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Biomedical subjects

B Hagberg

Publications and source records attributed to B Hagberg.

At least 19 recordsLinked to original sources
PubMed1992

Rett syndrome: a search for gene sources.

A series of 77 Swedish females with classical Rett syndrome were genealogically traced as far back as possible, in most cases to 1720-1750, or 7-10 generations. Details were collected concerning approximately 8,000 ancestors. Common ancestry was seen in 2 pairs of females with Rett syndrome. Thirty-nine of the 77 Rett females were traced to 9 small and separate rural areas, and 17 pairs even came from the same farm or homestead. The common origin was found equally often among descendants of the father as of the mother. In 9 cases, the father came from one and the mother from another of the 9 specific "Rett areas." These observations, combined with the finding of a raised rate of consanguineous marriages in the paternal as well as in the maternal ancestry, point to a genetic transmission. Analyses of parental ages at birth and of birth order gave normal results.

Adult↗
PubMed1992

Bilateral spastic cerebral palsy--pathogenetic aspects from MRI.

Thirty eight children with bilateral spastic cerebral palsy underwent MRI at the age of 5 years and more. Twenty nine showed correlates of periventricular leucomalacia, which were found especially in preterms (20 out of 21) but also in 9 of 15 fullterms without birth asphyxia. These findings suggest compromising events in the peri- and neonatal period especially in preterms and prenatal 3rd trimenon compromise in most of the fullterms without birth asphyxia.

Adolescent↗
PubMed1992

The epidemiology of progressive encephalopathies in childhood. I. Live birth prevalence in west Sweden.

Progressive encephalopathies in the west Swedish region were investigated in a population-based study. Cases were allocated to one of five main groups: 1) disorders covered by impairments in subcellular organelles, 2) disorders covered by deficiencies in the intermediate metabolism, 3) biochemically undefined neurometabolic disorders, 4) neuroimmunological disorders and 5) a symptom-orientated miscellaneous group. Progressive encephalopathies were identified in 76 of 132,138 children born alive in the study area during the 16-year-period 1970-85. This gives a live birth prevalence of 0.58 per 1000. In Sweden the size of the group corresponds to that of neural tube defects and that of congenital hydrocephalus. However, a vast number of different disorders are represented.

Adolescent↗
PubMed1992

Elevated CSF glutamate in Rett syndrome.

The concentration of free amino acids was measured in the cerebrospinal fluid of four patients with Rett syndrome. The reference material were patients with autistic disorder who had CSF aminoacid levels similar to those reported for healthy children. The concentration of glutamate-but of no other amino acid-was markedly elevated in the CSF of the RS patients. The results are discussed in the context of excitotoxicity in neurodegenerative disease.

Adult↗
PubMed1992

The Rett syndrome: an introductory overview 1990.

The position at the end of 1990 of clinical experiences and research in the Rett syndrome (RS) is summarized. Aspects on clinical and pathogenetic heterogeneity are given. Supports for RS as a developmental neuronal disconnection condition, with early infantile brain growth arrest, are emphasized. In trying to explain origin a two step process is hypothetically suggested: 1) an age dependent genetic deficiency, or transient dysfunction, as a basic predisposing factor; 2) a superimposed trigger factor which might differ in type and between groups of cases.

Child, Preschool↗
PubMed1991

[Dementia is not the only mental problem among the elderly. Long-term perspective is important for care].

The entire 1902 and 1903 birthyear cohorts in the catchment area of Dalby Community Health Centre in southern Sweden have been followed with health examinations and interviews every second year since 1969-70. Of the total of 192 subjects, complete data are available for 153. Of 65 subjects surviving at the age of 83, 6 per cent were advanced dementia cases, 11 per cent were in the early stages of dementia, and a further 17 per cent were afflicted with other mental problems requiring help and care. Of those who died before the age of 83, 11 per cent were afflicted with dementia, with a further 4 per cent in the early stages, and 17 per cent had other mental problems. Thus, the overall risk of dementia is at least 16 per cent, but may eventually turn out to be as high as 30 per cent, while those with other forms of mental dysfunction, serious enough to require help in ADL, account for a similar proportion. The annual incidence of dementia is 7.5 per mill (10.6 per mill including those in early stages). The risk of institutionalisation and death was much higher among the dementia victims, most of whom had had little support from the social services, and some none at all, before being institutionalised. Dementia victims came into contact with the medical services much earlier than did mentally healthy patients with other, often vague and more varied symptoms. It is argued in the article that current concern with dementia should not be allowed to divert our attention from the needs, diagnosis and care of the many elderly patients with other mental problems.

Aged↗
PubMed1991

Stability and change of personality in old age and its relation to survival.

Stability of personality characteristics with increasing age was analyzed in a Swedish longitudinal study using a modified version of the Rod-and-Frame Test. This test was analyzed in a serial manner in order to emphasize cognitive style. Two important findings emerged. First, during the 6 years between the ages of 67 and 73, 80% of the study participants showed stability in the field independence-dependence dimension. Second, stability of the field independence-dependence trait between ages 67 and 73 predicted survival to age 83, whereas destabilization (i.e., changes of Rod-and-Frame Test classification) was significantly associated with earlier death. In most cases, destabilization meant that field-independent subjects became field dependent. The results are discussed in relation to dispositional and situational factors. Causative factors for destabilization are hypothesized.

Aged↗
PubMed1991

Symptomatology of late onset Krabbe's leukodystrophy: the European experience.

The authors present a study of 50 patients with late onset Krabbe's leukodystrophy (LOKL), including 27 from a pooled European Series collected in 1987, and 23 published between 1906 and 1987. In Europe, the disease appears to be relatively frequent in Sicily and exceedingly rare in Sweden. Most cases started before the age of 5 years. The initial signs consisted mainly of progressive motor impairment, although, characteristically, visual failure was the initial manifestation in 25% of patients. Low nerve conduction velocities and a high protein content in the CSF were only present in 50%. There was no age-linked symptomatic predominance. The pace and length of the disease was very variable, but in one-third of the children before the age of 3 the course was remarkably rapid. There was no difference in the residual activity of galactosylceramide galactosidase in LOKL compared to the early infantile form.

Ataxia↗
PubMed1990

Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations.

We report on the first family in which Rett syndrome (RTS) appeared in two consecutive generations. The index case is a 12-year-old girl (classical RTS); her maternal aunt, age 44 years, has mild RTS. Clinically, the family illustrates the wide phenotypic variability between cases, particularly in severity of neurological manifestations. We have analyzed the short arm of the X-chromosome of the family with gene technology. This did not uncover any genetic marker for diagnosis, but it did suggest how the syndrome might have segregated in the family. A cytogenetic analysis gave no information about chromosome abnormalities.

Adult↗
PubMed1990

Polyneuropathies in paediatrics.

Non-acute polyneuropathies (PNPs) encountered in paediatrics are reviewed. Emphasis is placed on three main groups of conditions: the relatively rare but treatable dysimmune PNP (chronic relapsing dysimmune polyneuropathies, CRDP); the more common hereditary motor/sensory neuropathies (HMSN and HSN); and the often missed symptomatic neuropathies of some heredodegenerative and neurometabolic disorders. Diagnostic procedures are discussed. One conclusion drawn is that so far metabolic screening procedures do not give any diagnostic or aetiological information in HMSN or in HSN, nor in heredoataxias or heredoparaplegias. When a specific neurometabolic disease is suspected from the clinical symptomatology, individually structured investigations are necessary.

Adolescent↗
PubMed1990

Early stages of the Rett syndrome and infantile neuronal ceroid lipofuscinosis--a difficult differential diagnosis.

The Rett syndrome (RS) and infantile neuronal ceroid lipofuscinosis (INCL) are known clinically to present with quite similar manifestations in the very first stages of disease. Ten girls, born 1982-85, from the Swedish series of RS, were compared with 6 children with biopsy-confirmed INCL, deriving from 4 families, as to neurodevelopmental, neurological, ophthalmological, neurophysiological, and CT data. The rapid regression at 1-2 years of age with loss of acquired fine motor skill, learned words, and communication were found to be inseparable between the diseases, as were the successively developing hand and finger stereotypies. Early clues for differential diagnosis were the appearance of transient drop spells, loss of head control, and irregular myoclonias in INCL, flattening of the EEG, early cortical atrophy indicated at CT, and particularly abnormal ERGs. For accurate diagnosis of INCL a biopsy with characteristic EM findings of "snowball" aggregates is a necessity. After 2 3/4-3 years of age, a clinical differentiation was possible in all cases, with visual failure and rapidly decreasing motor ability, head control deterioration, hyperexcitability, and trunk-limb extension tonus being characteristic for INCL.

Child, Preschool↗
PubMed1990

The Rett syndrome: gross motor disability and neural impairment in adults.

Profile and variation of gross motor disability and neural impairments were studied in a series of 30 women, aged 22-44 years, fulfilling the diagnostic criteria for the Rett syndrome (RS). The sequential development of neurological signs and a movement disorder causing immobility in 80% were found. On the basis of acquired and sustained walking ability, the women could be divided into three groups: one comprising those 20% still walking (group III), one those 60% previously walking (group IVA) and the third those 20% who had never developed walking ability (group IVB). Spastic signs, seldom prominent, were found in all the three groups, while dystonic signs were most common in those previously walking, and weakness and wasting in the group that never acquired that skill. Early progressive scoliosis, peroneal weakness and excavated feet, interpreted as lower motor neuron signs mainly due to spinal tract impairment, were most extensive among those never able to walk. Loss of walking was considered a consequence of deranging combinations of weakness and dystonia. The patterns of neuromotor disturbances are discussed in relation to other manifestations of RS.

Adult↗
PubMed1990

CSF beta-endorphins in childhood neuropsychiatric disorders.

Thirty-one children with autistic disorder, 8 with the Rett syndrome (RS), 2 with childhood disintegrative disorder and 5 with infantile spasms were compared with healthy adult controls with respect to cerebrospinal fluid (CSF) beta-endorphin levels. The autistic disorder and RS groups showed significantly lower values than the other groups. There were no age trends within the various groups. Further study of CSF beta-endorphins in these disorders and blindly examined age matched controls is warranted.

Adolescent↗
PubMed1990

CSF and urine biogenic amine metabolites in Rett syndrome.

The metabolites of dopamine (homovanillic acid-HVA), noradrenaline (4-hydroxy-3-methoxy-phenylglycol-HMPG), and serotonin (5-hydroxyindoleacetic acid-5-HIAA) were measured in cerebrospinal fluid (CSF) from 38 patients and urine from 36 patients with typical Rett syndrome (RS) and compared with controls of similar age. CSF metabolite concentrations were the same in the patients and controls. Urinary metabolites expressed per mol creatinine were significantly higher in older RS patients. This difference is partly explained by lower urinary creatinine levels in older RS patients, due to their known reduction in muscle mass. Alterations in CSF or urine biogenic amine metabolite concentrations do not appear to represent the primary abnormality in RS, and their measurement cannot be regarded as a reliable means of diagnosis.

Adolescent↗