Cilia R.,Parkinson Institute |
Rossi C.,University of Pisa |
Frosini D.,University of Pisa |
Volterrani D.,University of Pisa |
And 10 more authors.
PLoS ONE | Year: 2011
Objective: To investigate dopaminergic function in a large cohort of patients with corticobasal syndrome (CBS) and describe its relationship with clinical features in comparison to Parkinson's disease and healthy control subjects. In addition, we assessed prevalence and features of individuals with CBS and in vivo evidence of preserved nigral neuronal density. Background: Substantia nigra pars compacta (SNc) neuronal degeneration is a mandatory pathological criterion for definite corticobasal degeneration, though sporadic autopsy-proven cases with ante-mortem imaging evidence of preserved nigral terminals have been recently described. Methods: In this multicenter study, we investigated presynaptic nigrostriatal function in 36 outpatients fulfilling clinical criteria for "probable corticobasal degeneration" (age 71±7.3 years; disease duration 3.9±1.6 years), 37 PD and 24 healthy control subjects using FP-CIT single photon emission computed tomography. Clinical, neuropsychological, and magnetic resonance imaging assessment was performed to characterize CBS patients. Linear discriminant analysis was used to categorize normal vs. pathological scans. Results: FP-CIT binding reduction in patients with CBS was characterized by larger variability, more uniform reduction throughout the striatum and greater hemispheric asymmetry compared to PD. Moreover, there was no significant correlation between tracer uptake values and clinical features such as disease duration and severity. Despite all CBS subjects showed obvious bilateral extrapyramidal signs, FP-CIT uptake was found to be normal bilaterally in four CBS patients and only unilaterally in other four cases. Extensive clinical, neuropsychological and imaging assessment did not reveal remarkable differences between CBS subjects with normal vs. pathological FP-CIT uptake. Conclusions: Our findings support the hypothesis that extrapyramidal motor symptoms in CBS are not invariably associated with SNc neuronal degeneration and that supranigral factors may play a major role in several cases. CBS individuals with normal FP-CIT uptake do not show any clinical or cognitive feature suggesting a different pathology than CBD. © 2011 Cilia et al.
Massara A.,University of Ferrara |
Bonazza S.,University of Ferrara |
Castellino G.,University of Ferrara |
Caniatti L.,Neurological Unit |
And 4 more authors.
Rheumatology | Year: 2010
Objectives: To perform an observational retrospective cross-sectional case-control study to evaluate prevalence, clinical patterns and outcomes of CNS involvement in a large cohort of primary SS (pSS) patients. Methods: A total of 424 pSS patients, diagnosed according to the 2002 criteria proposed by the American-European Consensus Group, were checked for CNS involvement after exclusion of secondary causes. Demographic, clinical, seroimmunological data were compared between patients with and without CNS involvement. Neuroimaging data were also analysed. Results: CNS involvement was detected in 25 (5.8%) patients (24 females and 1 male) both at disease onset (52%) and later (48%) with a mean latency after diagnosis of 7 years. Diffuse (40%), focal/multifocal (36%), multiple sclerosis (MS)-like disease (20%) and isolated optic neuritis (4%) were the most common CNS clinical pictures. Disease duration, lung involvement and decreased C4 were associated with CNS involvement, while articular manifestations were more frequently observed in patients without neurological complications. Most cases had an acute, often recurrent course with spontaneous remission or only mild neurological impairment. Conclusions: CNS involvement represents a rare but not negligible complication of pSS, which may occur with a bimodal temporal pattern, both at onset and later, prompting attention in the differential diagnosis of apparently isolated neurological syndromes. Lung involvement emerged as the strongest risk factor for CNS involvement with a relative risk of 7.9, along with disease duration and decreased C4. © The Author 2010.
D'Orsi G.,University of Foggia |
Trivisano M.,University of Foggia |
Luisi C.,University of Foggia |
Demaio V.,Neurological Unit |
And 10 more authors.
Epilepsy and Behavior | Year: 2012
Epileptic seizures, movement disorders and breathing disturbances may be observed in Rett syndrome, and correct diagnosis is mandatory for the management. We evaluated the usefulness of video-polygraphy in the differential diagnosis between epileptic and non-epileptic paroxysmal events in eight patients with Rett syndrome. Based on video analysis, myoclonic seizures were usually misdiagnosed as movement disorders and stereotypies; the events identified by parents as generalized tonic-clonic seizures included episodes of motor activity and breathing abnormality. Myoclonic seizures aggravated by inappropriate treatment were evident in four patients; hyperventilation and apnea during wakefulness were present in all patients, while central sleep apneas were present in one patient; sinus tachycardia and cardiac arrhythmias emerged in six patients; cortical myoclonus was disclosed in five patients. In Rett syndrome, video-polygraphy is essential in characterizing the clinical features of paroxysmal events, determining autonomic dysfunctions, documenting myoclonic motor phenomena, and evaluating the responses to the treatment of epilepsy. © 2012 Elsevier Inc.
PubMed | Hospital of Prato, Neurological Unit, University of Florence and Agenzia Regionale Sanita
Type: | Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | Year: 2017
Overall prevalence of epilepsy ranges from 4 to 10 cases per 1000. Italy lacks recent epidemiological studies on large populations. In the present study, prevalence of epilepsy has been assessed in Tuscany, an Italian Region with 3,750,000 habitants, implementing an algorithm based on administrative data from the Regional Information Health System. To identify patients with epilepsy, we used at least one the following criteria: (a) at least one EEG and at least two dispensations of any antiepileptic drug (AEDS) at a minimum distance of 12months; (b) at least two dispensations of one specific AED (authorized for use only for patients with epilepsy) at a minimum distance of 12months; and (c) hospital admission for epilepsy or recurrent relapses (cod. ICD-IX-345.*). This algorithm was validated through comparison with lists of true patients with epilepsy and subjects without neurological disorders (gold standard). 35,950 cases were identified. Total crude prevalence was 9.6/1000. Prevalence increased in older patients up to 16/1000 without gender differences. Overall sensitivity of the algorithm was 87.3%, and specificity was 99.9%. This algorithm identifies patients with epilepsy with acceptable sensitivity and specificity and can be used to assess the burden of disease and for monitoring health services.
Wawrzynek A.,Med University |
Dobiala J.,Neuropsych Hospital |
Wender M.,Neurological Unit |
Kozubski W.,Med University |
And 2 more authors.
Neurologia i Neurochirurgia Polska | Year: 2014
TNFα, a significant immune mediator, may contribute to the initiation and progression of the ischemic stroke. Genetics of TNFα molecule may have an important role in the risk of ischemic stroke. The most interesting aspects of the G-308A polymorphism remain unexplained; there are many discrepancies between the results. Differences in the ethnicity of the studied cohorts may be taken as one of the possibility. Our study material consisted of 101 patients with ischemic stroke, including 30% classified as lacunar stroke. The diagnosis was based on the presence of rapidly developing neurological signs lasting longer then 24 h and confirmed by neuroimaging matter. All patients were of Polish Caucasian origin. Randomly selected 100 individuals without any sign of the vascular disease of central nervous system were taken as the control material. The frequency of polymorphism G-308A in TNFα gene was determined as described by Rubattu et al. . The genotype distribution in our material was similar and statistically insignificant between patients and controls. The heterozygotic G/A genotype was detected in 9% of patients and in 15% of control materials, homozygotic A/A was found in 5% of patients and only in one of control and G/G in 87% of patients and in 84% of control individuals. Our results are negative with respect to the impact of 308 TNFα polymorphism on the risk of ischemic stroke in Caucasians living in Poland. © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.
Cheldi A.,Neurological Unit |
Ronchi D.,University of Milan |
Bordoni A.,University of Milan |
Bordo B.,Neurological Unit |
And 10 more authors.
BMC Neurology | Year: 2013
Background: POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy.Case presentation: We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum.Conclusion: The lack of available data hampers a definite diagnosis in our patient as well as makes it difficult to compare MELAS, which is a clearly defined clinical syndrome, with POLG1-associated encephalopathy, which is so far a purely molecularly defined syndrome with a quite heterogeneous clinical picture. However, the present report contributes to expand the phenotypic spectrum of POLG1 mutations underlining the importance of searching POLG1 mutations in patients with mitochondrial signs and MELAS like phenotypes but negative for common mtDNA mutations. © 2013 Cheldi et al.; licensee BioMed Central Ltd.
Marra C.,Catholic University of the Sacred Heart |
Villa G.,Catholic University of the Sacred Heart |
Quaranta D.,Catholic University of the Sacred Heart |
Valenza A.,Neurological Unit |
And 2 more authors.
Journal of the International Neuropsychological Society | Year: 2012
Several authors have recently shown that anterograde amnesia is often associated with semantic memory impairment in amnesic MCI patients. Similarly, after the MCI condition, some patients who convert to Alzheimer's disease (AD) show the classic onset (cAD) characterized by the impairment of memory and executive functions, whereas other AD patients show isolated defects of episodic and semantic memory without deficits in other cognitive domains. The latter have been considered an AD variant characterized by focal Temporal Lobe Dysfunction(TLD). The aim of the present study was to assess the differences in disease progression between cAD and TLD. For this purpose a continuous series of newly diagnosed probable AD patients presenting as cAD (n = 30) and TLD (n = 25), matched for severity, and 65 healthy controls underwent a comprehensive neuropsychological evaluation at baseline; TLD and cAD were re-evaluated at a 24-month follow-up. At follow-up, TLD patients showed no significant worsening of cognitive functions, whereas cAD subjects displayed a significant worsening in all explored cognitive domains. In conclusion, our results confirm that probable AD presenting as TLD represents a specific onset of AD characterized by a slower rate of progression. Copyright © 2011 INS. Published by Cambridge University Press.
Camerlingo M.,Neurological Unit |
Romorini A.,Presidio |
Ferrante C.,Neurological Unit |
Valente L.,Neurological Unit |
Moschini L.,Neurological Unit
Neurological Sciences | Year: 2010
The objective of this study is to investigate relationship between migraine and cerebral infarction in young people. Patients aging 16-44 years, referred for stroke and age- and gender-matched controls were investigated for migraine following the International Headache Society criteria. Included people were 314 strokes and 314 controls. Each group consisted of 150 men and 164 women. Of the 105 persons with migraine (16.7%), 57 had migraine with aura (9.1%). In women, migraine with aura was related to stroke [35 women among strokes (21.3%) vs. 9 among controls (5.5%), P<0.0001], whereas migraine without aura was not. After multivariate analysis, migraine with aura remained independently associated with stroke together with hypertension, and the estro-progestinic utilization. In men, migraine was not associated with stroke. In conclusion, migraine with aura appears to be associated with ischemic stroke in young women, independently from other common risk factors. © Springer-Verlag 2009.
Bizzarro A.,Catholic University of the Sacred Heart |
Guglielmi V.,Catholic University of the Sacred Heart |
Lomastro R.,Catholic University |
Valenza A.,Neurological Unit |
And 6 more authors.
Journal of Neural Transmission | Year: 2010
Alzheimer's disease (AD) is characterized by a significant reduction in Acetylcholinesterase and an increase in ButyrylCholinesterase (BuChE) activity. The existence of polymorphic regions on the BuChE gene has been previously described; the most frequently found polymorphism is the so-called K variant, which leads to a 30% decreased enzymatic activity. Different studies reported a positive association between K variant and AD, strongest among late-onset AD and Apolipoprotein E (APOE) e4 carriers. We analyzed APOE and BuChE polymorphisms in 167 AD and 59 fronto-temporal dementia (FTD) patients compared with 129 healthy controls (HC). We reported a significantly lower frequency of the BuChE K variant in AD compared with HC and FTD and a significant increased frequency of the K variant in FTD. These results are in agreement with the known increase of the BuChE activity in AD and support the evidence of different molecular pathways involved in the pathogenesis of AD and FTD. © Springer-Verlag 2010.
PubMed | Neurological Unit
Type: Journal Article | Journal: Annals of dyslexia | Year: 2013
The discovery of biological substrates underlying medical conditions is an important step for their better understanding and for the design of appropriate medical therapies. In the case of developmental dyslexia pedagogic treatment may fail, thus creating a group of individuals in whom medical approaches may be entertained. The biological substrate(s) of developmental dyslexia has yet to be specified, although a few clues are beginning to emerge. In this review I consider the issue of cerebral dominance and brain asymmetry, the development of the cerebral cortex and examples of aberrancy, and diseases of the immune system, all of which relate to recent anatomical and epidemiological findings in developmental dyslexia. These discoveries have been able to lead to the creation of testable hypotheses which, after appropriate experimental work, are apt to enhance our current understanding of this and other developmental learning disorders.