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Alpha-synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early-onset disease in this population. The minor allele "G" at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression., ((c) 2009 Movement Disorder Society.)

Objective: To correlate autopsy findings with the clinical course and disability profile in clinically diagnosed longitudinally followed autopsied essential tremor (ET) patients., Methods: All ET patients followed by one neurologist between 1970 and 2001 who came to autopsy were included. Clinical features and disability were recorded prospectively. Autopsy studies were performed by a qualified neuropathologist., Results: Twenty cases (10 men and 10 women) had ET onset between childhood and age 68 (median 46.5 years). Six cases had additional features of Parkinson syndrome (PS), with presence of bradykinesia, rigidity, and rest tremor (RT). These included progressive supranuclear palsy (PSP; n = 2), drug-induced parkinsonism (n = 2), idiopathic Parkinson disease (PD; n = 1), and basal ganglia status cribrosus (n = 1). Of the remaining 14 ET cases, 6 had additional RT but no bradykinesia or rigidity. Ten of these 14 (71%) reported physical disability. Eleven of the 14 (79%) had only upper limb (UL) tremor at onset, and 8 of these 11 (73%) had subsequent cranial extension of tremor. Two patients clinically had mild cerebellar ataxia but no cerebellar histologic abnormality. There was no consistent brain pathology in the ET or ET + RT cases., Conclusions: UL tremor was the most common onset, which often progressed to the cranial musculature. Functional disability and psychological distress were common in these patients. Functional disability was related to the UL tremor. Six of 20 (30%) had additional features of PS. Six of the remaining 14 (43%) had ET and RT; there was no identifiable pathology in these cases. The risk of PD in ET cases was comparable with that in the general population. PSP in two cases was incidental comorbidity.

Multicase families are frequently utilized in studies of movement disorders (MDs). We report families with two or more MD cases seen at the Movement Disorder Clinic, Saskatoon (MDCS). In 30% of the MD probands, there was either a history or documentation of at least one secondary MD case in the family. Only those MD cases that were seen at the MDCS were considered in this study. A total of 56 probands and 77 secondary MD cases were seen at the MDCS between 1968 and 1996. In 24 (31.2%) of the secondary cases, the diagnosis was different from that in the proband. In 46 families (82%), only one secondary case was seen, and the diagnosis was concordant with the proband in 71.7%. In the remaining 10 families with two or more secondary cases, the diagnosis was concordant in 64.5% of cases. The largest subgroup was Parkinson's disease (PD)--40 probands and 53 secondary cases. of these secondary cases, 73.6% had PD. The concordance rate was 91% in essential tremor, but only 12.5% if the proband had essential tremor + parkinsonism. Considering that a large proportion of secondary cases have a diagnosis discordant with the proband, we recommend that, whenever possible, MD diagnosis in secondary cases be based on clinical assessment.

The proportion of the population over age 65 years is steadily increasing in Canada and the elderly who are unable to live independently are frequently institutionalized in chronic care facilities. We report our observations on movement disorders (MD) in an institutionalized elderly population of Saskatchewan. A representative sample of 67 subjects aged > or = 65 years had a detailed neurological evaluation on three separate occasions. MD were detected in 13 (19%) cases. The majority, 11 (16%), were females. Seven (10%) had essential tremor, 4 (6%) Parkinson's disease and 2 (3%) had drug-induced parkinsonism.

We studied movement disorders (MD) in community residents of Saskatchewan aged > or = 65 years. A representative sample of 70 individuals had detailed neurological evaluation. Those who had definite and possible MD at first examination had a second neurological assessment by a senior neurologist. The most prevalent MD was essential tremor (ET) (14%) followed by Parkinson's disease (PD) (3%). The marked difference in prevalence ratios for PD and ET are attributed to: (a) higher incidence of ET in the general population; (b) a greater possibility that most, if not all, ET cases would reside in the community whereas a sizable proportion of elderly PD cases may be institutionalized, and (c) shortened survival in PD but a normal life expectancy in ET.

We examined forty-eight midbrain sections from normal brains containing SN at the level of the exiting fibers of the IIIrd cranial nerve. The cases were classified into two groups based on at least 80% life exposure to either rural or urban provincial environments, respectively. Linear regression analysis revealed a lower SN neuron count in the rural group by age 20, although this difference was not statistically significant. There was a 34% decline in urban and a 17% decline in rural residents' neuron counts between ages 20 and 80. These results are consistent with our previous studies, which indicate a higher risk of PD in the Saskatchewan rural population. We believe that studies of environmental factors in early life will provide the most rewarding clues to the etiology of PD.

The cause of idiopathic Parkinson's Disease (PD) is not known but it is believed to be related to some environmental agent(s). Given a long preclinical interval and onset of symptomatology around age 60 years, it becomes impossible to identify and analyze all prior environmental factors satisfactorily. To circumvent these difficulties we evaluated the childhood environment in those PD patients whose symptoms began at age 40 years or earlier. Twenty-one such cases were born and raised in the province of Saskatchewan. Nineteen of these 21 patients spent the first 15 years of life exclusively in rural Saskatchewan. Detailed population analysis indicates a strong predisposition to early onset idiopathic Parkinson's Disease (EPD) in those raised in rural areas (p = 0.0154). All but one case utilized exclusively well water for the first 15 years of life--a trait significantly different from that expected in the provincial population. It is concluded that rural Saskatchewan environments contribute to EPD and that well water used in childhood should be considered as a potential vehicle for the etiological agent.

A study of neurological disorders and services is presented. The ten most common neurological diagnoses were headache, back disorders, neuropathy, cerebrovascular disease, dizziness/insomnia, myopathies, soft tissue disorder, intracranial injury, neurological symptoms (numbness, etc.), and Parkinson's disease. The pattern of diseases is similar to that reflected in the prevalence of those in the US. The annual beneficiary rate was 1.6% of the population, the median age was 45 years, and the majority (52%) served were females. There were 1.8 annual services per beneficiary and the median hospital stay was 9 days. Ambulatory care accounted for the majority (62%) of services and 64% of the inpatient services were delivered by neurosurgeons. The majority of the admissions (61%) and of the ambulatory services (55%) were provided in Regina.