ABSTRACT
In 1986 Andermann et al. described a syndrome presenting with renal failure, myoclonus, cerebellar symptoms, and epilepsy. They presumed a hereditary cause. We describe the first appearance of this syndrome in Europe, affecting three family members with comparable symptoms. Two of these patients were treated by us, and the third, already decreased, is described according to the available reports. The first clinical symptoms were manifested between the ages of 14 and 20. A female patient suffered from compensated kidney insufficiency and her two brothers aged 18 and 26 required dialysis. Biopsy of kidney tissue revealed nonspecific nephritis. All cases showed a cerebellar syndrome and action myoclonus. Two of them were diagnosed with epilepsy and grand mal seizures, and all suffered from demyelinizing or mixed polyneuropathy. Anamnesis of the family seems to indicate autosomal recessive inheritance.
Subject(s)
Epilepsy/genetics , Kidney Failure, Chronic/genetics , Myoclonus/genetics , Adolescent , Adult , Cerebellar Diseases/diagnosis , Cerebellar Diseases/genetics , Chromosome Aberrations , Electroencephalography , Epilepsy/diagnosis , Epilepsy, Tonic-Clonic/diagnosis , Epilepsy, Tonic-Clonic/genetics , Female , Genes, Recessive/genetics , Humans , Kidney Failure, Chronic/diagnosis , Male , Myoclonus/diagnosis , Neurologic Examination , Pedigree , SyndromeABSTRACT
BACKGROUND: False-positive and false-negative answers to screening questions influence prevalence and incidence estimations for stroke in population studies. Despite frequent use in screening, only a few studies have examined causes and influence of incorrect self-reports. We compared the rates of false-positive and false-negative answers to a single question about prior stroke to those of the Stroke Symptom Questionnaire (SSQ), a newly developed instrument based on 6 symptom questions. Differences in stroke prevalence estimations and risk factors for incorrect reports are described. METHODS: The MEMO study (Memory and Morbidity in Augsburg Elderly) examines cognitive function and neurodegenerative diseases in an elderly population (n = 384) in southern Germany. All participants filled in the symptom questionnaire, received a neurological examination and a neuropsychological test battery. Medical records were obtained for event validation of subjects positive on screening and those negative on screening with symptoms suggesting a cerebrovascular event during examination. RESULTS: Prevalence of total stroke was 5. 3% using a single screening question and 6.8% using the questionnaire. The false-negative rate was higher for the single-question approach (34.2 versus 10.5%). It was strongly influenced by gender and cognitive function. The questionnaire had a higher false-positive rate than the single question. Based on the results, we established question combinations that best served three different research scenarios (frequency estimation, risk factor analysis, control selection), relevant to stroke research in population studies. CONCLUSIONS: A single screening question for stroke in the past with event validation by medical records underestimates stroke frequency in population studies by about 30%. Use of a number of questions for key symptoms combined with a general stroke question, as in the SSQ, improves the completeness of event ascertainment and allows the detection of stroke and transient ischemic attack at the same time.
Subject(s)
Stroke/epidemiology , Surveys and Questionnaires , Aged , Aged, 80 and over , Bias , Cognition/classification , Epidemiologic Studies , False Negative Reactions , False Positive Reactions , Female , Humans , Male , Neuropsychological Tests , PrevalenceABSTRACT
OBJECTIVE: To evaluate prevalence, sociodemographic characteristics, and risk factors of restless legs syndrome (RLS) in a population-based survey of the elderly, using standard diagnostic criteria. BACKGROUND: Population-based studies of RLS are rare and have not yet used standard definition criteria. METHODS: The Memory and Morbidity in Augsburg Elderly (MEMO) Study is a follow-up project of the World Health Organization Monitoring Trends and Determinants in Cardiovascular Disease (MONICA) Survey-Augsburg, Germany, 1989-1990, evaluating neurologic diseases and their risk factors in a German population 65 to 83 years of age. Two RLS-trained physicians assessed the prevalence of RLS based on the four minimal standard criteria (International Restless Legs Syndrome Study Group, 1995) using standardized questions in face-to-face interviews. They also obtained information on medical history, medications, depression (Center of Epidemiologic Studies Depression Scale), and quality of life (Short Form 36) and performed a standardized neurologic examination for each participant. RESULTS: The study population included 369 participants (173 women and 196 men). The overall prevalence of RLS was 9.8% (n = 36) and higher in women (13.9% versus 6.1%; p = 0.02). In women, the prevalence did not change with age, whereas men showed a nonsignificant inverse trend with increasing age. RLS-positive individuals took more benzodiazepines and estrogen compared with non-RLS cases, but the differences were not statistically significant. Participants with RLS had higher incidence of depression (p = 0.012) and lower self-reported mental health scores (p = 0.029) than did non-RLS cases. CONCLUSIONS: RLS is a frequent syndrome in the elderly with considerable impact on self-perceived mental health, affecting women about twice as often as men.
