PubMed:28465860 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/28465860","sourcedb":"PubMed","sourceid":"28465860","text":"LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease.\nBackground. The LRRK2 G2019S mutation is the most common genetic determinant of Parkinson's disease (PD) identified to date. This mutation, reported in both familial and sporadic PD, occurs at elevated frequencies in Maghreb population. In the present study, we examined the prevalence of the G2019S mutation in the Moroccan population and we compared the motor and nonmotor phenotype of G2019S carriers to patients with idiopathic Parkinson's disease. Methods. 100 PD patients were assessed for motor and nonmotor symptoms, current medication, and motor complication including motor fluctuations and dyskinesia. The LRRK2 G2019S mutation was investigated by direct sequencing in patients and ethnically matched controls, all of Moroccan origin. Results. Among the 100 PD Moroccan patients, 41 (41%) were carriers of the G2019S mutation. The mutation frequency was higher among probands with autosomal dominant inheritance (76%) than among sporadic ones (28%). Interestingly, G2019S mutation was also found in 5% of control individuals. Clinically, patients carrying the G2019S mutation have more dystonia (OR = 4.6, p = 0.042) and more sleep disorders (OR = 2.4, p = 0.045) than noncarriers. Conclusions. The LRRK2 G2019S prevalence in Morocco is the highest in the world reported to date. Some clinical features in G2019S carriers such as dystonia and sleep disturbances are worth noting.","tracks":[{"project":"PubTator4TogoVar","denotations":[{"id":"28465860_0","span":{"begin":6,"end":12},"obj":"ProteinMutation"},{"id":"28465860_1","span":{"begin":1412,"end":1418},"obj":"ProteinMutation"},{"id":"28465860_2","span":{"begin":1311,"end":1317},"obj":"ProteinMutation"},{"id":"28465860_3","span":{"begin":1166,"end":1172},"obj":"ProteinMutation"},{"id":"28465860_4","span":{"begin":1071,"end":1077},"obj":"ProteinMutation"},{"id":"28465860_5","span":{"begin":916,"end":922},"obj":"ProteinMutation"},{"id":"28465860_6","span":{"begin":718,"end":724},"obj":"ProteinMutation"},{"id":"28465860_7","span":{"begin":483,"end":489},"obj":"ProteinMutation"},{"id":"28465860_8","span":{"begin":388,"end":394},"obj":"ProteinMutation"},{"id":"28465860_9","span":{"begin":117,"end":123},"obj":"ProteinMutation"}],"attributes":[{"id":"28465860_0_ProteinMutation","pred":"proteinmutation","subj":"28465860_0","obj":"rs34637584"},{"id":"28465860_1_ProteinMutation","pred":"proteinmutation","subj":"28465860_1","obj":"rs34637584"},{"id":"28465860_2_ProteinMutation","pred":"proteinmutation","subj":"28465860_2","obj":"rs34637584"},{"id":"28465860_3_ProteinMutation","pred":"proteinmutation","subj":"28465860_3","obj":"rs34637584"},{"id":"28465860_4_ProteinMutation","pred":"proteinmutation","subj":"28465860_4","obj":"rs34637584"},{"id":"28465860_5_ProteinMutation","pred":"proteinmutation","subj":"28465860_5","obj":"rs34637584"},{"id":"28465860_6_ProteinMutation","pred":"proteinmutation","subj":"28465860_6","obj":"rs34637584"},{"id":"28465860_7_ProteinMutation","pred":"proteinmutation","subj":"28465860_7","obj":"rs34637584"},{"id":"28465860_8_ProteinMutation","pred":"proteinmutation","subj":"28465860_8","obj":"rs34637584"},{"id":"28465860_9_ProteinMutation","pred":"proteinmutation","subj":"28465860_9","obj":"rs34637584"},{"subj":"28465860_0","pred":"source","obj":"PubTator4TogoVar"},{"subj":"28465860_1","pred":"source","obj":"PubTator4TogoVar"},{"subj":"28465860_2","pred":"source","obj":"PubTator4TogoVar"},{"subj":"28465860_3","pred":"source","obj":"PubTator4TogoVar"},{"subj":"28465860_4","pred":"source","obj":"PubTator4TogoVar"},{"subj":"28465860_5","pred":"source","obj":"PubTator4TogoVar"},{"subj":"28465860_6","pred":"source","obj":"PubTator4TogoVar"},{"subj":"28465860_7","pred":"source","obj":"PubTator4TogoVar"},{"subj":"28465860_8","pred":"source","obj":"PubTator4TogoVar"},{"subj":"28465860_9","pred":"source","obj":"PubTator4TogoVar"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubTator4TogoVar","color":"#93ecea","default":true}]}]}}