370 research outputs found
Corrigendum to ‘Ethical safety of deep brain stimulation: A study on moral decision-making in Parkinson's disease’ [Park. Relat. Disord. 21 (2015) 709e716]
No full textThe authors regret that the affiliation for Claudio Pacchetti was incorrect in the above published paper. The correct affiliation details are given above.
The authors would like to apologise for any inconvenience caused
Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells
No full textHeterozygous mutations in GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are a major risk factor for sporadic Parkinson's disease (PD). Defective GCase has been reported in fibroblasts of GBA1-mutant PD patients and pharmacological chaperone ambroxol has been shown to correct such defect. To further explore this issue, we investigated GCase and elements supporting GCase function and trafficking in fibroblasts from sporadic PD patients - with or without heterozygous GBA1 mutations - and healthy subjects, in basal conditions and following in vitro exposure to ambroxol. We assessed protein levels of GCase, lysosomal integral membrane protein-2 (LIMP-2), which mediates GCase trafficking to lysosomes, GCase endogenous activator saposin (Sap) C and parkin, which is involved in degradation of defective GCase. We also measured activities of GCase and cathepsin D, which cleaves Sap C from precursor prosaposin. GCase activity was reduced in fibroblasts from GBA1-mutant patients and ambroxol corrected this defect. Ambroxol increased cathepsin D activity, GCase and Sap C protein levels in all groups, while LIMP-2 levels were increased only in GBA1-mutant PD fibroblasts. Parkin levels were slightly increased only in the PD group without GBA1 mutations and were not significantly modified by ambroxol. Our study confirms that GCase activity is deficient in fibroblasts of GBA1-mutant PD patients and that ambroxol corrects this defect. The drug increased Sap C and LIMP-2 protein levels, without interfering with parkin. These results confirm that chemical chaperone ambroxol modulates lysosomal markers, further highlighting targets that may be exploited for innovative PD therapeutic strategies
Circulating Antineutrophil Cytoplasmic Autoantibodies (anca) In 2 Cases of Tolosa-hunt Syndrome
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Is Tolosa-hunt Syndrome A Limited Form of Wegeners Granulomatosis? : Report of 2 Cases With Antineutrophil Cytoplasmic Antibodies
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Sleep disorders in Parkinson's disease
No full textSleep disorders are commonly reported by patients with Parkinson's Disease (PD) both in early and in advanced stage of illness. Furthermore, some sleep disorders, namely REM Behaviour Disorders (RBD), have been hypothesized to herald PD. Awareness of the clinical and pathophysiological importance of sleep disorders in PD has been growing in recent years. Sleep disorders are now regarded as the most frequent and disabling non-motor complications of PD and as a significant variable of PD-related quality of life. The common subjective reports of disrupted nocturnal sleep and daytime sleepiness find confirmation in the objective findings of various sleep alterations at neurophysiological investigations. Sleep alterations in PD are to be viewed from the multifactorial perspective of a picture build up by interacting factors: involvement of dopaminergic, serotoninergic, noradrenergic and cholinergic neural networks, neuro-degeneration linked to the disease itself, chronic use of antiparkinsonian drugs, sleep-related motor symptoms, aging, cognitive and psychiatric alterations, Restless legs syndrome, Periodic Limb Movements (PMLs) and sleep-disordered breathing. The use of ad hoc questionnaires and scales is advisable for the evaluation of disordered sleep in PD patients for preliminary screening of sleep disorders in PD. In a few cases neurophysiological investigations (i.e. the video-polysomnography in primis) are needed in order to confirm a diagnosis of sleep disorder in PD. It is true particularly in diagnosing RBD. The correct diagnosis unlock the way to the correct treatment, and combined pharmacological and non-pharmacological protocols appear to be particularly suitable in the treatment of sleep disorders in PD
Interictal, potentially misleading, epileptiform EEG abnormalities in REM sleep behavior disorder
No full textStudy Objectives: To examine the implications of interictal epileptiform abnormalities (IEA) in idiopathic REM-sleep behavior disorder (RBD), particularly the risk of misdiagnosing RBD episodes as epileptic nocturnal seizures. Design: Observational analysis and review. Setting: Tertiary sleep center. Patients: Thirty patients (28 men; mean age 66.3 ± 7.5 years) referred to our sleep unit for a definite diagnosis of nocturnal sleep-related motor and behavioral paroxysmal episodes. Interventions: N/A. Measurements and Results: All the patients were found to be affected by idiopathic RBD according to standard clinical and videopolysomnographic criteria. IEA(sporadic, fronto-temporal sharp-waves) were detected in 8 subjects (26.6%) during routine electroencephalogram and/or nocturnal in-lab videopolysomnography with extended EEG montages. In 2 of these 8 patients, IEA occurred during REM sleep. Conclusions: When only the clinical history is considered, RBD episodes may be confused with nocturnal epileptic focal seizures. The presence of IEA either on routine awake electroencephalograms, or during sleep electroencephalograms, may add support for a diagnosis of epileptic nocturnal seizures. Our data show that IEA may occur in wake and sleep (non rapid eye movement and rapid eye movement sleep) tracings of subjects with episodes of idiopathic RBD. However full-night extended electroencephalogram montages and polysomnography recording of an episode proved useful in establishing a definite diagnosis of RBD in these potentially misleading cases. Comparison of the patients' demographic data and RBD features revealed no differences between RBD with IEA and without IEA. On this basis-and given that these abnormalities have also been described in elderly people with wakefulness-related nonepileptic disorders-IEA in RBD could simply be interpreted as a nonspecific phenomenon, probably related to brain aging
The position of the head in space:akinematic analysis in patients with cervical dystonia treated with botulinum toxin.
No full textCopper deficiency in Wilson's disease: Peripheral neuropathy and myelodysplastic syndrome complicating zinc treatment
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