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Biomedical subjects

R Camarda

Publications and source records attributed to R Camarda.

At least 19 recordsLinked to original sources
PubMed2006

Association between apolipoprotein E epsilon4 allele and apathy in probable Alzheimer's disease.

OBJECTIVE: There have been inconclusive results to date on the association between the Apolipoprotein E (ApoE) genotype and neuropsychiatric symptoms (NPS) in Alzheimer's disease (AD). We investigated whether ApoE epsilon4 allele is associated with NPS in probable AD. METHOD: Data for 197 subjects with probable AD were analysed. The Neuropsychiatric Inventory was used to evaluate the frequency and severity of NPS. Multiple logistic regression models were used to test the association between ApoE genotype and NPS in AD. RESULTS: The ApoE epsilon3/3 genotype was present in 52.3%, epsilon3/4 in 44.1%, and epsilon4/4 in 3.6% of patients. ApoE epsilon4 carriers showed a higher frequency of apathy than non-carriers. After multiple adjustments, the ApoE epsilon4 allele was significantly associated with apathy. CONCLUSION: Our results suggest a relationship between the ApoE epsilon4 allele and apathy in patients with AD.

Aged↗
PubMed2005

Effects of levodopa oral bolus on the kinematics of the pointing movements in Parkinson's disease patients.

We studied the time-course of a levodopa oral bolus effects on the kinematics of patients affected by a mild akinetic-rigid form of idiopathic Parkinson's disease (PD). Eleven PD patients were evaluated: a) in OFF-state, that is before their first medication or after its withdrawal, b) in ON-state, that is at 1/2, 1, 2, 3, 4, 5, 6, 24, 30 and 48 hours after the administration of 250 mg of levodopa plus 25mg of carbidopa. The main kinematics (i. e.movement time, peak of velocity, peak of acceleration and peak of deceleration) of pointing movements to six target-stimuli placed on the horizontal plane of a table were recorded. Clinical conditions were assessed according to the Motor Examination section of the Unified Parkinson's Disease Rating Scale. The levopoda bolus had stable clinical effects only within the first six hours from its administration. The decline of the clinical response was marked by the changes of peak acceleration whereas other kinematics (i. e. movement time and the peak of velocity) changed also in the late observations (24, 30 and 48 hours after drug intake). The dissociation between the persistent improvement on movement time on peak velocity and the rapid deterioration of levodopa effects on early kinematics (i. e. peak acceleration) could be accounted for by a progressive decline in movement programming.

Administration, Oral↗
PubMed2005

A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily.

BACKGROUND: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive disorder characterized by a hoarse voice, warty skin infiltration and scarring. Mutations within the extracellular matrix protein 1 (ECM1) gene cause LP. OBJECTIVES: We report the molecular analysis of the ECM1 gene in a Sicilian patient with LP in order to extend the mutation spectrum of this genodermatosis. METHODS: We studied a 32-year-old female born from consanguineous parents who was diagnosed at the age of 11 years as having LP. She has a clinical phenotype corresponding to Urbach-Wiethe disease characterized by papules/nodules, indurated plaques and sometimes ulcerated lesions primarily involving the skin and mucous membranes, and extracutaneous features such as epilepsy, hoarseness of the voice and neuropsychiatric abnormalities. Samples of clinically affected skin obtained by biopsies were analysed after staining with haematoxylin and eosin, periodic acid-Schiff (PAS), and PAS-diastase. The whole ECM1 gene was analysed by direct sequencing. RESULTS: We identified a homozygous nonsense mutation in exon 6 of the ECM1 gene, C589T (Q197Ter). CONCLUSIONS: Over 60% of mutations occur in exons 6 and 7. Exon 7 is alternatively spliced and frameshift mutations in exon 7 lead to ablation of the ECM1a transcript, but not the shorter ECM1b transcript that normally lacks this exon. Homozygous nonsense or frameshift mutations in exon 6 are predicted to affect both full-length ECM1a and ECM1b transcripts, whereas ECM1b should be unaffected for similar types of mutation in exon 7. It has been suggested that individuals with mutations in exon 7 have a slightly milder phenotype than those with exon 6 mutations. This is the first report with respect to a novel mutation of the ECM1 gene responsible for recessive LP in Sicily.

Adult↗
PubMed2003

Prevalence of primary headaches in Italian elderly: preliminary data from the Zabút Aging Project.

We describe preliminary 1-year prevalence data of recurrent migraine headache (MH), tension-type headache (TTH), and other headaches (OH) in a rural elderly population. A door-to-door two-phase survey was conducted on all elderly (>or=65 years) residents of a rural village in southern Italy. Participants underwent a two-phase screening including a validated semi-structured questionnaire for headaches based on the International Headache Society criteria, and a neurological evaluation. Recurrent headache was defined as 3 or more attacks within the past 12 months. Out of 1031 participants evaluated, 225 (21.8%) suffered from recurrent headaches. One-year prevalence rates for headaches were respectively 4.6% for MH, 16% for TTH, and 1.3% for OH. For MH and TTH, but not for OH, prevalence rates were significantly higher for women than for men. Only MH prevalence rates significantly decrease with increasing age. In our population, about one-fifth of elderly subjects suffered from recurrent primary headaches. Prevalence rates were higher in women, and tended to decline with increasing age.

Aged↗
PubMed2003

Prevalence of headache in patients with Behçet's disease without overt neurological involvement.

The aims of the present study were to evaluate the prevalence of headache and the frequency of different headache syndromes in patients with Behçet's Disease (BD) without neurological involvement and to investigate the relationship with other clinical, and behavioural variables. Twenty-seven BD patients and 27 control subjects underwent a validated semistructured questionnaire based on the International Headache Society criteria. Levels of anxiety and depression, disease activity, and current medication were collected. Headache occurred in 88.9% of BD patients. There was no difference in the prevalence of the different headache syndromes between BD patients and controls. Only migraine without aura (MwA) was significantly more frequent in BD patients than controls (44.4% vs. 11.1%, respectively, P= 0.013). No relationship was found between MwA and clinical, and behavioural variables. Among headache syndromes, MwA showed the highest frequency in BD. A vascular or neuronal subclinical dysfunction could justify this association. A careful interview for migraine might be included in the diagnostic work-up of BD.

Adult↗
PubMed2001

Prevalence and pattern of cognitive impairment in systemic lupus erythematosus patients with and without overt neuropsychiatric manifestations.

The prevalence and pattern of cognitive impairment in systemic lupus erythematosus (SLE) patients with (NPSLE) and without (nSLE) overt neuropsychiatric manifestations were investigated. Fifty-two nSLE patients, 23 NPSLE patients and 27 healthy controls were evaluated with a battery of standardized neuropsychological and psychological tests. Disease duration, disease activity index, and current corticosteroid therapy were collected. Cognitive impairment was identified in 14 (26.9%) and in 12 (52.2%) of subjects with nSLE and NPSLE, respectively. Both SLE groups showed a significant impairment compared with controls on tasks assessing verbal and non-verbal long-term memory, and visuoconstructional abilities. In addition, NPSLE patients reported worse performances than both nSLE patients and controls on task evaluating short-term visuospatial memory. NPSLE subjects were significantly more anxious and depressed compared to both nSLE subjects and controls. By multivariate analysis, only depression levels, among clinical variables, significantly predicted cognitive performance. This study shows that cognitive impairment occurs frequently in both nSLE and NPSLE subjects. The higher frequency in NPSLE may be related to coexisting depressive disturbances.

Adrenal Cortex Hormones↗
PubMed2000

Cognitive deficits in beta-thalassemia major.

OBJECTIVES: To assess cognitive functioning in patients affected by beta-thalassemia major (beta-th) by using a neuropsychological battery, and to identify clinical correlates. MATERIAL AND METHODS: Forty-six beta-th patients and 46 controls similar for age, sex, and education participated in the study. All subjects performed a comprehensive neuropsychological battery including tests of abstract reasoning, attention, executive functions, language, constructional/visuospatial skills, and memory. RESULTS: Compared to controls beta-th patients, in particular those showing signs of hemosiderosis, were significantly impaired on all neuropsychological tests. There was no relationship between cognitive performances and signs of deferoxamine toxicity, deferoxamine dosage, and levels of hemoglobin and ferritin, while duration of transfusional therapy and time interval between onset of blood transfusions and onset of chelating treatment correlated with performances of tests assessing abstract reasoning, attention, constructional/visuospatial skills, memory and with the scores of the Mini Mental State Examination. CONCLUSION: Our findings suggest that beta-th is associated with neuropsychological impairment involving multiple cognitive domains and argue for a potential role of hemosiderosis on cognitive functioning.

Adult↗
PubMed1996

Transient topographical amnesia and cingulate cortex damage: a case report.

Transient topographical amnesia (TTA) is the temporary inability to find one's way in familiar or unfamiliar surroundings due to the inability to use well known environmental landmarks for route finding. The syndrome has not been described as having any obvious aetiology and has been thought to be caused by a vascular deficit in right hemispheric structures which are crucial for topographic recognition, i.e. parietal association and parahippocampal cortex. The patient described in the present study complained of several critical episodes of TTA and tonic rigidity of the left limbs. Neuropsychological assessment was normal except for a deficit in spatial memory tasks. Magnetic resonance (MR) imaging of the brain showed an angioma at the border of areas 24d and 23 of the right cingulate cortex. Because area 23 is strategically located in a network that links the parietal associative (area 7a) and parahippocampal cortices, and because these cortical areas are involved in topographical orienting processes, we suggest that a transient functional inactivation of the network caused by epileptic discharges spreading from the damaged cingulate cortex towards the parahippocampal and parietal association cortex could account for the spatial disorder. Similar discharges spreading from area 24d towards the primary motor cortex and/or the spinal cord could account for the episodes of tonic rigidity of the left limbs.

Amnesia↗
PubMed1996

The IHS classification criteria for migraine headaches in adolescents need minor modifications.

The operational and diagnostic criteria for migraine and all other headache disorders released in 1988 by the International Headache Society are universally considered reliable and exhaustive. These criteria, however, cannot be considered as satisfactory for population-based studies on migraine prevalence, especially if adolescents are the subjects of the study. Using these diagnostic criteria, we conducted an epidemiological study in order to assess the prevalence of migraine headache in a student population aged 11 to 14 years. Our survey made it possible to code IHS 1.1 (migraine without aura) in 2.35%, IHS 1.2 (migraine with aura) in 0.62%, IHS 1.7 (migrainous disorders not fulfilling migraine criteria) in 1.52%, and IHS 13 (headache not classifiable) in 1.38% of the examined pupils. In adolescents, the low prevalence estimates of migraine headache coded IHS 1.1 and the relatively high prevalence estimates of headaches coded IHS 1.7 and IHS 13 have appeared to be a consequence of the rigidity of some operational diagnostic criteria of the recent IHS classification rather than of the geographical, environmental, or socioeconomical peculiarities of the cohort. Therefore, in order to improve the reliability and the exhaustiveness of the IHS classification by increasing its sensitivity, we believe that minor modifications of the diagnostic criteria are necessary. Within these revised criteria, the subitem "moderate or severe intensity" of pain headache should become mandatory, whereas the lower limit of the criterion "duration of pain" should be reduced to 1 hour.

Adolescent↗
PubMed1995

Migraine headaches in adolescents: a student population-based study in Monreale.

We assessed the prevalence of migraine headaches in an epidemiological survey of an 11 to 14-year-old student population. Migraine headaches were classified on the basis of questionnaires and neurological examination using the operational diagnostic criteria of the International Headache Society. Prevalence of migraine without aura (IHS code 1.1) was 2.35%; that of migraine with aura (IHS code 1.2) was 0.62%. Migraine without aura was equally distributed among males and females, whereas migraine with aura was preponderant in the female cohort. The prevalence of migraine headaches in males was constant through the ages studied, whereas the prevalence of migraine headaches in females reached a peak at age 12 and plateaued over the following two years. Although the new IHS classification criteria of migraines are reliable and exhaustive, some subcriteria may not be valid in a juvenile population. For instance, the duration of the pain in young migraineurs is often briefer than in adults, and the intensity of pain was almost always described as moderate or severe. Therefore, in order to increase the reliability and comprehensiveness of the IHS classification, minor modifications should be made.

Adolescent↗
PubMed1994

Corticospinal projections from mesial frontal and cingulate areas in the monkey.

We injected neural tracers into the lateral funiculus of the spinal cord in order to relate the sites of origin of the spinal projections from the mesial cortical surface with the cytoarchitectonic organization of this region. We found a close correlation between the origin sites and density of corticospinal projections and the areal organization. The areas most densely labelled were F3 (SMA-proper) and area 24d, whereas F6 (pre-SMA) and area 24c showed a low density of labelling. The segmental topography of the corticospinal projections fitted well with the somatotopy of the mesial cortical areas. We conclude that in the agranular mesial cortex there are four independent motor representations: F3 and 24d where the whole body is represented, and F6 and 24c which are mostly related to arm movements.

Amidines↗
PubMed1994

Monosymptomatic presentation of type I Arnold-Chiari malformation: report of two cases.

Two cases of type I ACM are described, one of which presented with dizziness in late childhood (case 1), the other with mild intention tremor in adulthood (case 2). Cerebellar ectopia should be considered in monosymptomatic patients even in the absence of other symptoms and signs of C.N.S. dysfunction. Magnetic resonance imaging of the craniocervical junction should be performed because it may be diagnostic for type I ACM.

Adolescent↗
PubMed1993

Corticocortical connections of area F3 (SMA-proper) and area F6 (pre-SMA) in the macaque monkey.

The monkey mesial area 6 comprises two distinct cytoarchitectonic areas: F3 [supplementary motor area properly defined (SMA-proper)], located caudally, and F6 (pre-SMA), located rostrally. The aim of the present study was to describe the corticocortical connections of these two areas. To this purpose restricted injections of neuronal tracers (wheat germ-agglutinin conjugated to horseradish peroxidase, fluorescent tracers) were made in different somatotopic fields of F3, F6, and F1 (area 4) and their transport plotted. The results showed that F3 and F6 differ markedly in their cortical connections. F3 is richly linked with F1 and the posterior premotor and cingulate areas (F2, F4, 24d). Connections with the anterior premotor and cingulate areas (F6, F7, F5, 24c) although present, are relatively modest. There is no input from the prefrontal lobe. F3 is also connected with several postrolandic cortical areas. These connections are with areas PC, PE, and PEa in the superior parietal lobule, cingulate areas 23 and PEci, the opercular parietal areas (PFop, PGop, SII) and the granular insula. F6 receives a rich input from the anterior premotor areas (especially F5) and cingulate area 24c, whereas its input from the posterior premotor and cingulate areas is very weak. A strong input originates from area 46. There are no connections with F1. The connections with the postrolandic areas are extremely meagre. They are with areas PG and PFG in the inferior parietal lobule, the disgranular insula, and the superior temporal sulcus. A further result was the demonstration of a differential connectivity pattern of the cingulate areas 24d and 24c. Area 24d is strongly linked with F1 and F3, whereas area 24c is connected mostly with F6. The present data support the notion that the classical SMA comprises two functionally distinct areas. They suggest that F6 (the rostral area) is responsible for the "SMA" so-called high level motor functions, whereas F3 (the caudal area) is more closely related to movement execution.

Animals↗
PubMed1989

Somatotopic representation in inferior area 6 of the macaque monkey.

On the basis of its cytoarchitectonic and enzymatic properties area 6 of the macaque monkey can be subdivided into two large sectors: a superior sector lying medial to the spur of the arcuate sulcus (superior area 6 or F2) and an inferior sector lying lateral to it (inferior area 6). Inferior area 6 is constituted by two enzymatic areas: F4 and F5. In this study we investigated the somatotopic organization of inferior area 6 and the adjacent area 4 combining single-neuron recording and intracortical electrical microstimulation. We found that two separate movement representations exist in this region. The caudal one corresponds to area F1 (primary motor cortex), the rostral one to inferior area 6. The two representations are mirror images one of the other with the axioproximal movements being adjacently located. In the rostral map the proximal movements are mostly located in F4, the distal movements in F5. Neuronal properties indicate that the rostral map has characteristics that are more complex than the caudal map. We propose that the rostral map is involved in transforming visual information in motor commands. F4 should be involved in the control of arm movements based on the location of the objects in respect to the body, whereas F5 should play a role in the control of grasping movements on the basis of the size of the stimuli.

Animals↗
PubMed1988

Functional organization of inferior area 6 in the macaque monkey. I. Somatotopy and the control of proximal movements.

Two series of experiments are reported in this paper. The first concerns the movement representation in the macaque inferior area 6, the second the functional properties of neurons located in the caudal part of this area (histochemical area F4). By combining single neuron recording and intracortical microstimulation, we found that inferior area 6 is somatotopically organized. The axio-proximal movements are represented caudally, the distal movements are represented near the arcuate sulcus. The mouth field is located laterally, the hand field medially. There is no leg field. A comparison between neuron properties and histochemical characteristics of inferior area 6 showed that the proximal movements representation includes most of area F4, whereas the distal movements representation corresponds to area F5 and to the rostral part of F4. Neurons located in that part of F4 where proximal movements are represented respond very well to tactile stimuli. They have large receptive fields mostly located on the face and on the upper part of the body. A large number of these neurons respond to visual stimuli. Objects approaching the animal are particularly effective. The tactile and the visual receptive fields are in register. The most represented movements are reaching movements, movements bringing the hand to the mouth or to the body and facial movements. There is a congruence between location of visual fields and preferred arm movements. It is argued that the receptive field arrangement and the response properties are more complex in area F4 than in the primary motor cortex and that area F4 neurons are involved in the control of arm movements towards different space sectors.

Animals↗
PubMed1988

Functional organization of inferior area 6 in the macaque monkey. II. Area F5 and the control of distal movements.

The functional properties of neurons located in the rostral part of inferior area 6 were studied in awake, partially restrained macaque monkeys. The most interesting property of these neurons was that their firing correlated with specific goal-related motor acts rather than with single movements made by the animal. Using the motor acts as the classification criterion we subdivided the neurons into six classes, four related to distal motor acts and two related to proximal motor acts. The distal classes are: "Grasping-with-the-hand-and-the-mouth neurons", "Grasping-with-the-hand neurons", "Holding neurons" and "Tearing neurons". The proximal classes are: "Reaching neurons" and "Bringing-to-the-mouth-or-to-the-body neurons". The vast majority of the cells belonged to the distal classes. A particularly interesting aspect of distal class neurons was that the discharge of many of them depended on the way in which the hand was shaped during the motor act. Three main groups of neurons were distinguished: "Precision grip neurons", "Finger prehension neurons", "Whole hand prehension neurons". Almost the totality of neurons fired during motor acts performed with either hand. About 50% of the recorded neurons responded to somatosensory stimuli and about 20% to visual stimuli. Visual neurons were more difficult to trigger than the corresponding neurons located in the caudal part of inferior area 6 (area F4). They required motivationally meaningful stimuli and for some of them the size of the stimulus was also critical. In the case of distal neurons there was a relationship between the type of prehension coded by the cells and the size of the stimulus effective in triggering the neurons. It is proposed that the different classes of neurons form a vocabulary of motor acts and that this vocabulary can be assessed by somatosensory and visual stimuli.

Animals↗