- Email: [email protected]
640: Familial aggregation and age of onset in Parkinson’s disease
1032
Abstracts / Journal of Clinical Neuroscience 14 (2007) 1009–1040
640: Familial aggregation and age of onset in Parkinson’s disease Anna N. Sellbach, Peter A. Silburn, Richard S. Boyle, George D. Mellick; Princess Alexandra Hospital and University of Queensland Introduction: Family history is consistently identified as one of the strongest independent risk factors for Parkinson’s Disease (PD). Despite this, the role of genetic factors in the development of PD remains controversial. This study provides a comprehensive analysis of family history in PD. We propose that early onset PD is associated with higher rates of familial aggregation. Methods: A consecutive series of PD patients (probands) was recruited from two neurology clinics in Brisbane. All participants completed a detailed telephone questionnaire from which extensive family pedigrees were constructed. Reliability of the family history information was assessed using the family study method in which relatives were screened for PD directly or by proxy and examined where possible. This was applied to families in which there was at least one contactable relative in Brisbane. A matched control group (151 recruits from the Commonwealth electoral roll) was also assessed for family history. Results: 207 PD probands participated in the study. Family history information was collected on 1066 relatives and 164 were assessed via the family study method. 51 probands (24.6%) reported a positive family history and 25 probands (12.1%) reported an affected first degree relative. Positive and negative predictive values were 100% and 92.3% respectively. Clinical characteristics did not vary according to family history or age of onset. Family history of PD was more common in cases than controls. The odds ratios (ORs) for positive family history increased as age of onset decreased. The ORs for the third and first tertile groups were 2.23 (95% CI = 1.05–4.74) and 3.12 (95% CI = 1.52–6.44), respectively. Conclusion: Our study finds that genetic factors are important in PD regardless of age of onset, yet are strongest amongst those with early onset disease.
Methods: A consecutive PD case series was collected. All participants completed an extensive questionnaire detailing family history and contact details for relatives. Consenting relatives were screened for PD and underwent clinical examination when possible. Results: 32 probands and their 180 siblings and parents were selected. 164 relatives (91.1%) were screened directly or by proxy. 51 living relatives (46.3%) were examined. 6 probands (18.8%) reported a first degree relative with PD. 18 relatives (11.0%) screened positive for PD. The sensitivity of proband report for positive family history was 40% and specificity was 100%. Positive and negative predictive values were 100% and 92.3% respectively. Of the 51 relatives examined, 4 (7.8%) met a clinical diagnosis of PD and one had essential tremor. A further 21 relatives (41.2%) had at least one cardinal sign of PD. Bradykinesia, rigidity and postural instability were found with similar frequencies. Whilst not reaching statistical significance, bradykinesia and postural instability were more common with increasing age. Rigidity was distributed evenly across age groups. Isolated resting tremor was detected in only one relative. Age did not differ significantly between those with a normal examination, parkinsonism or PD. Conclusion: Our study confirms that family history is frequently and accurately reported by those with PD but that report alone has a tendency to underestimate the extent of family history. Furthermore, parkinsonism is common amongst family members, manifesting predominately as bradykinesia and rigidity. Clinical phenotyping in PD will play a vital role in understanding the extent and relevance of family history as a risk factor for PD. doi:10.1016/j.jocn.2007.02.072
642: Population prevalence of patients with Parkinson’s disease in the Australian community Prachi M. Mehta a, Annette Kifley b, Michael M. Jones a, Jie J. Wang b, Paul Mitchell b, Carolyn M. Sue a; a Royal North Shore Hospital and University of Sydney; b Centre for Vision Research
doi:10.1016/j.jocn.2007.02.071
641: Parkinson’s disease and the meaning of family history Anna N. Sellbach, Peter A. Silburn, Richard S. Boyle, George D. Mellick; Princess Alexandra Hospital and University of Queensland Introduction: People with Parkinson’s disease (PD) commonly report a positive family history. Family history has been confirmed as a significant risk factor for PD by the family study method. Little has been documented on the presence of parkinsonism in these families. Our family study aims to explore what it means to claim a family history of PD and takes an inclusive approach to phenotyping parkinsonism.
Introduction: Parkinson’s disease (PD) is the second most common neurodegenerative disorder affecting older individuals. The population prevalence of PD is unknown in the Australian community. Mitochondrial DNA (mtDNA) haplogroups J and K have been associated with a lower risk of PD. Aim: To determine the prevalence of PD, and whether some mtDNA haplogroups are protective for PD, in an older population. Methods: We conducted a population-based cross-sectional survey of residents aged 49+ years living in the Blue Mountains, Sydney, Australia in 1997–2000 (n = 3508). We obtained detailed information including past medical history and medications used by participants. We screened for patients who were taking PD medications
Abstracts / Journal of Clinical Neuroscience 14 (2007) 1009–1040
640: Familial aggregation and age of onset in Parkinson’s disease Anna N. Sellbach, Peter A. Silburn, Richard S. Boyle, George D. Mellick; Princess Alexandra Hospital and University of Queensland Introduction: Family history is consistently identified as one of the strongest independent risk factors for Parkinson’s Disease (PD). Despite this, the role of genetic factors in the development of PD remains controversial. This study provides a comprehensive analysis of family history in PD. We propose that early onset PD is associated with higher rates of familial aggregation. Methods: A consecutive series of PD patients (probands) was recruited from two neurology clinics in Brisbane. All participants completed a detailed telephone questionnaire from which extensive family pedigrees were constructed. Reliability of the family history information was assessed using the family study method in which relatives were screened for PD directly or by proxy and examined where possible. This was applied to families in which there was at least one contactable relative in Brisbane. A matched control group (151 recruits from the Commonwealth electoral roll) was also assessed for family history. Results: 207 PD probands participated in the study. Family history information was collected on 1066 relatives and 164 were assessed via the family study method. 51 probands (24.6%) reported a positive family history and 25 probands (12.1%) reported an affected first degree relative. Positive and negative predictive values were 100% and 92.3% respectively. Clinical characteristics did not vary according to family history or age of onset. Family history of PD was more common in cases than controls. The odds ratios (ORs) for positive family history increased as age of onset decreased. The ORs for the third and first tertile groups were 2.23 (95% CI = 1.05–4.74) and 3.12 (95% CI = 1.52–6.44), respectively. Conclusion: Our study finds that genetic factors are important in PD regardless of age of onset, yet are strongest amongst those with early onset disease.
Methods: A consecutive PD case series was collected. All participants completed an extensive questionnaire detailing family history and contact details for relatives. Consenting relatives were screened for PD and underwent clinical examination when possible. Results: 32 probands and their 180 siblings and parents were selected. 164 relatives (91.1%) were screened directly or by proxy. 51 living relatives (46.3%) were examined. 6 probands (18.8%) reported a first degree relative with PD. 18 relatives (11.0%) screened positive for PD. The sensitivity of proband report for positive family history was 40% and specificity was 100%. Positive and negative predictive values were 100% and 92.3% respectively. Of the 51 relatives examined, 4 (7.8%) met a clinical diagnosis of PD and one had essential tremor. A further 21 relatives (41.2%) had at least one cardinal sign of PD. Bradykinesia, rigidity and postural instability were found with similar frequencies. Whilst not reaching statistical significance, bradykinesia and postural instability were more common with increasing age. Rigidity was distributed evenly across age groups. Isolated resting tremor was detected in only one relative. Age did not differ significantly between those with a normal examination, parkinsonism or PD. Conclusion: Our study confirms that family history is frequently and accurately reported by those with PD but that report alone has a tendency to underestimate the extent of family history. Furthermore, parkinsonism is common amongst family members, manifesting predominately as bradykinesia and rigidity. Clinical phenotyping in PD will play a vital role in understanding the extent and relevance of family history as a risk factor for PD. doi:10.1016/j.jocn.2007.02.072
642: Population prevalence of patients with Parkinson’s disease in the Australian community Prachi M. Mehta a, Annette Kifley b, Michael M. Jones a, Jie J. Wang b, Paul Mitchell b, Carolyn M. Sue a; a Royal North Shore Hospital and University of Sydney; b Centre for Vision Research
doi:10.1016/j.jocn.2007.02.071
641: Parkinson’s disease and the meaning of family history Anna N. Sellbach, Peter A. Silburn, Richard S. Boyle, George D. Mellick; Princess Alexandra Hospital and University of Queensland Introduction: People with Parkinson’s disease (PD) commonly report a positive family history. Family history has been confirmed as a significant risk factor for PD by the family study method. Little has been documented on the presence of parkinsonism in these families. Our family study aims to explore what it means to claim a family history of PD and takes an inclusive approach to phenotyping parkinsonism.
Introduction: Parkinson’s disease (PD) is the second most common neurodegenerative disorder affecting older individuals. The population prevalence of PD is unknown in the Australian community. Mitochondrial DNA (mtDNA) haplogroups J and K have been associated with a lower risk of PD. Aim: To determine the prevalence of PD, and whether some mtDNA haplogroups are protective for PD, in an older population. Methods: We conducted a population-based cross-sectional survey of residents aged 49+ years living in the Blue Mountains, Sydney, Australia in 1997–2000 (n = 3508). We obtained detailed information including past medical history and medications used by participants. We screened for patients who were taking PD medications