Familial aggregation of early‐ and late‐onset Parkinson's disease

Marder, Karen; Levy, Gilberto; Louis, Elan D.; Mejia‐Santana, Helen; Côté, Lucien J.; Andrews, Howard; Harris, Juliette; Waters, Cheryl; Ford, Blair; Frucht, Steven J.; Fahn, Stanley; Ottman, Ruth

doi:10.1002/ana.10711

Cited by 91 publications

(102 citation statements)

References 48 publications

(34 reference statements)

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“…The PD patients were subdivided into early-onset PD (onset at or before 50 years) and late-onset PD (onset after 50 years) according to a commonly used stratifi cation [38,39] . This stratifi cation did not contribute to changes of genotype or allele distributions (data not shown).…”

Section: Resultsmentioning

confidence: 99%

TAU Haplotype and the Saitohin Q7R Gene Polymorphism Do Not Influence CSF Tau in Alzheimer’s Disease and Are Not Associated with Frontotemporal Dementia or Parkinson’s Disease

Johansson

Zetterberg²,

Håkansson³

et al. 2005

Neurodegener Dis

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Background: Recent studies have described Saitohin(STH), a gene located in the human TAU gene. The corresponding protein shows a similar tissue expression to tau, which is involved in many neurodegenerative disorders including Alzheimer’s disease (AD), frontotemporal dementia (FTD) and Parkinson’s disease (PD). A single nucleotide polymorphism in the STH gene has been suggested to be involved in sporadic AD and is in complete linkage disequilibrium with the TAU haplotype H1. Objective: A case-control study was performed to further explore the possible involvement of the STH Q7R polymorphism and the extended TAU haplotype in AD, FTD or PD. Methods: Patients with AD (n = 398), FTD (n = 96) and PD (n = 105), and controls (n = 186) were genotyped for the STH polymorphism and/or the TAU haplotype. Genotype data were related to levels of total-tau, phospho-tau and Aβ_1–42 in cerebral spinal fluid (CSF) in more than 300 AD patients and to an amount of senile plaques and neurofibrillary tangles in the frontal cortex and hippocampus in patients with autopsy-confirmed AD. Results: The STH Q7R polymorphism and the TAU haplotype were in complete linkage disequilibrium in all patients (AD and FTD) and controls investigated for both genes. There were no significant differences in genotype or allele distributions in AD, FTD or PD cases compared to controls. Neither TAU haplotype nor STH influenced CSF levels of total-tau, phospho-tau and Aβ_1–42 significantly. In AD patients with neuropathological scores of plaque and tangles, no associations with TAU haplotype and STH were found. Conclusion: We found no evidence that could support a major pathogenic role of STH and TAU haplotype in AD, FTD or PD.

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Section: Resultsmentioning

confidence: 99%

TAU Haplotype and the Saitohin Q7R Gene Polymorphism Do Not Influence CSF Tau in Alzheimer’s Disease and Are Not Associated with Frontotemporal Dementia or Parkinson’s Disease

Johansson

Zetterberg²,

Håkansson³

et al. 2005

Neurodegener Dis

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“…This study represents a major departure from most previous attempts to study the familial aggregation of PD [29][30][31][32][33][34][35][36][37][38][39][40][41][42] , because we used the family study method rather than the family history method [1,27,43] . Included in the study were a total of 4,565 fi rst-degree relatives age 40 years or above (3,714 relatives of cases and 851 relatives of controls) and 303,750 person-years of follow-up (244,177 for relatives of cases and 59,573 for relatives of controls).…”

Section: Strengths Of the Present Studymentioning

confidence: 96%

The Mayo Clinic Family Study of Parkinson’s Disease: Study Design, Instruments, and Sample Characteristics

Rocca

Peterson²,

McDonnell³

et al. 2005

Neuroepidemiology

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We describe here the Mayo Clinic Family Study of Parkinson’s disease (PD), including the overall study design (historical cohort study of relatives from birth to onset of PD or censoring), the data collection instruments, the strategies implemented to prevent or measure biases, and the sample obtained. These methodological details may provide assistance to other investigators designing studies of the familial aggregation of PD or other aging-related chronic diseases. We investigated the incidence of PD and other neurodegenerative diseases among 1,001 first-degree relatives of 162 patients with PD and 851 relatives of 147 controls representative of the population of Olmsted County, Minn., USA. In addition, we studied 2,713 first-degree relatives of 411 patients with PD referred to the Mayo Clinic. Finally, we studied a group of 625 spouses of either cases or controls. Relatives with PD or other neurodegenerative diseases were ascertained using the family study method.

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“…The familial aggregation was stronger for early-onset compared to late-onset PD, although definitions of early and late varied across studies [134,138,148,149,157,158,[161][162][163]. Most studies that examined different types of relationships (siblings or parent-child) reported that PD in a sibling was associated with a higher risk compared to PD in a parent or child [131,[161][162][163][164], indicating recessive genetic or shared environmental effects.…”

Section: Family Studiesmentioning

confidence: 99%