The relationship between cerebral vascular disease and parkinsonism: The VADO study.

BACKGROUND: The observation of gait abnormalities, parkinsonism and vascular lesions in elderly patients is often reported as vascular parkinsonism (VP). However the status of striatal dopamine transporter (DAT) and the effects of brain vascular lesions on motor features and levodopa responsiveness are poorly defined. METHODS: We recorded clinical features, chronic response to levodopa and vascular risk factors in a cross-sectional cohort of consecutive elderly patients with possible Parkinson's disease (PD) or VP recruited in 20 centers in Italy. RESULTS: We included a total of 158 patients. Onset of motor symptoms was asymmetric in 93 (59%) and symmetric in 65 patients (41%). Symmetric motor onset was associated with greater disease severity. Chronic levodopa response was positive in 75 (47.8%) and negative in 82 patients (52.2%). A negative response to levodopa was associated with greater frequency of symmetric onset of motor symptoms, worst disease severity, absence of dyskinesia and greater number of vascular risk factors. Frontal lobe showed largest vascular load. Striatal DAT was normal in 48 (30.4%) and abnormal in 110 (69.6%) patients. Patients with normal DAT binding showed higher vascular load at MRI. Significant predictive factors of worst disease severity and negative response to levodopa were hypertension, vascular lesions in basal ganglia/periventricular regions, and normal DAT uptake. CONCLUSIONS: Multiple cerebral vascular lesions modify clinical presentation and severity in patients with parkinsonism and this is underlined by specific risk factors primarily hypertension. Striatal DAT assessment is helpful in identifying patients where therapy benefit is less likely.

Gaucher's disease with Parkinson's disease: clinical and pathological aspects.

The association between type 1 Gaucher disease and PD has been reported in the literature. The clinical picture is characterized by the predominance of bilateral akinetic-rigid signs and poor response to levodopa therapy. The authors describe four patients (two siblings) with type 1 Gaucher disease presenting with the following signs of typical PD: asymmetric onset of rigidity, resting tremor, bradykinesia, and a favorable response to Parkinson therapies.

Familial and environmental risk factors in Parkinson's disease: a case-control study in north-east Italy.

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.

The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in 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.

Chronic bilateral electrical stimulation of the subthalamic nucleus for the treatment of advanced Parkinson's disease.

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.

Possible risk factors for primary adult onset dystonia: a case-control investigation by the Italian Movement Disorders Study Group.

OBJECTIVES: Little is known about the aetiology of idiopathic adult onset dystonia. The Italian Movement Disorders Study Group promoted a case-control study on some hypothetical risk factors including past medical events, life events, life habits, occupational hazards, and family history of dystonia, parkinsonism, and tremor. METHODS: Cases affected by idiopathic adult onset dystonia (age at symptom onset >20 years, duration of disease >one year and

[Atrial fibrillation and acute ischemic cerebrovascular disease. Study of 500 cases of cerebral infarction and transient cerebral ischemic attacks]. / Fibrillazione atriale e vasculopatie cerebrali acute di tipo ischemico. Studio su 500 casi d'infarto cerebrale e crisi ischemiche cerebrali transitorie.

The prevalence of chronic atrial fibrillation (AF) and the clinical features in 151 patients with transient ischemic attacks (TIA) and in 349 patients with cerebral infarct have been analyzed. AF was found in 11.9% of patients with TIA and in 14.9% of patients with cerebral infarct. The difference was not significant (NS). In patients without AF, the carotid artery TIAs represent 70.6% of all TIAs, while the vertebral basilar artery TIAs account for 29.4%. When AF is present, 88.9% of all TIAs belong to the carotid artery and 11.1% to the vertebral basilar artery circulatory system (NS). TIAs lasting less than 10 minutes are 42.1% when AF is not present, while when AF is present they are only 11.1% (p less than 0.001). In patients without AF 79% of TIAs last less than one hour, while in patients with AF the percentage goes down to 38.9% (p less than 0.001). In patients with or without AF, the chronic digitalis therapy before the hospitalization does not affect in any way the occurrence of TIA or cerebral infarct. These results suggest that emboli from the atrium are more likely to cause cerebral infarcts than TIAs and when they cause TIAs more usually they last hours than minutes.

[Partial paralysis of the right lumbar plexus caused by a traumatic hematoma of the ileo-psoas muscle]. / Paralisi parcellare del plesso lombare di destra da ematoma traumatico del muscolo ileo-psoas.

The authors show a case of paralysis of right femoral nerve, subsequent to extrinsic compression due to traumatic hematoma of ileo-psoas muscle. What emerges from the revitwing of the international literature, as well as from the personal experience is both a complete nosographic framing and the necessity for an early surgical intervention.

[Smoking and Parkinson's disease]. / Abitudine al fumo e morbo di Parkinson.

Reports that tobacco smokers are at a lower risk of incurring Parkinson's disease (PD) than are non smokers and that a high percentage of Parkinsonians stop smoking before the onset of the disease, were reinvestigated by study of 110 hospital patients with PD and 110 other patients. In contrast to controls, fewer patients ever smoked cigarettes (39.1% versus 7.3%); moreover, many Parkinsonians (82%) stopped smoking before the onset of the disease. The high percentage of patients with PD who stopped smoking might by explained by premorbid behavioural modifications related to the biochemical cerebral changes already present in the preclinical stage of the disease.