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Biomedical subjects

H Skre

Publications and source records attributed to H Skre.

35 records · Page 2Linked to original sources
PubMed1975

The significance of "unspecific neuropathy" in hereditary ataxias and related disorders.

Neurological findings such as polyneuropathy, hyporeflexia, deformities, ataxic signs, and inverted plantar responses were found more frequently in unaffected sibs and other close relatives of people with hereditary ataxias or allied disorders (HA) than in a normal population sample. Introduction of a scoring system for neurological signs allowed the degree of neurological impairment to be estimated. The number of people with scores exceeding the limit of normality (sum score higher than 3.4) was counted among the members of HA families. This number was found to be greater in families where HA segregated as a recessive trait than those where it segregated as an autosomal dominant trait. The frequency of cases with high scores ("unspecific neuropathy" (Un)) observed in 1st and 2nd degree relatives of patients with dominant HA, suggested a hereditary basis for Un. The ratios were not compatible with simple Mendelism, but the observations fitted well with a hypothesis of polygenic inheritance. Un clustering in families with autosomal dominant HA could be due to a selection phenomenon through a negative assortative mating. Un cases observed in families with recessive HA may, in several instances, reflect disease manifestations in heterozygotes.

Adult↗
PubMed1975

Friedreich's ataxia in Western Norway.

Friedreich's ataxia (FA) was investigated in Western Norway, an area comprising several isolated communities and with a population of 725,000 as at 1 January 1968. The prevalence of FA was estimated to be 1/100,000 in this population. An autosomal recessive mode of transmission appeared likely in all instances. The gene frequency was only 7-9.10 minus 5, but the consanguinity rate was high in the families observed. The mutation rate was relatively high at 1-6.10 minus 5. The clinical features displayed by the 10 examined patients agreed well with those observed by other investigators. Spinal and cerebellar ataxia dominated the clinical picture. In most cases signs of peripheral neuropathy were also observed. Epilepsy was seen in some cases, and also dementia. Unspecific neuropathy, defined according to a scoring system may represent disease manifestation in FA heterozygotes.

Chromosome Aberrations↗
PubMed1975

A study of certain traits accompanying some inherted neurological disorders.

Feeblemindedness, dementia, mental disorders, and epilepsy, as well as optic atrophy, tapeto-retinal degenerations, cataract, ophthalmoplegias, and neural hearing loss were found more frequently in patients suffering from hereditary ataxias (HA) and allied disorders than in the general population. Mental disorders and squints, and in certain instances also ocular myopathy, feeblemindedness, and cataract were found also in non-HA family members. These traits were particularly frequent in subjects with minor neurological signs previously defined as having an "unspecific neuropathy" (Un), and belonging to kindreds in which autosomal dominant HA segregated. Un clustering in such families is probably caused by other genetic (or other) mechanisms different from that governing the classical HA in the family. These presumably polygenic conditions are thought to be introduced into the HA kindreds by a negative selection. Optic atrophy, tapeto-retinal degenerations, surdity, epilepsy, and possibly also dementia, were found together with monomeric disease, as well as in the Un subjects, particularly in families with recessive HA. Such traits were equally rare in unaffected family members and controls. Un in such families as well as the traits mentioned may reflect manifestation of HA genes in heterozygotes. They could also reflect the presence of genes linked to the HA genes.

Adolescent↗
PubMedDate not supplied

Transient cerebral ischemic attacks in the young and middle aged. A population study.

During an investigation of coronary risk factors, a population 20 to 54 years old in Tromsø, Northern Norway was screened for transient ischemic cerebral attacks. Three simple screening questions were used. Sixteen thousand six hundred and twenty-one subjects participated in the study. Among the responders, a sample of 501 were evaluated neurologically and 10 men and 16 women identified as TIA cases. Mean age for men was 41.3 years, for women 33 years. Five women (mean age 24.4) had the events during pregnancy, pointing to pregnancy as a period of risk. Five-year incidence was found to be 2.5. per 1000. Clinical expressions and ratio carotid to vertebral-basilar TIA hardly differed from that found in materials of older patients. All 26 remained stroke-free during a mean observation period of 55 months. Known risk factors like hypertension, carotid stenosis and cardiac disease were found in only a few. Five women had low blood pressure. It is suggested that TIA in younger age groups may constitute a separate entity where, among other, haemodynamic factors and pregnancy play a role.

Adult↗