A case of restless leg syndrome in a family with LRRK2 gene mutation

• Published in: International journal of neuroscience 2013-04, Vol.123 (4), p.283-285
• Main Authors: De Rosa, Anna, Guacci, Anna, Peluso, Silvio, Del Gaudio, Luigi, Massarelli, Marco, Barbato, Stefano, Criscuolo, Chiara, De Michele, Giuseppe
• Format: Article
• Language: English
• Subjects: Aged; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Genetic Testing; Heterozygote; Humans; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; LRRK2 gene; Male; Mutation; Parkinson disease; Parkinson Disease - genetics; Protein-Serine-Threonine Kinases - genetics; restless leg syndrome; Restless Legs Syndrome - genetics
• ISSN: 0020-7454; 1563-5279; 1543-5245
• DOI: 10.3109/00207454.2012.756485

Abstract LRRK2 gene mutations (PARK8) are a common cause of genetic Parkinson disease (PD). G2019S, the most frequent mutation, is responsible for both familial and sporadic cases of PD. The clinical picture is usually indistinguishable from that observed in idiopathic PD; however, a wide range of clinical presentations and pathological findings has been described. Restless leg syndrome (RLS) is a disabling sleep-related sensorimotor disorder whose pathogenesis is likely related to dopaminergic dysfunction. We report a 77-year-old woman with RLS and familial history of parkinsonism. The father, one sister, two cousins and one uncle were affected by PD. The proband and her sister were analyzed for mutations in LRRK2 gene and resulted to carry one heterozygous G2019S mutation in LRRK2 gene. The association between RLS and LRRK2 gene mutation may be casual, but it can hypothesized that RLS is a possible phenotypic presentation in PARK8.