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  Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families

Winkelmann, J., Müller-Myhsok, B., Wittchen, H., Hock, B., Prager, M., Pfister, H., et al. (2002). Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families. Annals of Neurology, 52(3), 297-302.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-000E-A169-5 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-000E-A16A-3
Genre: Journal Article
Alternative Title : Ann. Neurol.

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 Creators:
Winkelmann, J1, Author
Müller-Myhsok, B1, Author
Wittchen, HU1, Author
Hock, B1, Author
Prager, M1, Author
Pfister, H1, Author
Ströhle, A1, Author
Eisensehr, I1, Author
Dichgans, M1, Author
Gasser, T1, Author
Trenkwalder, C1, Author
Affiliations:
1Max Planck Institute of Psychiatry, Max Planck Society, ou_1607137              

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 Abstract: A strong familial component of restless legs syndrome (RLS) is known. The objective of this study therefore was to investigate the likely mode of inheritance of RI-S. RLS patients and their first-degree relatives were investigated and classified in RLS affected and RI-S nonaffected subjects. Assessments were based on direct, personal standardized diagnostic interviews. Complex segregation analysis was performed with the families stratified according to the mean age at onset of the disease within the families. Two hundred thirty-eight RILS patients, 537 first- degree relatives, and 133 spouses were interviewed. Two groups of families were stratified: mean age at onset up to 30 years of age (Group A) and older than 30 years (Group B; p < 0.005). In Group A, segregation analysis strongly favored a single major gene acting autosomal dominant with a multifactorial component. Parameter estimates were 0.003 for the allele frequency, 1.0 for the penetrance, and 0.005 for the phenocopy rate. In Group B, no evidence for a major gene could be elucidated. The segregation pattern found in our families argues for an autosomal allele acting dominantly in RLS families with an early age at onset of symptoms and suggests that RLS is a causative heterogeneous dise

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Language(s): eng - English
 Dates: 2002-09
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: eDoc: 4095
ISI: 000177820100006
 Degree: -

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Title: Annals of Neurology
  Alternative Title : Ann. Neurol.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 52 (3) Sequence Number: - Start / End Page: 297 - 302 Identifier: ISSN: 0364-5134