title: A case of restless leg syndrome in a family with LRRK2 gene mutation.
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.
authors.affiliation: Department of Neurological Sciences, Federico II University, Naples, Italy. anna derosa@libero.it
authors.forename: Anna
authors.initials: A
authors.lastname: De Rosa
authors.forename: Anna
authors.initials: A
authors.lastname: Guacci
authors.forename: Silvio
authors.initials: S
authors.lastname: Peluso
authors.forename: Luigi
authors.initials: L
authors.lastname: Del Gaudio
authors.forename: Marco
authors.initials: M
authors.lastname: Massarelli
authors.forename: Stefano
authors.initials: S
authors.lastname: Barbato
authors.forename: Chiara
authors.initials: C
authors.lastname: Criscuolo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012148:Restless Legs Syndrome / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases