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Biomedical subjects

Birgit Högl

Publications and source records attributed to Birgit Högl.

18 recordsLinked to original sources
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

Periodic limb movement counting in polysomnography: effects of amplitude.

BACKGROUND AND PURPOSE: This study investigates the relationship between periodic limb movement (PLM) counts obtained with standard scoring criteria and PLM counts scored without amplitude criterion (AC). PATIENTS AND METHODS: Twenty-four sleep laboratory patients with a PLM index (PLMI) >5 per hour of sleep in a previous polysomnography (PSG) underwent a full night of digital PSG. PLM were twice scored manually: first, according to standard criteria, and second, without AC. RESULTS: The overall PLMI for time in bed was 34.4+/-30.7 with AC and 50.2+/-36.4 without AC. The PLMI in non-rapid eye movement (NREM) sleep was 45.3+/-40.1 versus 63.4+/-47.6 (P<0.001), in REM sleep 11.5+/-15.1 versus 25.7+/-35.4 (P=0.001) and in wakefulness 29.0+/-31.1 versus 46.0+/-36.1 (P<0.001) with and without AC (Wilcoxon tests). CONCLUSIONS: In comparison to PLM counts obtained with standard criteria, PLM counts obtained without consideration of amplitude are remarkably higher. Counting without AC increases the sensitivity to detect small PLM and probably allows for identification of PLM sequences which would not have fulfilled the periodicity criteria otherwise. PLM counts without AC might be more useful to investigate the periodicity of PLM and possible changes with treatment.

Drug Therapy↗
PubMed2006

Levodopa-induced sleepiness in the Parkinson variant of multiple system atrophy.

Recent observations suggest that levodopa can induce irresistible sleep onset in multiple system atrophy (MSA). Therefore, we assessed sleepiness during a levodopa challenge in 17 MSA compared with 23 Parkinson's disease (PD) patients using the Stanford Sleepiness Scale (SSS). SSS scores during the levodopa challenge compared with baseline were significantly increased in the MSA compared with the PD group. These findings suggest greater potential of levodopa to induce sleepiness in MSA compared with PD, which may be related to differences in basal ganglia and brainstem pathology between the two disorders.

Aged↗
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

Restless legs syndrome: diagnostic assessment and the advantages and risks of dopaminergic treatment.

In the past few years, major advances have been made in the field of restless legs syndrome (RLS). New tools have been developed to assess the presence and severity of RLS and its complications. Furthermore new concepts of the phenotype are emerging.With a high likelihood a slight dopaminergic hypofunction contributes essentially to the pathophysiology of most phenotypes of RLS. Dopaminergic substitution either with L-DOPA or with dopamine agonists ameliorates symptoms in the large majority of patients. Too high of doses of either type of drug may be involved in the development of augmentation caused by treatment-induced alterations in dopaminergic neurotransmission. Dopaminergic agents are currently the agents of first choice to treat RLS, and large multicenter trials support the evidence of efficacy. Very careful tailoring of the dose is required to avoid the development of treatment complications, specifically augmentation.

Dopamine Agonists↗
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↗
PubMed2005

Transcranial ultrasound shows nigral hypoechogenicity in restless legs syndrome.

In patients with Parkinson's disease, hyperechogenicity of the substantia nigra using transcranial ultrasound has been related to increased tissue concentrations of iron. Recently, deficient iron transport mechanisms in substantia nigra neurons have been described in postmortem tissue of patients with restless legs syndrome (RLS). This study was performed to study substantia nigra echogenicity in RLS patients compared with normal control subjects and Parkinson's disease patients. RLS patients had significantly reduced midbrain areas of hyperechogenicity compared with control subjects, and even more markedly reduced hyperechogenicity compared with Parkinson's disease patients. These findings lend further support to nigral iron deficiency as a pathogenetic factor in RLS.

Aged↗
PubMed2005

Prevalence of movement disorders in men and women aged 50-89 years (Bruneck Study cohort): a population-based study.

BACKGROUND: There is emerging awareness that movement disorders rank among the most common neurological diseases. However, the overall burden of these disorders in the general community is not well defined. We sought to assess the prevalence of all common categories of movement disorders in a population, accounting for sex differences and age trends. METHODS: As part of an ongoing prospective population-based study of carotid atherosclerosis and stroke risk (the Bruneck Study), a total of 706 men and women aged 50-89 years underwent a thorough neurological assessment. The diagnosis of movement disorders and ratings for disease severity were based on standard criteria and scales. Prevalences were estimated from logistic regression models (regression-smoothed rates) and standardised to the age and sex structure of the general community. FINDINGS: The prevalence of all common categories of movement disorders was 28.0% (95% CI 25.9-30.1). Proportions in men (27.6% [95% CI 24.5-30.7]) and women (28.3% [25.5-31.2]) were closely similar and sharply increased with age (from 18.5% [15.0-22.0] in 50-59-year olds to 51.3% [44.9-57.7] in 80-89-year olds). Almost half of all patients (90/214) had moderate-to-severe disease expression, but only 7.0% (15/214) received standard drug treatment. Prevalence of tremor was 14.5%, followed by restless legs syndrome (10.8%), parkinsonism (7%), primary dystonia and secondary dystonia (1.8%), and chorea and tics (<1% each). A fifth of all movement disorders were diagnosed to be probably drug-induced. INTERPRETATION: There is a high prevalence of and substantial under-recognition and under-treatment of movement disorders in the general community.

Age Factors↗
PubMed2005

Restless legs syndrome.

PURPOSE OF REVIEW: In the review period since February 2004 a number of papers have been published that make significant contributions to the current understanding of the epidemiology, clinical assessment, pathophysiology and treatment of restless legs syndrome. Those with the most significant findings were selected and will be reviewed. RECENT FINDINGS: Several epidemiological studies about restless legs syndrome have become available in the review period. A new susceptibility locus for restless legs syndrome has been reported. Neuropathological studies have provided profound insights into the key role of iron regulation in the pathophysiology of restless legs syndrome. Several randomized, double-blind, placebo-controlled studies have demonstrated that dopamine agonists are efficacious in the treatment of restless legs syndrome. A few pilot treatment studies with intravenous iron have been performed. SUMMARY: In this paper, recent advances in the field of restless legs syndrome are reviewed. Special emphasis is placed on pathophysiology and treatment. Restless legs syndrome is still an underdiagnosed disorder. The evidence basis for its treatment has been considerably increased in the review period.

Anticonvulsants↗
PubMed2004

Akathisia, restless legs and periodic limb movements in sleep in Parkinson's disease.

Restless legs syndrome (RLS) symptoms are often reported in Parkinson's disease (PD), but prevalence studies of RLS in PD are few and the results are inconsistent. In addition, clinical overlapping between RLS, "wearing-off"-related lower limb discomfort and restlessness, and akathisia complicate the clinical assessments of true RLS in PD. Underlying pathophysiology potentially shared by RLS and PD is mainly suggested by similarities in treatment response. Functional imaging studies in RLS are still inconclusive, although some authors have found subtle deficits in nigrostriatal terminal function. Long-term prospective studies of RLS cohorts will clarify whether or not RLS is associated with an increased risk for development of PD.

Akathisia, Drug-Induced↗
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↗
PubMed2003

The effect of cabergoline on sleep, periodic leg movements in sleep, and early morning motor function in patients with Parkinson's disease.

To investigate the effect of the dopamine D2 and D1 receptor agonist cabergoline on sleep, periodic leg movements (PLMs) in sleep, and early morning motor performance in patients with Parkinson's disease (PD). It was hypothesized that cabergoline had long-lasting beneficial effects on sleep and PLMs in sleep in patients with PD, after a single evening intake. A total of 15 patients with idiopathic PD underwent two nights of polysomnography and motor tests (UPDRS, tapping test) before and after 6-8 weeks of treatment with cabergoline (dosage: 3-6 mg/day). Additionally, patients completed a subjective sleep visual analog scale (VAS) before and during cabergoline treatment. Compared to baseline values, treatment with cabergoline did not change sleep efficiency or the amount of stage 1 and stage 2 sleep. The number of awakenings (22.4+/-10.1 vs 32.5+/-13.3, p<0.05) and stage shifts (119+/-42 vs 148+/-46, p<0.05) were increased during treatment with cabergoline, and PLMs in sleep were reduced (PLM index 34.9+/-44.9 vs 6.7+/-4.2 per hour, p<0.05). Cabergoline significantly improved early morning motor function, and in spite of increased phase shifts and awakenings, patients felt significantly more refreshed in the morning during cabergoline therapy. Cabergoline slightly fragmented sleep, without altering its total amount. The functional significance of this finding is uncertain. The subjective quality of sleep improved, and periodic limb movements in sleep decreased.

Activities of Daily Living↗
PubMed2002

Management of respiratory deterioration in a pregnant patient with severe kyphoscoliosis by non-invasive positive pressure ventilation.

The problem of kyphoscoliosis in combination with pregnancy is uncommon and published cases are rare. Until now, little and controversial information on the outcome, optimal management and course of pregnancy in patients with kyphoscoliosis has been available. The majority of maternal deaths seem to be attributed to cardiorespiratory failure, while obstetric complications account for relatively few complications. We present the case of a 34-year old pregnant woman with congenital kyphoscoliosis and a forced vital capacity (FVC) of about one liter. A further deterioration of lung function was expected. In fact, severe limitations in exercise capacity (bed rest), fatigue and hypersomnolence, as well as a severe increase in pulmonary hypertension occurred during the second and third trimester. Nasal intermittent positive pressure ventilation (NIP-PV) with bilevel positive airway pressure (BiPAP) was started in the 20th week of gestation and adapted throughout pregnancy. Nasal BiPAP was well-tolerated and corrected exercise tolerance, fatigue and nocturnal oxygen desaturations. At 32 weeks of gestation, the patient was admitted for an elective Caesarean section under combined spinal-epidural anaesthesia with ongoing NIPPV, and delivered a healthy baby. Home nocturnal ventilatory support was continued as nocturnal episodic desaturations were also assessed during the postpartum period. At time of discharge, the patient's exercise capacity and lung function were nearly equal to levels before pregnancy. We conclude that pregnancy in selected kyphoscoliotic patients with severe limitations in lung function is relatively safe for both the mother and the child when NIPPV is used for overcoming respiratory deterioration and for preventing further cardiorespiratory failure.

Adult↗