S72
Monday, 10 December 2007
Conclusion: Unlike PD, functional and motor decline was not associated with cognitive decline in ET. Future research should be directed at examining neuropathological differences in cognitive and motor dysfunction between ET and PD subjects along with examining psychosocial factors (e.g., depression and social support) that predict functional disability in ET.
1.283 Clinical and genetic study of a large Dutch family with autosomal dominant restless legs syndrome S. Bakker1° , G. Sas, A. Maat-Kievit, V. Bonifati, A. Boon Netherlands
1 Rotterdam,
Objective: Genetic factors play an important role in the aetiology of restless legs syndrome (RLS). During the last decade several loci, but no genes have been identified for Mendelian forms of RLS. Here we describe the clinical features and initial genetic analysis of a large Dutch family segregating autosomal dominant RLS. Method: All living family members were personally examined and an extended pedigree was reconstructed. Each subject underwent general medical and neurological examination. An extensive questionnaire was completed, and RLS symptoms were quantified using the RLS Rating Scale as mild (1−10), moderate (11−20) and severe (21−30). DNA was isolated from peripheral blood. Serum creatinine, hemoglobin and iron levels were also determined. Results: Thirty-one family members, out of 3 generations (10 men and 21 women) consented to participate. Mean age at examination was 50 years (20−93). RLS was ascertained in 27 subjects (87%). RLS symptoms were quantified as mild in 50%, moderate in 19% and severe in 31%, with a mean score of 12 (0−29). The average age at symptoms onset was 17.8 years (6−35). Interestingly, in 11% of the subjects, RLS symptoms improved during life. Serum levels of creatinine, hemoglobin and iron were in the normal ranges. Conclusion: Due to large pedigree size and early-onset phenotype, this kindred has great potential for linkage mapping and positional cloning of the underlying genetic defect. A genome-wide scan for linkage was recently undertaken using the Affimetrix GeneChip® Human Mapping 250K Array set. These results will be presented at the meeting.
1.284 Daytime fatigue in idiopathic restless legs syndrome: Evaluation with Parkinson’s fatigue scale Y. Naidu1° , V. Metta, S. Tluk, J. Roomi, O. Bernadette, K.R. Chaudhuri United Kingdom
1 London,
Objective: Restless legs syndrome (RLS) is known to cause sleep disruption at moderate to severe stages. Many such patients complain of daytime fatigue and tiredness, and the Parkinson Fatigue Scale (PFS-16) provides a convenient way to screen for fatigue in the outpatient clinic in the absence of a RLS specific fatigue scale. Method: As part of good clinical practice all RLS patients referred to the national RLS clinic at King’s College Hospital complete a clinical questionnaire, RLS severity scale and PFS-16. PFS-16 data was specifically analysed for this study. Results: In this ongoing study, 54% of 24 cases of RLS screened so far have significant fatigue (PFS-16 score >8, mean PFS-16 = 9.2 ±5.3). 90% are female compared to 80% in the group without significant fatigue scores. The mean age is 63.5±13, mean duration of RLS 14.8±13 yrs and mean Epworth sleepiness scale score (ESS) is 9.8±5 (ESS abnormal >10). 60% have been taking levodopa and 30% dopamine agonists. Conclusion: This preliminary study suggests that fatigue, as reported in the PFS-16 is common in RLS and over-represented in female patients. Fatigue appears to be reported independent of daytime sleepiness as judged by ESS.
1.285 Depression or restless leg syndrome: Diagnostic difficulties (case report) M. Flirski1° , M. Wojtera, T. Sobow, I. Kloszewska Poland
1 Lodz,
Objective: The prevalence of restless leg syndrome (RLS) is estimated at 3.5−10% of the population. In spite of the frequency of this condition it is extremely rarely diagnosed and subsequently treated. RLS is associated with discomfort while resting and secondary insomnia which altogether result in chronic fatigue. The symptoms of RLS can be misattributed to a depressive disorder or dysthymia, or in consequence can lead to the development of a depressive episode. In this work we want to present a case report emphasizing diagnostic difficulties on the boundaries of movement disorders and psychiatry. Results: In this work we want to present a case report of an 87-yearold patient treated in our clinic. Three years before hospitalization the patient had started complaining about insomnia, anxiety, pain in the lower limbs and the urge to walk during the night. The patient had subsequently withdrawn from various everyday activities, started visiting his GP on a regular basis; he had been forced to use various analgesics, mainly tramadole. As a consequence of disturbing symptoms and lack of effective treatment the patient had developed a moderately severe depressive episode. The treatment with antidepressant medications in the outpatient setting was not successful, which in turn resulted in the patient being admitted to the Old Age Psychiatry clinic. An improvement in the depressive symptoms was achieved, however, insomnia and leg pains, initially considered as residual depressive symptomatology, did not subside. Only after a second diagnosis of RLS has been stated and a symptomatic treatment with levodopa introduced did the symptoms resolve. Conclusion: The lack of the diagnosis of RLS in psychiatrically treated patients can result in therapeutic failures, ongoing changes in treatment schedule and unnecessary hospitalizations. Stating the diagnosis of RLS enables the implementation of safe and effective treatment methods, subsequently leading to an evident improvement in the quality of life. 1.286 Restless legs syndrome in Korean patients with Parkinson disease J.E. Lee1° , K. Kim, H.-W. Shin, Y.H. Sohn Korea, Republic of
1 Seoul,
Objective: In order to investigate the prevalence and clinical characteristics of restless leg syndrome (RLS) in Korean patients with Parkinson disease (PD). Method: Subjects were patients with PD who visited Yonsei University Medical Center from March 2007 to June 2007. All patients were diagnosed as PD without any signs suggesting atypical parkinsonism. RLS was diagnosed by face-to-face interviews with patients or their caregivers, using International Restless Legs Syndrome Study Group (IRLSSG) criteria. All subjects performed assessment for Unified Parkinson Disease Rating Scale (UPDRS) motor score (part III) and Korean form of Mini-Mental State Examination (K-MMSE). Medical records were reviewed to collect information about clinical characteristics of PD such as duration of PD morbidity, severity of PD (Hoehn and Yahr stage), current medication and treatment history. Results: Four hundred thirty-eight patients with PD were included in this study. Seventy-three (16.7%) were diagnosed to have RLS. PD patients with RLS showed longer duration of PD morbidity and treatment, higher mean UPDRS motor score and Hoehn and Yahr stage, and lower K-MMSE score than those without RLS. Levodopa equivalent dose was comparable between the two groups. Conclusion: This study demonstrates that the prevalence of RLS is significantly higher in Korean PD patients than normal Korean adult population. The prevalence of RLS in PD seems to be related with duration and severity of parkinsonism, but not with the dose of dopaminergic medication.