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Biomedical subjects

L Forsgren

Publications and source records attributed to L Forsgren.

At least 55 records · Page 3Linked to original sources
PubMed1996

Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients.

We describe 36 patients (six were apparently sporadic cases and 30 were cases from nine families) with amyotrophic lateral sclerosis (ALS) characterized by a distinct phenotype associated with homozygosity for an Asp90Ala mutation in the CuZn-superoxide dismutase gene. The presenting motor manifestation in all patients was paresis in the legs, with slow progression to the upper extremities and finally to the bulbar muscles. The age of ALS onset varied from 20 to 94 years, with a mean of 44 years. Mean survival time was 13 years for the 11 deceased patients. However, this is probably biased and untypical (low) when compared with the disease duration in the surviving patients, and when considering other medical complications in the deceased patients. The rate of progression was highly variable, even within families. All patients showed signs of involvement of both upper and lower motor neurons. Other neurological features included painful muscle spasms and paraesthesiae in the lower extremities. Two-thirds of patients experienced difficulty with micturition. Electrophysiological studies confirmed the slow progression and spatial distribution of clinical symptoms in the peripheral motor system. Furthermore, [corrected] potentials evoked by transcranial magnetic stimulation (MEP) were compared with those evoked by cervical or lumbosacral electrical stimulation and often revealed marked slowing of transmission in central motor pathways. In Sweden and Finland ALS patients homozygous for the Asp90Ala mutation constitute a phenotypically characteristic subset of motor neuron disease.

Adult↗
PubMed1996

Incidence and clinical characterization of unprovoked seizures in adults: a prospective population-based study.

In a population-based prospective study of epileptic seizures in adult s aged > 17 years, we identified 563 patients with possible seizures in a period of 34 months. Seizures were unprovoked in 160 patients, an incidence of 56 in 100,000 person-years. There was no difference in incidence between sexes. Age-specific incidences of unprovoked seizures increased sharply in men from age 60 years and in women from age 70 years. The incidence of unprovoked seizures in those aged > 65 years was 139 (men 166, women 116). The cumulative incidence of unprovoked seizures between the ages of 17 and 84 years was 4.6%. The proportion with an identified presumptive cause for unprovoked seizures increased with advancing age. A presumed etiology was identified in 77% of persons aged > 60 years. Stroke was the most common etiology, detected in 30% (incidence 16) and in 45% at ages > 60 years. Tumors were detected in 11% (incidence 6) and Alzheimer's disease was detected in 7% (incidence 4). Eighteen percent of patients were demented. Unprovoked seizures were partial in 68% of cases (incidence 38), and generalized in 16% (incidence 9). Another 13% of patients had generalized seizures, but seizure onset was not witnessed (incidence 7). In 16%, there was a delay of > 1 year from the first unprovoked seizure to initial diagnosis.

Adolescent↗
PubMed1996

Epidemiology and clinical characteristics of seizures in patients with acute intermittent porphyria.

The objectives of this study were to investigate the lifetime prevalence of epileptic seizures in a population with acute intermittent porphyria (AIP) and to characterize the seizures and the seizure-triggering factors. A letter was sent to all patients with known AIP in Sweden registered at the National Porphyria Center (n = 294). The medical records of patients who had had epileptic seizures were reviewed in detail. The letter was answered by 268 patients (91.2%). Ten patients (3.7%) reported epileptic seizures. Eight were women (mean age 54.1 years, range 30-81 years), and 2 were men (mean age 19 years, range 9-29 years). Six patients had tonic-clonic seizures and 4 had partial seizures becoming secondarily generalized. Serum sodium levels were low in 3 patients (mean 110, range 103-120 mM), and normal in 5. Excretion of 5-aminolevulinic acid (ALA) in the urine was increased in 4 patients at the time of the seizures. In 6 patients, the seizures were associated with an acute attack of AIP (all patients with hyponatremia included). The lifetime prevalence of AIP-associated seizures was 2.2% of all those with known AIP and 5.1% of all those with manifest AIP. Epileptic seizures among persons with AIP are less common than has been previously described.

Adolescent↗
PubMed1996

Influence of epilepsy on mortality in mental retardation: an epidemiologic study.

PURPOSE: A cohort consisting of all persons with known mental retardation (MR) and living in a Swedish province on December 31, 1985, was followed for 7 years (1987-1992) to study the mortality pattern. METHODS: A file of the cohort was linked to the cause-of-death pattern of the general population in the study area. RESULTS: One hundred twenty-four deaths (8.4%) occurred among the 1,478 persons with MR. Thirty deaths (10.1%) occurred among the 296 persons with epilepsy and MR. The standardized mortality ratio (SMR) in those with only MR was significantly increased as compared with that of the general population: 1.6 [95% confidence interval (CI) 1.3-2.0]; MR and epilepsy, 5.0 (CI 3.3-7.5); and MR, epilepsy, and cerebral palsy (CP), 5.8 (CI 3.4-9.7). Mortality was increased both in patients with partial seizures without seizures secondarily generalized (SMR 3.7, CI 1.0-13.6) and in patients with seizures secondarily generalized (5.0, CI 2.3-11.0). The highest mortality occurred in patients who had seizures that were always generalized from the onset: 8.1 (CI 5.7-11.5). Mortality increased with increasing seizure frequency during the year preceding the prevalence date. In patients with epilepsy and MR, pneumonia was the most common cause of death and a seizure was the probable cause of death in 6.7%. CONCLUSIONS: Epilepsy is associated with a significantly increased mortality in persons with MR. The increase is related to seizure type and seizure frequency. Death in persons with epilepsy and MR is seldom directly due to seizures. Other impairments associated with epilepsy and MR are important causes of death.

Adult↗
PubMed1996

Perceptions of blindness.

A study in a mainly rural area of Ethiopia has revealed that sighted, unilaterally blind and totally blind people have many misconceptions about blindness. The work of cure and prevention demands that widespread ignorance about the causes and implications of blindness be overcome.

Blindness↗
PubMed1995

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.

Recent reports have shown heterozygosity for some twenty different mutations in the CuZn-superoxide dismutase (CuZn-SOD) gene in familial amyotrophic lateral sclerosis (FALS), and analysed samples from patients have shown decreased enzymic activity. Here we report homozygosity for an exon 4 mutation, Asp90Ala in fourteen patients among four unrelated ALS families and four apparently sporadic ALS patients from Sweden and Finland. The erythrocyte CuZn-SOD activity is essentially normal. Our findings suggest that this CuZn-SOD mutation causes ALS by a gain of function rather than by loss, and that the Asp90Ala mutation is less detrimental than previously reported mutations.

Adult↗
PubMed1995

Migraine, chronic tension-type headache, and cluster headache in an Ethiopian rural community.

Fifteen-thousand-five-hundred adults (> or = 20 years) in a rural district in Ethiopia with a population of 250,000 were studied for chronic headache. Door-to-door survey was performed by trained lay health workers using a questionnaire with a high degree or reliability and validity. The 1-year prevalence of migraine headache was 3.0% (4.2% for females and 1.7% for males) with the peak age specific rate in the fourth decade. Migraine headache was about three times more common in females than in males at any decade. Two-thirds of migraine sufferers had rather frequent attacks. The most frequent trigger factors were emotional stress (90%), changes of weather (78%), physical exhaustion (75%), and smell (70%). Migraine with aura was rare. Family occurrence of migraine in first-degree relatives was 30%. The 1-year prevalence of chronic tension-type headache was 1.7%, while cluster headache was found to be extremely rare. Compared to similarly performed surveys, the prevalence of migraine among rural Ethiopians was less than among Nigerian Africans.

Adult↗
PubMed1995

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.

We present linkage analysis on a large Swedish five-generation family of 15 affected individuals with autosomal dominant cerebellar ataxia (ADCA) associated with retinal degeneration and anticipation. Common clinical signs in this family include ataxia, dysarthria and severely impaired vision with the phenotype ADCA type II. Different subtypes of ADCA have proven difficult to classify clinically due to extensive phenotypic variability within and between families. Genetic analysis of a number of ADCA type I families shows that heterogeneity exists also genetically. During the last few years several types of ADCA type I have been localized and to date six genetically distinct forms have been identified including SCA1 (6p), SCA2 (12q), SCA3 and Machado-Joseph disease (MJD) (14q), SCA4 (16q), and finally SCA5 (11). We performed a genome-wide search of the Swedish ADCA type II family using a total of 270 microsatellite markers. Positive lod scores were obtained with a number of microsatellite markers located on chromosome 3p12-p21.1. Three markers gave lod scores over 3 with a maximum lod score of 4.53 achieved with the marker D3S1600. The ADCA type II gene could be restricted to a region of 32 cM by the markers D3S1547 and D3S1274.

Cerebellar Ataxia↗
PubMed1995

Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family.

A gene (DYT1) for early onset idiopathic torsion dystonia was mapped to chromosome 9q34 in non-Jewish and Jewish families. The DYT1 gene region has been excluded in other families with adult onset and cervical or cranial onset idiopathic torsion dystonia from the United States, Great Britain, and France. The role of DYT1 in a Swedish family with adult onset idiopathic torsion dystonia in four generations was examined. The disease seems to be inherited in an autosomal dominant mode with reduced penetrance in this family. There were 10 affected family members, with a mean age of onset of 27 (range 18 to 50) years. The disease showed variable expression, with focal, multifocal, and generalised forms of dystonia in different family members. Genetic analysis excluded the chromosomal region containing the DYT1 locus as being responsible for dystonia in this family.

Adolescent↗
PubMed1995

Causes of visual impairment in central Ethiopia.

A survey conducted on a stable, mainly rural population of 60,820 in Central Ethiopia revealed an overall blindness prevalence of 1.1%. A follow up study was carried out to accurately determine the etiologies and causes of visual loss and impairment. A detailed ophthalmic evaluation was done on 523 out of 872 individuals identified as being visually impaired. The results showed that 194 (37%) were blind (Categories 3, 4, and 5 = maximum visual acuity less than 3/60 in the better eye). One hundred and seven (21%) (Categories 1 & 2 = maximum visual acuity better than 3/60 to less than 6/18 in the better eye using the WHO categories of visual impairment). The rest 222 (43%) were blind in one eye only. The commonest anatomical cause of blindness is corneal (32%). Cataract (25%), atrophied globe(s) (20%) and glaucoma (17%) follow as the other leading causes. Trachoma (35%), degenerative conditions (35%) and other infections (9%) were the major etiologies of blindness. Similar pattern of anatomical causation was observed in those classified under categories of visual impairment 1 and 2, referred to as "low vision". The most important etiologies of low vision were trachoma (30%), degenerative (24%), trauma (13%) and other infections (8%). Trauma was the most important etiology of monocular blindness (39%). Blindness was either preventable or curable in 74% of the cases.

Adolescent↗
PubMed1994

Blood pressure patterns and its correlates in schoolchildren of an Ethiopian community.

This study was undertaken to define blood pressure pattern in a sample of schoolchildren in an Ethiopian rural community. All schoolchildren below the age of 15 years in Butajira town formed the study population. Blood pressure measurement which was made according to the recommendations of the American Task Force on blood pressure control in children was found to be unimodal with almost symmetrical distribution. The mean systolic and mean diastolic blood pressure for both sexes combined was 106 +/- 14.8 and 70.5 +/- 4.5 mmHg, respectively. The mean systolic and mean diastolic blood pressures increased with age in both boys (P < 0.05) and girls (P < 0.01). Girls had significantly higher mean systolic and mean diastolic blood pressures than boys (P < 0.001). Similarly, girls had significantly higher pulse rate and arm-girth than boys which may partly explain the higher mean pressures in the girls. A multiple regression analysis showed that height, body mass index, arm-girth, and heart rate were significant in explaining the variations in systolic and diastolic blood pressures. In conclusion, except for the higher blood pressure in girls, our findings are similar to the majority of the reports from Africa and other parts of the world.

Adolescent↗
PubMed1994

The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q.

A gene (DYT1) for susceptibility to early-onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32-q34 in a 6-7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myoclonic jerks responsive to alcohol was consistent with a gene in this region, we studied the 37 members of a Swedish family, of whom 20 were so affected. A lod score of < -2.00 from a two-point linkage analysis with six DNA markers covering a 30 cM span from D9S26 to D9S10 that included the region of the DYT gene indicated that this gene is not located in this region, and that two or more autosomal loci are responsible for hereditary dystonia in humans.

Alcohols↗
PubMed1994

Familial clustering of multiple sclerosis in a northern Swedish rural district.

A small rural district in the most northerly province of Sweden was found to have a very high occurrence of multiple sclerosis. A total of 12 patients with multiple sclerosis among 4744 inhabitants were identified (five females, seven males), corresponding to a prevalence of 253/100,000. Many of the patients were related and a further 21 cases with multiple sclerosis (14 females, seven males), mostly living in the neighbouring area, have family ties to the district. A genealogical investigation showed that 22 of the 33 patients identified had ties of kinship and thus, to our knowledge, the largest aggregation of multiple sclerosis in a family is presented.

Adolescent↗
PubMed1993

Striatal [11C]-N-methyl-spiperone binding in patients with focal dystonia (torticollis) using positron emission tomography.

Specific binding of [11C]-N-methyl-spiperone to striatal dopamine D2 receptors was assessed using positron emission tomography (PET) in 6 patients with adult-onset focal dystonia (predominantly spasmodic torticollis) and in 5 healthy subjects. No significant difference in average specific striatal tracer uptake between patients and healthy subjects was found. However, in the 5 patients showing lateralisation of clinical signs a trend to higher striatal tracer uptake in the contralateral hemisphere was observed.

Adolescent↗
PubMed1993

A community-based prospective incidence study of epileptic seizures in children.

During a 20-month period, an attempt was made to find all children with unprovoked non-febrile seizures. The first attendance and incidence rates were 95 and 89/100,000, respectively, in the age group 0-15 years. These figures are lower than those found 10 years earlier in the same area. The highest incidence was during the first year of life and there was a higher proportion of girls (male:female ratio 1:1.4). Generalized seizures dominated in the first year of life. The incidence of benign childhood epilepsy with centro-temporal spikes was 10.7/100,000 and was the most common epilepsy syndrome found. The incidence of partial seizures increased with age up to the age of 10 years. One in 10 children had a history of febrile convulsions.

Adolescent↗
PubMed1992

Rheumatic heart disease prevalence among schoolchildren of an Ethiopian rural town.

Rheumatic heart disease (RHD) is the most important cardiovascular disease in hospital practice in Ethiopia. However, the prevalence rate of RHD at the community level remains unknown. The current survey was undertaken to estimate its prevalence among schoolchildren of a central Ethiopian rural town (Butajira). Accordingly, 92.8% of the entire schoolchildren (n = 3.235) in the town were screened. Their mean age was 13.4 +/- 3.5 years. Fifteen children, accounting for a rate of 4.6/1,000, were noted to have findings consistent with RHD. Females and older children were more frequently affected. Only 2 of the 15 students were aware of their disease, and neither of them were on regular secondary prophylaxis. Our finding is consistent with the hospital-based reports that showed RHD to be a common disorder in clinical practice. At the same time, the lack of awareness about their disease noted among the cases is worrisome and deserves serious attention.

Adolescent↗
PubMed1992

Attitudes of rural people in central Ethiopia towards leprosy and a brief comparison with observations on epilepsy.

To find out public attitudes toward leprosy a door-to-door survey was carried out in 1546 sampled households in the rural farming community of Meskan and Mareko in central Ethiopia, where the prevalence of leprosy is estimated to be 1:1000. Attitudes toward leprosy were compared with attitudes to epilepsy, studied in a previously performed survey in the same community. Eighty-seven per cent of the respondents were above the age of 25, and 59.5% were females. There were slightly more Muslims (54%) than Christians. The majority of the interviewees (87%) were farmers, with an illiteracy rate of 84%. Ninety-five per cent and 83%, respectively, were not willing to employ or work with a person having the disease. Seventy-five per cent would not allow their children to associate with a playmate suffering from leprosy. Comparative analysis of attitudes in the same community showed that negative attitudes toward leprosy were stronger than those toward epilepsy, particularly with regard to matrimonial associations, sharing of accommodation, and physical contact with an affected person. The reasons for these differences appear to be the community's deeply entrenched belief that leprosy is both hereditary and contagious, expressed respectively by 48% and 53% of the respondents. In order to minimize the perpetuation of negative attitudes, there is a need to educate and impress on the population that leprosy is a treatable infectious disease which is not congenitally acquired, and that it is even curable if detected early. The study reinforces previously proposed suggestions that, in developing countries such as Ethiopia, leprosy care should be integrated into the general health services.

Adolescent↗