M Manfredi

Fondazione Poliambulanza, Brescia, Lombardy, Italy

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Publications (11)21.55 Total impact

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    ABSTRACT: Spinal dysraphisms are diagnosed more frequently at birth or in infancy. We report a spinal malformation compatible with lipomyeloschisis in an elderly patient presenting with symptoms and signs of myelopathy. Magnetic resonance imaging revealed an intraspinal mass continuous with a subcutaneous lipoma. Three-dimensional computed tomography reconstructions better showed the spinal dysraphism; dermal sinus was also evident. Neuroimaging can define the precise diagnosis also in elderly patients presenting with myelopathy and can provide valuable structural details.
    Neurological Sciences 11/2001; 22(5):405-7. · 1.41 Impact Factor
  • Acta neurologica Belgica 04/2000; 100(1):48-50. · 0.47 Impact Factor
  • M Manfredi, L De Togni, A Beltramello
    European Neurology 02/2000; 43(2):121-2. · 1.50 Impact Factor
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    ABSTRACT: We investigated the prevalence of dementia and the apolipoprotein E (APOE) genotype distribution in the elderly of Buttapietra, a village near Verona, Italy. All residents over the age of 74 (n = 238), including those who were institutionalized, were studied using a direct-contact, single-phase design. The overall prevalence of dementia, clinically defined by DSM-III-R criteria, was 15.8 cases per 100 population, with age-specific figures increasing steeply with advancing age in both sexes. Alzheimer's disease (AD) was the most frequent dementing disorder (43%). APOE genotyping was determined after DNA amplification by restriction isotyping. We found that the epsilon4 allele and the epsilon3/epsilon4 genotype were associated with all types of dementia, although only the association of epsilon3/epsilon4 with AD reached statistical significance (odds ratio 4.5, 95% confidence interval 1.3-16.1). However, as reported in other Mediterranean countries, the frequency of the epsilon4 allele in our population was low (8.9%), suggesting that the population-attributable risk for AD, at least for elderly individuals (> or =75 years), could be small.
    Neuroepidemiology 01/2000; 21(2):74-80. · 2.37 Impact Factor
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    ABSTRACT: Superficial siderosis of the central nervous system is a rare condition characterized by deposition of haemosiderin in the leptomeninges and in the subpial layers of the brain and spinal cord. With the widespread use of magnetic resonance imaging, an increasing number of cases of superficial siderosis are being discovered, secondary forms being more frequent than idiopathic ones. We report a 78-year-old man in oral anticoagulant therapy, who presented neurosensory hearing loss, gait ataxia and spastic paraparesis. Magnetic resonance imaging suggested the diagnosis of superficial siderosis of the central nervous system, without an evident bleeding source.
    The Italian Journal of Neurological Sciences 09/1999; 20(4):247-9.
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    ABSTRACT: The purpose of this study was to show a gradient of possible bilateral activation for movements of the non-dominant vs. dominant hand, as well as for areas involved in complex vs. simple hand movements. A standard 1.5 T magnetic resonance imaging (MRI) system has been utilized to localize the cortical motor hand areas, using the blood oxygen level dependent contrast (BOLDc) technique and single-section fast low-angle shot (FLASH) imaging. Ten normal right-handed subjects volunteered for the study. The motor tasks consisted of simple (flexion-extension) finger movements of either hand, and complex movements (finger-to-thumb opposition in a repeating, pre-planned sequence) of the non-dominant hand. Simple movements caused contralateral activation of the primary motor area (MA); ipsilateral activation was observed for the non-dominant hand only. Supplementary motor area (SMA) was also activated, with a clear contralateral prevalence. The ratio of bilateral activation of MA did not change with complex movements of the non-dominant hand, while SMA as well as lateral premotor area were largely bilaterally activated in this task. In conclusion, the ipsilateral MA is activated for movements--even simple--performed with the non-dominant hand. There is widespread functional activity, involving both contralateral and ipsilateral SMA, for complex movements.
    The Italian Journal of Neurological Sciences 11/1998; 19(5):277-84.
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    Journal of Neurology Neurosurgery &amp Psychiatry 05/1998; 64(4):563-4. · 4.92 Impact Factor
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    ABSTRACT: Metachromatic leukodystrophy (MLD) is an autosomal recessive storage disease caused by deficiency of the lysosomal enzyme, arylsulfatase A. Two common mutations causing MLD have been characterized and correlations between phenotype and genotype have been established. A third common mutation, T799G, has also been identified in European MLD patients, and is associated with the late-onset forms of the disease. We report the molecular analysis of two Italian MLD patients, with juvenile and adult onset of the disease, respectively, who carried the T799G mutation in compound heterozygosity with different null mutations. A novel rapid mutation detection method is demonstrated for patient screening. One patient has a novel mutation, a T553C [corrected] transition that results in the substitution of Pro for Leu at codon 135, and produces no enzymatic activity in transfection experiments.
    Human Genetics 05/1998; 102(4):459-63. · 4.63 Impact Factor
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    ABSTRACT: Eclampsia is a rare condition peculiar to pregnant and puerperal women, characterized by clinical pre-eclampsia (hypertension, proteinuria, edema) and generalized seizures. Three cases of eclamptic encephalopathy are reported: CT and MRI demonstrated transient abnormalities in the cortical and subcortical regions of the posterior areas of the brain - namely, parieto-occipital lobes - associated with occasional involvement of basal ganglia and/or brainstem. Pathogenesis is still unclear. Strict similarity with the pathological findings characterizing hypertensive encephalopathy suggests that a focal impairment in cerebral autoregulation may be the cause of vasodilation and fluid extravasation leading to hydrostatic edema; selective involvement of posterior areas could be explained by their lesser degree of adrenergic innervation supporting circulatory autoregulation mechanisms.
    Acta Neurologica Scandinavica 12/1997; 96(5):277-82. · 2.47 Impact Factor
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    ABSTRACT: We describe a woman with right brain damage who denied the ownership of her left hand and of extracorporeal objects (e.g. rings) which were worn on the left hand itself. When the same objects were worn on the right hand or were held by the examiner, the patient correctly recognized them as her own. Other personal objects unrelated to the left hand (e.g. pins, earrings, comb) were always correctly recognized as her own. Thus, by inference, the mental image of one's body may include inanimate objects which had been in contact or in close proximity with the body itself. These findings provide, for the first time, experimental support to the speculative notion of an extended body schema.
    Neuroreport 01/1997; 8(1):293-6. · 1.40 Impact Factor
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    ABSTRACT: We investigated the prevalence of dementia and the apolipoprotein E (APOE) genotype distribution in the elderly of Buttapietra, a village near Verona, Italy. All residents over the age of 74 (n = 238), including those who were institutionalized, were studied using a direct-contact, single-phase design. The overall prevalence of dementia, clinically defined by DSM-III-R criteria, was 15.8 cases per 100 population, with age-specific figures increasing steeply with advancing age in both sexes. Alzheimer’s disease (AD) was the most frequent dementing disorder (43%). APOE genotyping was determined after DNA amplification by restriction isotyping. We found that the ε4 allele and the ε3/ε4 genotype were associated with all types of dementia, although only the association of ε3/ε4 with AD reached statistical significance (odds ratio 4.5, 95% confidence interval 1.3–16.1). However, as reported in other Mediterranean countries, the frequency of the ε4 allele in our population was low (8.9%), suggesting that the population-attributable risk for AD, at least for elderly individuals (≥75 years), could be small.
    Neuroepidemiology 21(2):74-80. · 2.37 Impact Factor