𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Co-occurrence of restless legs syndrome and Parkin mutations in two families

✍ Scribed by Susanna Adel; Ana Djarmati; Kemal Kabakci; Irene Pichler; Cordula Eskelson; Thora Lohnau; Norman Kock; Johann Hagenah; Katja Hedrich; Eberhard Schwinger; Patricia L. Kramer; Peter P. Pramstaller; Christine Klein


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
158 KB
Volume
21
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis


Abstract

Recent studies have suggested an association between restless legs syndrome (RLS) and Parkinson's disease (PD). We present a large multigenerational family and a smaller family with RLS. A Parkin mutation was found in 10 of 20 patients from both families with idiopathic RLS but was not considered causative. The clinical phenotype did not differ between RLS patients with and without a Parkin mutation. Inheritance of RLS was consistent with autosomal dominant transmission, and linkage analysis excluded all three known loci for RLS. Β© 2005 Movement Disorder Society


πŸ“œ SIMILAR VOLUMES


Mutational analysis of neurotensin in fa
✍ Alex Desautels; Gustavo Turecki; Lan Xiong; Daniel Rochefort; Jacques Montplaisi πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 81 KB

## Abstract A susceptibility locus for restless legs syndrome (RLS) has been identified recently on chromosome 12q. This region contains several transcribed genes including neurotensin (NTS), which, as an important modulator of the dopaminergic transmission, represents a strong functional and posit

Restless legs syndrome, rapid eye moveme
✍ NadΓ¨ge Limousin; Eric Konofal; Elias Karroum; Ebba Lohmann; Ioannis Theodorou; A πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 96 KB

## Abstract __Parkin__ gene mutations cause a juvenile parkinsonism. Patients with these mutations may commonly exhibit REM sleep behaviour disorders, but other sleep problems (insomnia, sleepiness, restless legs syndrome) have not been studied. The aim of this study was to evaluate the sleep‐wake

Clinical symptoms and possible anticipat
✍ Dr. Claudia Trenkwalder; Victor Collado Seidel; Thomas Gasser; Wolfgang H. Oerte πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 455 KB

## Abstract Idiopathic restless legs syndrome (RLS) frequently follows an autosomal dominant inheritance with a variable clinical expressivity of symptoms. We describe the largest German kindred of familial RLS with 20 affected and investigated members in four generations with a variety of clinical

Family-based association study of the re
✍ David Kemlink; Olli Polo; Pasquale Montagna; Federica Provini; Karin Stiasny-Kol πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 90 KB πŸ‘ 1 views

## Abstract Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different populations. We conducted a family‐based association study of 159 Eur