The starting point is a theoretical precept according to which individual characteristics, together with war experience, can have repercussions on mental health, and eventually on the general well-being of an individual and their quality of life. The study comprised 184participants who had given their informed consent for participation and filled out complete questionnaires. The participants were a convenience sample of male persons who had survived war captivity in the Homeland War in the period from 1991 to 1995. The study was conducted as part of the physical examinations at the University Hospital "Fran Mihaljević" in Zagreb. The data was collected using several self-evaluation measuring instruments one of which served to collect socio-demographic data, two to collect data on the participants' mental health, one for the data on the participants' combat and war experiences and one to assess the participants' well-being. The data obtained suggest that only avoidance and arousal symptoms and psychosomatic difficulties are predictors of the well-being of persons who have experienced war captivity.

In a present pilot study, performed on 11 subjects, we studied proton magnetic resonance spectroscopy (1H-MRS) changes in early to intermediate (3-6 weeks) responders to antidepressant treatment with selective serotonin reuptake inhibitors (SSRIs). All subjects had diagnosis of major recurrent depression comorbid to posttraumatic stress disorder (PTSD). Magnetic spectroscopy was done in the region of dorsolateral prefrontal cortex on a 3T MRI-unit. Participants were selected out of the larger sample due to an early response to antidepressant treatment within 3-6 weeks, measured with Beck Depression Inventory (BDI). We measured levels of neuronal marker N-acetyl-aspartate (NAA), choline (CHO) and creatine (Cr). There was no difference in NAA/Cr ratios between the first and the second spectroscopic scans (p= 0.751). However, CHO/Cr ratios showed increasing trend with mean value at the first scan of 1.09 (SD =0.22) while mean value at second scan was 1.25 (SD=0.24), displaying statistically significant difference (p=0.015). In conclusion, significant increase in choline to creatine ratio from the first to the second spectroscopic scan during the antidepressant treatment, compared to almost identical values of NAA to creatine ratio, suggests increased turnover of cell membranes as a mechanism of the early response to the antidepressant drug therapy.

Limited potential of electroencephalogram (EEG), magnetic resonance images (MRI) and cerebrospinal fluid (CSF) test for 14-3-3 protein in the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) resulted in developments in diagnostic premortem tehniques. Recent studies provided evidence that magnetic resonance spectroscopy (MRS) and measurement of total-tau (T-tau) and phospho-tau (P-tau) may be useful to identify patients with CJD. We combined detected metabolic changes in the brain by MRS and measured T-tau and tau-pT181 by ELISA, and tau-pT231 by Westernblot in a patient with autopsy proven sCJD. Our results show that in contrast to negative CSF 14-3-3 protein, nonspecific EEG and MRI, MRS revealed metabolic alterations in regions of the brain that has appeared normal on MRI, and tau tests has shown measurable levels of phosphorylated and non-phosphorylated isoforms in CSF. We conclude that rapidly progressive dementia with negative 14-3-3 test and non-specific initial EEG and MRI must still be considered in the differential diagnosis of the sCJD. Combination of serial functional MRI along with MRS study and measurement of tau ratio could improve the early diagnosis of sCJD. The current case is the first attempt to study results of the use of MRS and tau tests in a case of sCJD with diagnostic dilemma.

Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) have been investigated in a single neurodegenerative disease manifesting as either amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD) alone, but have not been examined in combined disorders such as ALS with FTD (ALS-FTD). To our knowledge, this study is the first attempt to demonstrate relationship between MRI abnormalities and MR spectroscopic metabolite changes of the motor cortex, frontal white matter and corticospinal tract in a patient with the diagnosis of ALS with probable upper motor neuron signs (ALS-PUMNS) and FTD. Patient presented underwent MRI of the brain and MRS. The ratio of N-acetylaspartate (NAA) to creatine (Cr), choline to Cr, myo-inositol (ml) to Cr and glutamate-glutamine (Glx) to Cr were derived from peak area measurement. Spectra from the right motor cortex, frontal white matter and corticospinal tract were obtained. MR images were evaluated for sulcus centralis enlargement, corticospinal tract hyperintensity and frontal lobes atrophy. Spectra showed reduced NAA/Cr and Glx/Cr ratio, yet the ratio of Cho/Cr exhibited significant elevation. MR images revealed sulcus centralis enlargement, high signal intensity of corticospinal tract and atrophy of both frontal lobes. Proton spectroscopic metabolic changes in a current patient fully correlate with previously reported MRS metabolic changes in ALS alone. Surprisingly, normal ml (glial marker) values have been found in almost all measured voxels of interest except in the frontal white matter. These findings differ from the previous findings in ALS or FTD alone. In conclusion, these findings support the concept that ALS, FTD and ALS-FTD may represent different manifestations of a single pathological continuum.

Suicidal behavior is a major health risk in psychiatric disorders, especially in affective and psychotic disorders. The neurobiology of suicidal behavior is still unclear. Suicidality has been related to a reduced cholesterol levels. The aim of this study was to evaluate serum cholesterol concentrations in suicidal and non-suicidal men suffering from persistent delusional disorder and in healthy volunteers. Results showed that serum cholesterol concentrations were significantly lower in suicidal than in non-suicidal patients and healthy controls. Also, level of psychopathology (measured by Brief Psychiatric Rating Scale) is significantly marked in the group of suicidal patients, which indicates the importance of detecting some clinical symptoms in patients with persistent delusional disorder in order to prevent suicidal behavior.

Since early neuropathological findings, temporal lobe has been related to the pathophysiology of some disorders with psychotic features. The aim of this study was to compare temporal lobe volumes and asymmetry differences in patients with schizophrenia, schizoaffective and bipolar disorders, disorders that cover the whole psychotic spectrum. Temporal lobe volumes were estimated using high resolution magnetic resonance imaging in 60 subjects, 15 subjects in each patient and one healthy volunteer (control) group. There are no statistically significant differences in temporal lobe volumes among patient and control groups. Comparison of left and right temporal lobes shows that left temporal lobes are smaller than right temporal lobes, however this difference reaches statistical significance only in groups of patients with schizoaffective and bipolar disorders. Overall temporal lobe volume may be less informative in respect to neuropathology of disorders with psychotic features than volumes of specific temporal lobe structures, in particular medial temporal lobe structures.

This study investigates anxiety and defense styles in eating disorders. Seventy eating disorder (ED) patients and fifty-one female matched control subjects completed State and Trait Anxiety Inventory (STAI) and 88-items Defense Style Questionnaire (DSQ). ED patients were more anxious in actual situations and more anxiety prone in general. They relied on maladaptive action and Image distorting defense style. Bulimic anorexic (BAN) patients and bulimia nervosa (BN) patients differed in defense styles from restrictive anorexic (RAN) patients who displayed no significant difference in either state and trait anxiety or in defense styles when compared to healthy patients. Different levels of anxiety and ego defense maturity are present in ED patients. The almost normal ego functioning of RAN patients could be explained by pseudomaturity, tendency to control external and internal environment and the unconscious efforts to imitate normality to avoid conflicts.