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Background and objective – The aetiology of Parkinson's disease remains unknown, although both genetic susceptibility and environmental factors are considered putative contributors to its origin. We performed a case–control study to investigate the association of familial and environmental risk factors with Parkinson's disease (PD). Methods – We studied 136 patients with neurologist confirmed PD and 272 age- and sex-matched controls, affected by neurological diseases not related to PD. The risk of developing idiopathic PD associated with the following familial and environmental factors: positive family history of PD, positive family history of essential tremor (ET), age of mother at subject's birth, rural birth, rural living, well water use, farming as an occupation, exposure to pesticides, head tremor, exposure to general anaesthesia and to ionizing radiations, food restriction, concentration camp imprisonment and smoking has been assessed by using univariate and multivariate statistical techniques. Results – In the conditional multiple logistic regression analysis, positive family history of PD (OR 41.7, 95% CI 12.2–142.5, P < 0.0001), positive family history of ET (OR 10.8, 95% CI 2.6–43.7, P < 0.0001), age of mother at subject's birth (OR 2.6, 95% CI 1.4–3.7, P =0.0013), exposure to general anaesthesia (OR 2.2, 95% CI 1.3–3.8, P =0.0024), farming as an occupation (OR 7.7, 95% CI 1.4–44.1, P =0.0212) and well water use (OR 2.0, 95% CI 1.1–3.6, P =0.0308) exhibited a significant positive association with PD, whereas smoking showed a trend toward an inverse relationship with PD (OR 0.7, 95% CI 0.4–1.1, P < 0.06). Conclusions – We conclude that both familial and environmental factors may contribute to PD aetiology. [ABSTRACT FROM AUTHOR]

Acute akinesia (AA) is a rare but serious complication of Parkinson's Disease (PD) 0,3% of all patients with PD). It can be related to infectious condition, surgery, or treatment changes. AA can completely recover or result in some motor deficits, and, in the most severe forms, it may lead to untreatable complications and death. Here we report the case of a 67-year-old man with PD who rapidly developed a severe akinetic state with rise of temperature (39 degrees C) and creatine phosphokinase concentration (up to 5000 mg/dL). After excluding infection diseases and other pathologies, we suspected AA and added apomorphine 50mg/die s.c. and ondansetron 8 mg i.v. The patient responded to treatment and ameliorated in few weeks. [ABSTRACT FROM AUTHOR]

Presents a medical case of speech initiation hesitation following subthalamic nucleus stimulation in a patient with Parkinson's disease. Therapeutic application of deep brain stimulation; Purpose of implanting electrodes stereotactically; Factors that lead to a reduction of spontaneous speech with fading voice volume.

Comments on the effects of cognitive abilities following the subthalamic nucleus stimulation in Parkinson's disease. Arguments on obtuseness of the physiologic effects of deep brain stimulation reversing the suppressive effects on nucleus; Confusions on the linguistic aspects of cognitive abilities in Parkinson's disease with subthalmo-internal pallidum stimulation; Need of further information on Parkinson's disease.

Mutations of the parkin gene on chromosome 6 cause autosomal recessive, early onset parkinsonism. This is the most frequent form of monogenic parkinsonism so far identified. The associated phenotypical spectrum encompasses early onset, levodopa-responsive parkinsonism (average onset in the early 30s in Europe), and it overlaps with dopa-responsive dystonia in cases with the earliest onset, and with clinically typical Parkinson's disease in cases with later onset. Despite clinical features, Lewy bodies are not found at autopsy in brains of patients with parkin mutations. The parkin protein possesses ubiquitin ligase activity, which is abolished by the pathogenic mutations. [ABSTRACT FROM AUTHOR]

Mutations of the parkin gene on chromosome 6 cause autosomal recessive, early onset parkinsonism. This is the most frequent form of monogenic parkinsonism so far identified. The associated phenotypical spectrum encompasses early onset, levodopa-responsive parkinsonism (average onset in the early 30s in Europe), and it overlaps with dopa-responsive dystonia in cases with the earliest onset, and with clinically typical Parkinson's disease in cases with later onset. Despite clinical features, Lewy bodies are not found at autopsy in brains of patients with parkin mutations. The parkin protein possesses ubiquitin ligase activity, which is abolished by the pathogenic mutations. [ABSTRACT FROM AUTHOR]

Preliminary reports in patients with Parkinson's disease (PD) showed that subthalamic nucleus (STN) stimulation was able to reverse parkinsonian state. Since 1998 we evaluated the safety and the efficacy of STN stimulation in 7 patients affected by advanced PD. All patients were included using CAPIT protocol. Motor functions and quality of life were evaluated, before and after surgery, with UPDRS and PDQ38, respectively. At the 6-month follow-up, the off medication/on stimulation UPDRS motor score improved by 50.6% and the on medication/on stimulation by 20.3%. Motor fluctuations were reduced by 57.2% and dyskinesias by 73.5%. The total L-dopa equivalent daily dose was reduced by 40.7%. PDQ38 ameliorated by 49.9%. We did not observe any perioperatory complication and only mild and tolerable side effects after stimulation. [ABSTRACT FROM AUTHOR]