Depressive symptoms and MRI changes in multiple sclerosis.

To determine whether changes in specific regions of the brain can contribute to the development of depression in patients with multiple sclerosis (MS). We prospectively studied 90 patients with clinically definite MS. Disability, independence, cognitive performances, and depressive and anxiety symptoms have been assessed at baseline and 2 years later. At these two time-points, patients underwent a 1.5-T magnetic resonance examination of the brain including T1- and T2-weighted images. Calculation of regional and total lesion loads (LL) have been performed by a semiautomatic technique; total and regional brain volumes have been calculated by a fully automatic highly reproducible computerized interactive program. Measurements of LL did not show any significant difference between depressed and non-depressed patients. Brain atrophy was significantly more conspicuous in the left frontal lobe (P=0.039), in both frontal lobes (P=0.046) and showed a trend towards a difference in the right frontal lobe (P=0.056), in the right temporal lobe (P=0.057) and in both temporal lobes (P=0.072) of depressed patients. Disability, independence and cognitive performances were similar in depressed and non-depressed patients (P=NS). Spearman correlation analysis and multiple-regression analysis demonstrated that the severity of the depressive symptoms score was associated both with the disability score and the right temporal brain volume. Destructive lesions in the right temporal lobe can contribute to the severity of depression in patients with MS but the influence of the severity of neurological impairment should be taken into account.

ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder. The mutations of Cu/Zn superoxide dismutase gene (SOD1) are responsible for familial ALS. We investigated a large family of Istro-Rumanian origin characterized by an autosomal dominant ALS occurring in 18 cases (three of which are still alive) throughout six generations. METHODS: Clinical data were available for nine patients from the 2nd generation onward, among which one contained the neuropathological details. The mean age at onset of the disease (+/-SD) was 57.3+/-8.9 years (range 49-72), while the duration of the disease spanned over a length of time equal to 4.9+/-1.96 years (range 1.5-7). The analysis of the coding region of SOD1 was done by PCR and direct sequencing. The SOD1 activity was measured by using the red and mononuclear cells belonging to three of the patients. RESULTS: The leu144phe mutation of SOD1 was identified in four patients while a normal sequence was found in five healthy related subjects. The molecular defect was responsible for a decrease in SOD1 activity. Most of patients in this family presented clinical manifestations of ALS (in particular, the lower limb onset variant) not as severe as typical ALS caused by other SOD1 mutations. However, one patient suffering from hyperthyroidism for 17 years, showed an early onset and a rapidly progressing ALS coupled with dementia. CONCLUSIONS: We described a large family with a relatively not severe phenotype of ALS (due to a leu144phe SOD1 mutation) that was compromised in one patient by a concomitant hyperthyroidism.

Sexual dysfunction in multiple sclerosis: a case-control study. I. Frequency and comparison of groups.

Sexual dysfunction is a very important but often overlooked symptom of multiple sclerosis. To investigate the type and frequency of symptoms of sexual dysfunction in patients suffering from multiple sclerosis, we performed a case-control study comparing 108 unselected patients with definite multiple sclerosis, 97 patients with chronic disease and 110 healthy individuals with regard to sexual function, sphincteric function, physical disorders impeding sexual activity and the impact of sexual dysfunction on social life. Information has been collected from a face-to-face structured interview performed by a doctor of the same gender as the patient. The disability, the cognitive performances, the psychiatric conditions and the psychological profile of patients and controls have been assessed. Sexual dysfunction was present in 73.1% of cases, in 39.2% of chronic disease controls and in 12.7% of healthy controls (P<0.0001). Male cases reported symptoms of sexual dysfunction more frequently than female cases (P<0.002). Symptoms of sexual dysfunction more commonly reported in patients with multiple sclerosis were anorgasmia or hyporgasmia (37.1%), decreased vaginal lubrication (35.7%) and reduced libido (31.4%) in women, and impotence or erectile dysfunction (63.2%), ejaculatory dysfunction and/or orgasmic dysfunction (50%) and reduced libido (39.5%) in men. Seventy-five per cent of cases, 51.5% of chronic disease controls and 28.2% of healthy controls (P<0.0001) experienced symptoms of sphincteric dysfunction. In conclusion, a substantial part of our sample of patients with multiple sclerosis reported symptoms of sexual and sphincteric dysfunction. Both sexual and sphincteric dysfunction were significantly more common in patients with multiple sclerosis than in either control group. Our findings suggest that a peculiar damage of the structures involved in sexual function is responsible for the dysfunction in patients with multiple sclerosis, but the highly significant lower frequency of symptoms of depression and anxiety in healthy controls may also imply a possible causative role of psychological factors.

Sexual dysfunction in multiple sclerosis: II. Correlation analysis.

Sexual dysfunction affects a large part of patients suffering from multiple sclerosis, but some aspects of its clinical presentation and aetiology are not clearly defined yet. In an unselected sample of 108 patients with definite multiple sclerosis we investigated the relationship between symptoms of sexual dysfunctioning and sphincteric dysfunction, patients' and disease characteristics, disability and neurological impairment, psychological and cognitive functioning. Sexual dysfunction directly correlated with presence of physical disorders (r=0.37, P=0.0004), low educational level (r=0.32, P<0.002), disability (r=0.31, P<0.003), age at onset of symptoms (r=0.30, P<0.003), sphincteric dysfunction (r=0.30, P<0.003), age (r=0.30, P<0.004), depression (r=0.29, P<0.005), fatigue (r=0.29, P=0.005), cognitive deterioration (r=0.26, P<0.01), primary-progressive course of disease (r=0.25, P<0.02), neurological impairment (r=0.25, P<0.02), marriage (r=0.24, P<0.02), anxiety (r=0. 23, P<0.03), male gender (r=0.22, P=0.03) bladder dysfunction (r=0. 29, P<0.04), and unemployment (r=0.21, P<0.04). Sexual dysfunction correlated inversely with relapsing - remitting course of disease (r=-0.31, P<0.002). No correlation was found between sexual dysfunction and bowel dysfunction, duration of disease, secondary-progressive course of disease, number and frequency of sexual intercourses in the last year, number of partners, number of exacerbations in the last year, number of months since last exacerbation, masturbation, and fertility. In conclusion, the association between sexual dysfunction and sphincteric dysfunction indicates a common aetiology corresponding to the frequent involvement of the spinal cord in multiple sclerosis, but the concomitant correlation between sexual dysfunction and other variables suggests the possible aetiological role of physical, psychological and sociological factors as well.

[Multidisciplinary approach in neurotic head and back ache. Clinical contribution]. / L'approccio multidisciplinare nelle cefalo-rachialgie nevrotiche. Contributo clinico.

Stress is laid on the need for a multidisciplinary approach to the treatment of pain. Reference is made to personal experience, during which the presence of a psychiatric specialist in the team permitted the discovery of 4% of patients with pain of a purely psychological origin in a series of 300 subjects, together with 10% with pain of mixed origin. Attention is drawn to the usefulness of centering treatment on recognition and evaluation of the psychological component, and on treatment with antidepressive drugs in association with classic antalgic procedures.