Co‐occurrence of restless legs syndrome and <i>Parkin</i> mutations in two families

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

doi:10.1002/mds.20690

Cited by 38 publications

(25 citation statements)

References 19 publications

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“…Inheritance of RLS was consistent with autosomal-dominant transmission, and linkage analysis excluded the RLS loci RLS1-3 that were known at the time of the study. 64 …”

Section: Genetics Of Restless Legs Syndrome S453mentioning

confidence: 97%

Genetics of restless legs syndrome (RLS): State-of-the-art and future directions

et al. 2007

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Several studies demonstrated that 60% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. To date, several loci have been mapped but no gene has been identified yet. Phenocopies and possible nonpenetrants made it difficult to detect a common segregating haplotype within the families. Defining the exact candidate region is hampered by possible intrafamilial, allelic, and nonallelic heterogeneity. One important prerequisite for future successful genetic studies in RLS is the availability of large and thoroughly phenotyped patients and family samples for linkage as well as association studies.

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“…Inheritance of RLS was consistent with autosomal-dominant transmission, and linkage analysis excluded the RLS loci RLS1-3 that were known at the time of the study. 64 …”

Section: Genetics Of Restless Legs Syndrome S453mentioning

confidence: 97%

Genetics of restless legs syndrome (RLS): State-of-the-art and future directions

et al. 2007

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“…The three families are depicted in Figure 1. In addition, we included another South D2S2392 199.536 196.9 9 11 9 11 9 11 9 11 11 11 13 11 13 11 1 11 2 11 1 11 9 11 13 11 6 11 1 11 6 11 11 11 D2S116 201.493 198.7 6 6 6 6 6 6 6 6 0 0 0 0 0 0 0 0 6 6 5 6 6 6 9 6 9 6 2 6 9 6 5 6 D2S2289 Tyrolean family with known co-occurrence of heterozygous Parkin mutations and RLS in 8 of 17 patients in the analysis (family LA, RLS branch) [Adel et al, 2006]. Family LA and family S04 are not linked to RLS4.…”

Section: Resultsmentioning

confidence: 96%

“…The pedigree of family LA is shown elsewhere (Adel et al, 2006). RLS individuals are in black and mutation carriers (Ex7del) are labeled with a ''þ.''…”

Section: Resultsmentioning

confidence: 99%

“…Among these patients, three belong to a previously described small family [Adel et al, 2006] that could be linked to the extended family S01 (Fig. 1).…”

Section: Methodsmentioning

confidence: 97%

“…1). We also included a previously described RLS family from the same geographic region (family LA, RLS branch), for whom co-occurrence of RLS and heterozygous Parkin mutations has already been reported in 8 out of 17 patients [Adel et al, 2006]. The median family size was 5 individuals (range: 3-56 individuals).…”

Section: Methodsmentioning

confidence: 99%

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Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS)

Pichler

Marroni

Pattaro

et al. 2009

American J of Med Genetics Pt B

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A co-occurrence of restless legs syndrome (RLS) and Parkin mutations has been described. In South Tyrolean RLS patients, a novel RLS locus has been found (RLS4) and recurrent Parkin mutations have been reported. By a systematic screen we investigated the presence of founder Parkin mutations in South Tyrolean RLS patients with known carrier status at the RLS4 locus and assessed whether these mutations alone or in combination influence the RLS phenotype measured by three quantitative RLS traits (age at onset (AAO) and two severity measurements). The Parkin mutation alone showed no effect, whereas RLS4 had a significant effect on the AAO (P = 0.0096, decrease of AAO of 9.1 years), but did not influence severity. Carriers of both, a Parkin mutation and the RLS4 haplotype, showed an association with AAO (P = 0.0016), corresponding to an anticipation of RLS onset age of 16.9 years. However, there was no effect on the disease severity. Our results suggest that the occurrence of a heterozygous Parkin mutation works in tandem with the gene at the RLS4 locus to lower the AAO in RLS.

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Restless Legs Syndrome and Akathisia in Parkinson's Disease

Iranzo

Comella

2011

Parkinson's Disease

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

Cited by 38 publications

References 19 publications

Genetics of restless legs syndrome (RLS): State-of-the-art and future directions

Genetics of restless legs syndrome (RLS): State-of-the-art and future directions

Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS)

Restless Legs Syndrome and Akathisia in Parkinson's Disease

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