Biomedical subjects

Birgit Frauscher

Publications and source records attributed to Birgit Frauscher.

8 recordsLinked to original sources

PubMed2007

Family-based association study of the restless legs syndrome loci 2 and 3 in a European population.

Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different populations. We conducted a family-based association study of 159 European RLS trios. The subjects were genotyped using microsatellite markers evenly covering the candidate regions on chromosomes 14q and 9p with an average intermarker distance of 1.1 cM. Transmission disequilibrium tests were used to analyze the data, and empirical P values were estimated by permutation testing. On chromosome 14q, a significant association (empirical P = 0.0033) was found with a haplotype formed by markers D14S1014 and D14S1017 when analyzing all families. On chromosome 9p, no significant association in the sample of all families and only marginally significant associations were detected, with a haplotype involving markers D9S1846-D9S171 in a subset of South European trios and with a haplotype at D9S156-D9S157 in a subset of Central European trios (P = 0.0086 and 0.0077, respectively). These results represent the first confirmation of these loci in a mixed European population. Variable results observed in families of different ethnic groups further corroborate the genetic complexity of RLS.

Chromosomes, Human, Pair 12↗

PubMed2006

Restless legs syndrome and motor activity during sleep in spinocerebellar ataxia type 6.

BACKGROUND AND PURPOSE: We investigated the frequency of restless legs syndrome (RLS) and sleep disturbance in spinocerebellar ataxia type 6 (SCA6). PATIENTS AND METHODS: Five patients out of three multigenerational SCA6 families underwent a standardized investigation protocol including clinical interview for RLS, neurophysiological evaluation as well as the clinical assessment of ataxia. Polysomnography (PSG) was performed during two consecutive nights. RESULTS: Two out of five patients fulfilled the clinical criteria for RLS. A periodic leg movements in sleep (PLMS) index>15/h was present in four of the five patients; a PLMS index>5/h was present in all patients. Significant disturbance of rapid eye movement (REM) sleep was not found. None of the patients had REM sleep behaviour disorder. Only one patient had mild REM sleep without atonia. CONCLUSIONS: Our pilot study suggests only minor sleep abnormalities in SCA6.

Adult↗

PubMed2006

Disturbance of rapid eye movement sleep in spinocerebellar ataxia type 2.

Five genetically confirmed spinocerebellar ataxia type 2 (SCA2) patients were admitted to our sleep laboratory for two all-night video-polysomnographies. A standard montage was used, including electroencephalography, vertical and horizontal electrooculography, electromyography of mental, submental, and tibialis anterior muscles, and respiratory monitoring. Four of five SCA2 patients had insufficient muscle atonia during rapid eye movement (REM) sleep. All patients exhibited myoclonic jerks during REM sleep, while elaborated behavior was not observed in the video. Abnormal motor control during sleep with periodic leg movements and REM sleep without atonia occurs frequently in SCA2. This finding may reflect a dysfunction of dopaminergic and/or brainstem and cerebellar outflow pathways.

Adult↗

PubMed2006

Daytime sleepiness and the COMT val158met polymorphism in patients with Parkinson disease.

STUDY OBJECTIVE: A preliminary study by our group suggested an association between daytime sleepiness and the catechol-O-methyltransferase (COMT) val158met polymorphism (rs4680) in patients with Parkinson disease (PD). We sought to confirm this association in a large group of patients with PD. DESIGN: Genetic association study in patients with PD. SETTING: Movement disorder sections at 2 university hospitals. PARTICIPANTS: PD patients with and without episodes of suddenly falling asleep matched for antiparkinsonian medication, disease duration, sex, and age, who participated in a previous genetic study on dopamine-receptor polymorphisms. INTERVENTIONS: Not applicable. MEASUREMENTS AND RESULTS: In this study, 240 patients with PD (154 men; age 65.1 +/- 6.1 years; disease duration 9.4 +/- 6.0 years) were included. Seventy had the met-met (LL), 116 the met-val (LH), and 54 the val-val (HH) genotype. In the combined LL+LH group (featuring reduced COMT activity), the mean Epworth Sleepiness Scale (ESS) score was 9.0 +/- 5.9 versus 11.0 +/- 6.1 in the HH (high COMT activity) group (P = .047). Forty-seven percent of the LL and LH patients had sudden sleep onset compared with 61% of the HH patients (P = .07). Logistic regression, however, showed that both pathologic ESS scores (i.e., > 10) and sudden sleep onset were predicted by subjective disease severity (P < .001 each) but not by the COMT genotype. CONCLUSIONS: Our previous finding that the L-allele may be associated with daytime sleepiness could not be confirmed in the present study. Altogether, our data do not support a clinically relevant effect of the COMT genotype on daytime sleepiness in PD.

Aged↗

PubMed2005

Daytime sleepiness is not increased in mild to moderate multiple sclerosis: a pupillographic study.

BACKGROUND: Daytime sleepiness has been described in multiple sclerosis (MS); a combination of MS and narcolepsy has also been observed in a few case reports. In this study, we investigated daytime sleepiness in a general sample of MS patients compared to healthy controls with the pupillographic sleepiness test (PST) and the Epworth and Stanford sleepiness scales (ESS, SSS). METHODS: A PST was performed in consecutive MS patients and controls. Additionally, a questionnaire including the ESS and the SSS was applied. RESULTS: Sixty-one MS patients (29 men and 32 women, age 34.5+/-8.3 years, mean disease duration 7.4+/-6.6 years, expanded disability status scale (EDSS) 1.7+/-1.2 (mean +/- sd)) and 42 age-matched controls (13 men and 29 women, age 36.9+/-12.9 years) participated in this study. In the MS group, the pupillary unrest index (PUI) was 5.0+/-2.0, the ESS 7.4+/-3.5 and the SSS 2.4+/-1.2, whereas in the control group, the PUI was 4.7+/-1.8, the ESS 8.4+/-4.0 and the SSS 2.4+/-1.2 (mean +/- sd). These differences were not significant. No correlation was found between PUI and the ESS or the SSS. Furthermore, no correlation was found between EDSS and sleepiness measured by PUI, ESS and SSS. CONCLUSION: In a general sample of MS patients with mild to moderate disease, there was no evidence for overall increased daytime sleepiness compared to healthy controls.

Adult↗

PubMed2005

Voxel-based morphometry in narcolepsy.

BACKGROUND AND PURPOSE: Voxel-based morphometry (VBM) is a magnetic resonance imaging (MRI)-based indirect volumetry, which allows the investigation of the entire brain without restriction of predefined regions-of-interest. Recent studies using this technique reported controversial results in patients with narcolepsy. PATIENTS AND METHODS: In this study, 12 patients with narcolepsy according to the criteria of the International Classification of Sleep Disorders were compared to 12 age-matched controls with normal MR images using VBM. Sex and global differences in voxel intensities were used as confounding covariates. RESULTS: Significant gray matter loss was found in the right prefrontal and frontomesial cortex of patients with narcolepsy. White matter comparison revealed no significant changes in patients or controls. The comparison of cerebrospinal fluid partition detected an enlargement of subarachnoidal space of controls close to the prefrontal cortex. CONCLUSIONS: The volume reduction of gray matter in narcoleptic patients could indicate a disease-related atrophy pattern. However, the results of VBM studies in narcolepsy are contradictory. A possible systematic bias due to inhomogeneous patient groups, stimulant medication history or pre-statistical image processing must be considered. We suggest that studies with drug-naive patients and/or region-of-interest-based volumetric studies should be performed in areas defined by VBM.

Adult↗

PubMed2004

Association of daytime sleepiness with COMT polymorphism in patients with parkinson disease: a pilot study.

STUDY OBJECTIVES: To evaluate an association between catechol-O-methyltransferase (COMT) genotype and subjective daytime sleepiness in patients with Parkinson disease. DESIGN: Structured questionnaire study. SETTING: Tertiary Parkinson disease care center and sleep outpatients' department at the university hospital neurology department. PARTICIPANTS: All nondemented patients with idiopathic Parkinson disease who had been part of a previous study of D4-receptor polymorphisms in 1997 were eligible to participate. From the original sample of 113 patients, 46 participated in the study, 22 met exclusion criteria, and 43 were not available. INTERVENTIONS: Not applicable. MEASUREMENTS AND RESULTS: In this study, 46 patients were included (27 men, 19 women; 68.4 +/- 9.9 years of age; symptomatic disease duration, 12.2 +/- 5.2 years; Hoehn and Yahr stage in "on" of 2.6 +/- 0.8). Out of the 46 patients, 13 had LL genotype, 22 LH, and 11 HH. The Epworth Sleepiness Scale scores were 9.5 +/- 4.8 in LL, 8.5 +/- 4.7 in LH, and 6.8 +/- 3.1 in HH (mean +/- SD) (NS). LL and LH were grouped together. The Epworth Sleepiness Scale score was 11 or more in 40% of the LL+LH group, compared to 9.1% of the HH group (P = .039). The levodopa or dopamine-agonist doses and types did not differ between the LL+LH group versus the HH group. CONCLUSIONS: These preliminary data suggest an association of the Lallele and daytime sleepiness in patients with Parkinson disease.

Aged↗

PubMed2003

Increased daytime sleepiness in Parkinson's disease: a questionnaire survey.

We evaluated the frequency and severity of excessive daytime sleepiness in an outpatient population with Parkinson's disease in comparison to age-matched controls and examined its relationship with antiparkinsonian drug therapy and sleep history. Increased daytime sleepiness and involuntary sleep episodes have been described in Parkinson's disease, but the etiology is not completely understood. The Epworth Sleepiness Scale (ESS), a validated questionnaire for daytime sleepiness, was prospectively administered to 99 consecutive outpatients with Parkinson's disease and 44 age-matched controls. In addition, a short sleep-screening questionnaire was used. The ESS revealed significantly increased daytime sleepiness in PD patients compared to controls (7.5 +/- 4.6 vs. 5.8 +/- 3.0, P = 0.013). The ESS score was abnormally high (10 or more) in 33 % of PD patients and 11.4% of controls (P = 0.001). ESS was not different between PD patients on levodopa monotherapy and those on levodopa and dopamine agonists, or between patients taking ergoline or non-ergoline dopamine agonists. In PD patients and in controls, sleepiness was significantly associated with reported heavy snoring. Increased daytime sleepiness is more frequent in patients with PD than in elderly controls. Similar to controls, increased daytime sleepiness in PD patients is correlated with heavy snoring.

Aged↗