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21.
Andrew J Lawrence Andrew D Blackwell Roger A Barker Francesca Spagnolo Luke Clark Michael R F Aitken Barbara J Sahakian 《Movement disorders》2007,22(16):2339-2345
Dopamine replacement therapy (DRT) for Parkinson's disease (PD) has recently been linked to the development of a number of nonmotor behavioral control problems. Punding, one of these nonmotor problems, is a term used to describe complex, purposeless stereotyped behaviors such as the repetitive handling or sorting of objects. A self-report questionnaire was adapted to assess punding in the context of dysfunctional hobby-related activities. We report the results of a survey of PD outpatients from a PD research clinic (n = 141) and non-PD controls (n = 103); conducted to identify clinical and psychological factors predictive of punding behaviors. The PD group reported hobbies and activities, which scored significantly higher on the Punding Scale than controls. Higher impulsivity, poorer disease-related quality of life, younger age of disease onset, and concomitant daily medication dosage from dopamine receptor agonists were independently predictive of higher Punding Scale scores in the PD group. These findings are similar to those seen in dopamine dysregulation syndrome, and provide further evidence for the role of impulsivity and age at disease onset in DRT-related nonmotor behavioral problems in PD. 相似文献
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Currently, there is debate in the clinical literature as to whether defects in vertical gaze are a consequence of normal ageing or a component of an underlying neurodegenerative disorder. Although pathological changes have been demonstrated in diseased subjects, no study to date has addressed the question of normal ageing effects. In this retrospective study, we examined 23 neurologically and pathologically normal subjects (age 18-91). Using an unbiased, frame-based sampling method, we quantified neuronal and glial cell densities in 10 young (<50) and 13 aged (>65) subjects in the rostral interstitial nucleus of the medial longitudinal fasciculus (riMLF), the key premotor substrate in the vertical gaze pathway. We found no statistically significant difference in neuronal density, glial cell density, or neuron-to-glial cell ratios between the young and the aged. We conclude, therefore, that neuronal loss, neuronal atrophy, or gliosis in the riMLF are not consequences of normal ageing. 相似文献
24.
Paola Sarchielli Andrea Alberti Beatrice Gallai Francesca Coppola Antonio Baldi Ardesio Floridi Virgilio Gallai 《The journal of headache and pain》2002,3(3):129-135
Little has been done to investigate the biochemical basis of chronic daily headache (CDH). Our group has recently demonstrated
an increase in the cerebrospinal fluid (CSF) levels of nerve growth factor (NGF) in CDH patients, supporting the involvement
of this growth factor in the abnormal processing of head pain in this pathological condition. Other members of the neurotrophin
family, especially brain-derived neurotrophic factor (BDNF), have been hypothesized as being involved in the development of
chronic head pain in patients affected by CDH, but so far no data are available on this subject. BDNF, NGF and glutamate levels
were determined in the CSF of 25 patients affected by CDH with a previous history of migraine. These levels were compared
with those of a group of 20 control subjects, for whom the CSF examination and other instrumental investigations excluded
diseases of the central and peripheral nervous systems. Significantly higher levels of BDNF, NGF and glutamate were found
in CDH patients compared with control subjects (p<0.0001, p<0.0002 and p<0.001, respectively). A significant positive correlation emerged between CSF values of BDNF and those of NGF (r=0.61, p<0.001) and glutamate (r=0.44, p<0.025) in CDH patients. No significant differences were detected in BDNF, NGF and glutamate levels between CDH patients with
analgesic overuse and those without. These results support the involvement of BDNF in CDH through the potentiation of glutamatergic
transmission involved in the processing of head pain. The significant correlation between BDNF and NGF levels suggests that
NGF-mediated up-regulation of BDNF in central sites involved in long-term sensitization plays a key role in persistent head
pain in CDH patients.
Correspondence to P. Sarchielli 相似文献
25.
Studying Weak Central Coherence at Low Levels: Children with Autism do not Succumb to Visual Illusions. A Research Note 总被引:15,自引:0,他引:15
Francesca G.E. Happé 《Journal of child psychology and psychiatry, and allied disciplines》1996,37(7):873-877
While anecdotal reports of abnormal perceptual experiences in autism abound, there have been to date no experimental studies showing fundamental perceptual peculiarities. The present paper reports results from a first study of low-level visual integration in autism. Twenty-five subjects with autism, 21 normal 7- and 8-year-olds, and 26 children with learning difficulties were asked to make simple judgements about six well-known visual illusions. Two conditions were used, in an attempt to explore group differences; standard two-dimensional black and white line drawings, and the same figures augmented with raised coloured lines. The subjects with autism were less likely to succumb to the two-dimensional illusions than were the other groups, and were less aided by the three-dimensional disembedded' condition. These striking results are discussed with reference to the 'central coherence' account of autism. 相似文献
26.
27.
Daniela Concolino Simona Sestito Francesca Falvo Giusy Romano Miriam Ceravolo Elisa Anastasio Licia Pensabene Elisa A. Colombo Lidia Larizza 《European journal of medical genetics》2019,62(1):73-76
Clericuzio-type poikiloderma with neutropenia is a well-defined nosological entity, but despite a remarkable number of clinical reports, no long term follow-up data has been presented to date regarding patients with this rare condition.Here we describe the results of clinical follow-up of three siblings, one male (Patient 1) and two females (Patients 2 and 3), subsequent to their first clinical and then molecular diagnosis of Clericuzio-type poikiloderma with neutropenia syndrome due to mutation of USB1gene. Patient 1 always expressed the most severe phenotype, while patients 2 and 3 showed an intermediate and mild phenotype, respectively, as observed since their first clinical evaluation. None of the patients developed skin cancer and/or myelodysplastic disorders considering the peripheral haematological findings. Lens opacity, never reported before, was found in two of the three patients.The long term follow-up observations confirm the stability over time of the pronounced intra-familial heterogeneity of clinical manifestations observed prior to and upon molecular diagnosis. We conclude that prolonged follow-up is an adjunct tool to monitor intra-familial variability of PN clinical spectrum which may favour surveillance of more serious complications of the disease among siblings, when a patient-specific clinical expressivity is present. 相似文献
28.
Palma E Muscoli C Mancuso E Sculco F Sacco I Alecce W Costa N Colica C Cristiano D Rotiroti D Mollace V 《Neuroscience letters》2004,368(1):112-115
In the last few decades, cholinergic connections located into posterior hypothalamus (PH) have been implicated in the central regulation of blood pressure (BP). Here we investigated the role of nitric oxide (NO) in the blood pressure response elicited by infusion of physostigmine into PH of normotensive rats. In freely moving rats, physostigmine (60-200 nM) produced a dose- and time-dependent elevation of BP which was antagonized by the antimuscarinic drug scopolamine (60 nM) and by L-NAME (100 microM), an inhibitor of NO synthase, both infused into the same site. In contrast, L-arginine (L-Arg; 100 microM), the precursor of NO, and glyceryltrinitrate (GTN; 140 nM), an NO donor, infused into the PH did not affect physostigmine-related pressor response. In rats pre-treated with Escherichia coli lipopolisaccharide (LPS; 0.5 microg i.p. 24h beforehand), however, scopolamine, L-Arg and GTN produced a decrease of BP, an effect antagonized by L-NAME. This suggests that NO only slightly modulates physostigmine-related pressor response elicited into PH of LPS-untreated rats. In contrast, the release of large amounts of NO generated by pre-treating rats with LPS, down-regulates cholinergic connections located at the PH, thus contributing in the central dysregulation of BP which can be found when high circulating endotoxin levels may occur. 相似文献
29.
30.
Lanari M Papa I Venturi V Lazzarotto T Faldella G Gabrielli L Guerra B Landini MP Salvioli GP 《Journal of medical virology》2003,70(4):628-632
Human herpesvirus 6 (HHV 6) has neurotropic and neuroinvasive properties. The virus has been found in the cerebrospinal fluid of many children with aseptic meningoencephalitis. Intrauterine transmission has been documented by HHV 6 DNA detection in cord blood specimens of apparently healthy newborns and in fetuses following spontaneous abortions. A patient is described with early neonatal afebrile seizures resulting from a congenital HHV 6 variant B infection disclosed by repeated detection of viral genome by polymerase chain reaction (PCR) in cerebrospinal fluid in the first days of life. At follow-up, magnetic resonance imaging (MRI) studies disclosed hyperintensities in the periventricular white matter and basal ganglia, associated with cerebral atrophy. Further follow-up at 18 months revealed poor neurological outcome with mild neurodevelopmental retardation, strabismus and hypertonia of legs. This report provides evidence of neurological involvement after HHV 6 vertical transmission, and the association with neurological sequelae. 相似文献