Mutations in the parkin gene occur among individuals with PD with an older age at onset (> or =60 years) who have a positive family history of the disease. In addition, the clinical findings of parkin-positive individuals are remarkably similar to those without mutations.
Parkinson disease (PD) is the second most common neurodegenerative disorder, surpassed in frequency only by Alzheimer disease. Elsewhere we have reported linkage to chromosome 2q in a sample of sibling pairs with PD. We have now expanded our sample to include 150 families meeting our strictest diagnostic definition of verified PD. To further delineate the chromosome 2q linkage, we have performed analyses using only those pedigrees with the strongest family history of PD. Linkage analyses in this subset of 65 pedigrees generated a LOD score of 5.1, which was obtained using an autosomal dominant model of disease transmission. This result strongly suggests that variation in a gene on chromosome 2q36-37 contributes to PD susceptibility.
Excessive daytime sleepiness (EDS) may limit the symptomatic treatment of Parkinson's disease and can alter the patient's lifestyle significantly. Ten consecutive patients with Parkinson's disease on various dopaminergic drugs and EDS were recruited to a 4-week open-label trial of modafinil. Patients were evaluated using the Epworth Sleepiness Scale and Unified Parkinson's Disease Rating Scale part III. All but three patients, with previous history of intolerability of a dopamine agonist caused by EDS, remained on their baseline medications. Modafinil was titrated as needed to a maximum of 400 mg/day. The mean Epworth Sleepiness Scale score at baseline of patients completing the study (n = 9) was 14.22 (+/- 3.03). After completing the study on an average dose of 172 mg/day, the Epworth Sleepiness Scale score was 6.0 (+/- 4.87). Unified Parkinson's Disease Rating Scale scores were not affected by this medication. Side effects encountered were headache, generalized paresthesias, and hallucinations (n = 1 each, the patient developing hallucinations dropped out of the trial before completing 4 weeks of the study drug). The three patients who did not tolerate any increments of dopamine agonist before modafinil were able to tolerate further upward titration of the dopamine agonist. Modafinil may be effective in reducing EDS in patients with Parkinson's disease treated with dopaminergic drugs. It does not seem to worsen parkinsonian symptoms and may allow further increase in dopaminergic therapy in patients previously unable to tolerate this because of EDS.
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