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Biomedical subjects

A W Downie

Publications and source records attributed to A W Downie.

At least 19 recordsLinked to original sources
PubMed1990

Neurofibromatous neuropathy.

Three cases of chronic distal sensorimotor neuropathy are described in patients with neurofibromatosis. One had type 2 or central neurofibromatosis with a chromosome 22 deletion; the precise form of the disease was not established in the other two. A striking clinical feature was a diffuse nodular enlargement of the peripheral nerves. Nerve biopsies from all three cases demonstrated the presence of neurofibromatous pathology. Neurofibromatous neuropathy constitutes a rare manifestation of neurofibromatosis, related to diffuse neurofibromatous changes in the peripheral nerves.

Adult↗
PubMed1987

Multiple sclerosis in north-east Scotland. An association with HLA-DQw1.

This study reports the frequencies of HLA antigens and the polymorphic variants of C4, C2, and Bf for 200 patients with multiple sclerosis (MS) living in the Grampian region of Scotland, an area of high disease prevalence. A group of 128 normal subjects from the same region were typed for comparison. Although the frequencies of HLA-B7 and DR2 in the patient group (43.3% and 49.4%, respectively) were found to be similar to those reported for other Northern European HLA studies on patients with MS, high frequencies of these antigens were also observed in the group of normal Grampian subjects (38.3% and 40.6%) the differences were not statistically significant. However, a significant association was found between the recently defined Class II HLA antigen, DQw1, and MS (P less than 0.006) when compared with controls. There were no significant differences in frequency of the polymorphisms of C4, C2, and Bf when the group of patients with MS was compared with the control group of normal subjects. The patients were subdivided according to disease severity, remittent versus progressive clinical course, age of onset of the disease and initial symptoms. The frequencies of the HLA and complement polymorphisms (C4, C2, and Bf) were analysed in these subdivisions. DQw1 was found with similar frequency in severe and benign disease (78% and 80%, respectively) but DR2 was most frequent in the group of patients with remittent disease (54%). There were no significant differences in frequency of the polymorphisms of C4, C2, and Bf between the above subgroups of patients and overall no significant HLA associations were found with age of onset of disease or initial symptoms. The findings suggest that in an area of high prevalence of MS, the disease is more closely associated with DQw1 than DR2. Furthermore, there was no evidence to support the hypothesis that the HLA region complement gene polymorphisms show significant association with a putative HLA-linked MS susceptibility gene.

Complement C4↗
PubMed1987

Epidemiology of multiple sclerosis in the north-east (Grampian region) of Scotland--an update.

The north-east of Scotland (Grampian Region) has undergone three incidence and prevalence surveys, including the present one, since 1970. Results from these indicate a true increase in the prevalence of the disease in the region. The incidence of the disease has remained continuously high and shows a slightly upward trend. Literature on the subject of repeated surveys in different regions of the world has been reviewed in detail. The need for a prevalence study from the south of the British Isles has been emphasised in order to enable one to judge if the increase in Scotland is in keeping with the pattern in the whole of the British Isles. The familial incidence of the disease was noted to be virtually unchanged between the three surveys. Certain other aspects of aetiological significance have been analysed, viz, clustering of patients at birth or at onset of the disease; ages of occurrence of childhood viral infections such as measles, mumps, chickenpox and rubella; and the role of canine distemper infection.

Age Factors↗
PubMed1987

HLA genetic determinants in familial MS. A study from the Grampian region of Scotland.

Fourteen multiplex MS families, 9 single-case MS families and 11 normal families from the Grampian region of North-East Scotland were studied. The prevalence rate of MS for individuals in multiplex families was calculated at 809/100,000; 4.5 times the prevalence rate for the general population in this region. The distribution of shared haplotypes in 12 affected and 19 unaffected sib-pair comparisons did not differ significantly from that expected by chance. Furthermore there was no evidence that homozygosity of a particular HLA gene was required for increased susceptibility to the disease. HLA-B7, C4A3, C4B1, BfS, HLA-DR2, HLA-DQw1 was the commonest haplotype accounting for 18.9% and 24.2% of parental haplotypes from multiplex and single-case families, respectively, compared with 2.3% of parental haplotypes from control families (p less than 0.05 and p less than 0.01, respectively). No significant differences were observed in the frequencies of complement gene polymorphisms (Factor B and C4). The data suggests that a MS susceptibility gene exists, in the HLA complex, and is in closest linkage disequilibrium with the HLA-D region; although other factors, environmental and/or independent genetic loci, may have an important influence.

HLA Antigens↗
PubMed1986

Parkinson's disease: disability, review, and management.

Data from a descriptive study of idiopathic Parkinson's disease were analysed aimed at getting a clearer picture of the impact of the disease on the community and the help available to patients and carers. Altogether 267 patients aged 40-92 were identified, and the median duration of disease in those in whom this could be assessed was 7.2 years. Of the 267 patients, 204 (76.4%) were living in the community, 51 alone. A total of 201 patients were taking levodopa, 29 out of 102 had retired early, and 60 out of 84 (71.4%) had given up driving. Most patients had symptoms at the time of study, and signs such as bradykinesia, rigidity, impaired speech, and abnormal gait were often moderate or severe. Of 214 patients whose disease was assessed using the scoring system of Hoehn and Yahr, 78 (36.4%) had grade 4 and 23 (10.7%) grade 5 disability. Despite this, however, 105 of 265 patients (39.6%) were not subject to regular medical review and only 57 of 227 patients (25.1%) had been seen by an occupational therapist, 16 (7.0%) by a physiotherapist, and 10 (4.4%) by a speech therapist. Patients with Parkinson's disease may benefit from regular medical review and being seen by therapists.

Adult↗
PubMed1986

Parkinson's disease in a Scottish city.

In a detailed community study the total prevalence of idiopathic Parkinson's disease in Aberdeen was 164.2/10(5) of the population. The age and sex specific prevalence rose to 2657.8/10(5) (2.7%) of men and 2071.0/10(5) (2.0%) of women aged over 84. The mean age at onset, irrespective of sex, was 65.3 years (SD 12.6) and varied little compared with similar studies over the past 25 years. Half of patients were independent but 78/225 (34.7%) were considerably disabled and 23/225 (10.2%) were confined to bed or a wheelchair. Disability increased with age and also with a low minimental state questionnaire score. The score was less than or equal to 7/10 (graded 0-10) in 93/252 (37%) of patients and less than 5/10 in 28/252 (11%). Parkinson's disease remains a common and disabling condition in the community.

Adult↗
PubMed1986

Gm allotypes in multiple sclerosis: influence susceptibility in HLA-DQwl-positive patients from the North-East of Scotland.

From the Grampian region of Scotland, 198 patients with MS and 128 normal individuals were typed for allotypes of the Gm system which encode for the constant region of IgG heavy chains. No significant independent association between a given Gm allotype or phenotype and susceptibility to MS was observed for the group of patients from this region. This was also the case when patients were classified according to sex, clinical course, and disease progression. However, a significant association was found between the Gm phenotype, Gm (3;5, 10, 11, 13, 14), and HLA DQwl in patients with MS. The relative risk of developing MS for individuals who carried both Gm (3;5,10, 11,13,14) and HLA DQwl was nearly five times greater than for individuals with neither determinant. These findings suggest that in the presence of HLA DQwl, genes associated with the Gm (3;5,10,11,13,14) phenotype have an important contributory influence on susceptibility to MS. The additive effects of Gm and HLA on susceptibility to MS would be one possible reason for the lack of a complete association between MS and a single genetic locus.

Gene Frequency↗
PubMed1980

A further prevalence study of multiple sclerosis in north-east Scotland.

A second epidemiological study of multiple sclerosis (MS) in north-east Scotland has confirmed that the area has the highest prevalence rate in the world for any population of comparable size. On 1 December 1973 the prevalence was 144 per 100000 population. The age and sex specific prevalence rates are the highest ever recorded, one in every 306 of the population aged 40 to 59 years being affected. All patients have been tabulated in the National Health Service Central Register to facilitate future studies. The MS mortality rate in north-east Scotland is similar to the rate for the whole of Scotland. Throughout most of Scotland, therefore, MS probably is as prevalent as it is in the north-east.

Adolescent↗
PubMed1979

Tanapox. A serological survey of the lower Tana River Valley.

Sera collected from the indigenous population of the Tana River valley during the Tana River Expedition in 1976 were examined for neutralizing antibody to Tanapox virus. Antibody was found in 9.2% of the population in infected areas. This result and the presence of antibody in four children indicated that infection had continued to occur in the area since the 1962 outbreak.

Adult↗
PubMed1978

Prevalence of multiple sclerosis in north-east Scotland.

An epidemiological study of multiple sclerosis (MS) in north-east Scotland was carried out based on data correct on 1 December 1970. The prevalence of MS was 127 cases/100 000 population, which is greater than in any other surveyed area with a comparable population. The disease was not spread homogeneously within the region, and in one district one in 400 people was affected. The geographical distributions of MS and the presence of HLA antigens A3 and B7,which are associated with the disease, are remarkably similar, and the prevalence of B7 in north-east Scotland is higher than elsewhere. This may partly explain the high prevalence of MS in this area, but the essential additional environmental factor remains to be established.

Age Factors↗