| 1. |
- Holmgren, G, et al.
(författare)
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Linkage of G8 (D4S10) in two Swedish families with Huntington's disease.
- 1987
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Ingår i: Clinical Genetics. - 0009-9163 .- 1399-0004. ; 32:5, s. 289-94
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Tidskriftsartikel (refereegranskat)abstract
- Two Swedish families with Huntington's disease (HD) have been investigated for linkage with G8 (D4S10). In one family from northern Sweden (Family 1) 48 family members were examined, and in another family from the southwestern part of Sweden (Family 2) 14 family members were examined. The lod scores were 1.531 for Family 1 and 2.057 for Family 2, and the combined lod score was 3.59. The HD gene was segregating with the haplotype C in Family 1 and with haplotype A in Family 2. The predictive value of the test was obvious. Before the testing with the G8 probe, 84.2% of the family members in Family 1 had a theoretical risk of 25% or 50% of having the HD gene. After the testing with the G8 probe, only 23.7% of the family members remained at the same risk, and it could also be certified that 63.2% had no or little risk of having the HD gene. Only one asymptomatic person was predicted to have HD.
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| 2. |
- Wahlin, T B, et al.
(författare)
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Reactions to predictive testing in Huntington disease : case reports of coping with a new genetic status.
- 1997
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Ingår i: American Journal of Medical Genetics. - 0148-7299 .- 1096-8628. ; 73:3, s. 356-65
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Tidskriftsartikel (refereegranskat)abstract
- A predictive testing program for Huntington disease has been available in Stockholm, Sweden since October 1990. Psychosocial assessments were performed throughout the testing program to evaluate the impact of the risk situation itself and the effect of predictive testing, and to identify those individuals who were most vulnerable to severe stress and anxiety reactions. All subjects underwent neurological, neuropsychological, and psychiatric examinations. Individuals undergoing predictive testing were assessed twice by a genetic counsellor before receiving their results, and at 10 days (gene carriers only) and then 2, 6, 12, and 24 months after receiving the results. The process of coping with the test results and the psychological adjustment to knowledge about new genetic status have been shown to vary considerably. In this report, we describe the results obtained from two gene carriers and two noncarriers. The four persons chosen represent different ways of coping with the outcome of the test and of integrating knowledge about their genetic status into everyday life. These cases illustrate common themes and recurrent problems often surfacing during the counselling and testing process. The longitudinal evaluations provide information about the impact, adaptation, and long-term effects of living with a new genetic status.
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| 3. |
- Alafuzoff, I, et al.
(författare)
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A comparison of multiplex and simplex families with Alzheimer's disease/senile dementia of Alzheimer type within a well defined population.
- 1994
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Ingår i: Journal of neural transmission. Parkinson's disease and dementia section. - 0936-3076. ; 7:1, s. 61-72
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Tidskriftsartikel (refereegranskat)abstract
- A study was made on 150 clinically demented patients presenting at autopsy at Umeå University Hospital in Sweden. In 90 of the cases dementia was considered to be primary in nature and of these forty six per cent (41 cases), fulfilled both the clinical and histopathological criteria for the diagnosis of Alzheimer's disease/Senile dementia of Alzheimer type (AD/SDAT). The families of these 41 AD/SDAT cases were then studied, and a family history obtained through interviews with multiple family informants and from civil and medical records. Additional diseased family members suffering from progressive dementia (multiplex families) were observed in 12 probands out of 41 (29%). Multiplex families exhibited similar clinical and histopathological characteristics as simplex families containing a single affected individual. The secondary cases in the multiplex families exhibited similar demographic and clinical characteristics as the probands. 39% of the multiplex and 14% of the simplex cases had an early age of onset of the disease, that was under 65 years. The overall prevalence of progressive dementia disorders in the 41 families was 5.9%. The prevalence of a progressive dementia disorder was 11% in the multiplex families (14% for the early onset cases) and 3.5% in the simplex families (2% for the early onset cases). The prevalence of progressive dementia disorder for family members who had passed the mean age of the onset of the disease for their family, was 45% for multiplex and 18% for simplex families. Furthermore the incidence rate for dementia was significantly higher (p < 0.005) in multiplex families (5.5 per 1,000 person years) when compared to simplex families (2.5 per 1,000 person years). No differences could be seen in parental age at birth of the diseased when comparing the two sets of families. However in multiplex families the duration of the disease was significantly (p < 0.025) shorter, in subjects with parental age at birth over 35 years compared to those with a parental age under 35 years. The multiplex families contained significantly (p < 0.025) larger sibships; and showed a significantly lower age of onset for the disease (p < 0.001), and a significantly longer duration of disease (p < 0.05) compared to the simplex families. A significant intra familial correlation of age at disease onset was observed in both sets of the families.
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| 4. |
- Almqvist, E, et al.
(författare)
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Geographical distribution of haplotypes in Swedish families with Huntington's disease.
- 1994
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Ingår i: Human Genetics. - 0340-6717 .- 1432-1203. ; 94:2, s. 124-8
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Tidskriftsartikel (refereegranskat)abstract
- This study was planned to determine the number of origins of the mutation underlying Huntington's disease (HD) in Sweden. Haplotypes were constructed for 23 different HD families, using six different polymorphisms [(CCG)n, GT70, 674, BS1, E2 and 4.2], including two within the gene. In addition, extensive genealogical investigations were performed, and the geographical origin of the haplotypes was studied. Ten different haplotypes were observed suggesting multiple origins for the HD mutation in Sweden. Analysis of the two polymorphic markers within the HD gene (the CCG repeat and GT70) indicates that there are at least three origins for the HD mutation in Sweden. One of these haplotypes (7/A) accounts for 89% of the families, suggesting that the majority of the Swedish HD families are related through a single HD mutation of ancient origin. Furthermore, three of the families that were previously considered to be unrelated could be traced to a common ancestor in the 15th century, a finding that is consistent with this hypothesis.
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| 5. |
- Almqvist, E, et al.
(författare)
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Screening of amyloid precursor protein gene mutation (APP 717 Val-->Ile) in Swedish families with Alzheimer's disease.
- 1993
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Ingår i: Journal of neural transmission. Parkinson's disease and dementia section. - 0936-3076. ; 6:2, s. 151-6
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Tidskriftsartikel (refereegranskat)abstract
- Screening for the APP 717 Val-->Ile mutation in the amyloid precursor protein (APP) gene in 34 Swedish families with familial Alzheimer's disease (FAD), 16 sporadic cases of Alzheimer's disease and five patients with Down's syndrome (DS) failed to identify further cases of the mutation. These results suggests that the mutation is rare among Swedish families with Alzheimer's disease. In addition, we summarize present reports of the frequency of the mutation.
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| 6. |
- Hansebo, Görel, et al.
(författare)
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Staff views on the Resident Assessment Instrument, RAI/MDS, in nursing homes, and the use of the Cognitive Performance Scale, CPS, in different levels of care in Stockholm, Sweden.
- 1998
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Ingår i: Journal of Advanced Nursing. - : Wiley. - 0309-2402 .- 1365-2648. ; 28:3, s. 642-53
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Tidskriftsartikel (refereegranskat)abstract
- Multidimensional functional assessment is the basis of individualized care. It is especially important in the care of elderly, with the complexity of symptomatology and often with cognitive impairment present. An assessment instrument for elderly persons, used in this study, is the Resident Assessment Instrument/Minimum Data Set (RAI/MDS) and its incorporated MDS Cognitive Performance Scale (CPS). The purposes of the study were to demonstrate the cognitive performance in elderly persons in different levels of care by using the CPS and to elicit the views of staff on use of the RAI/MDS. Cognitive impairment was found in 1276 elderly persons in six levels of care studied, an important factor to consider when organizing care of elderly. An intervention study was carried out for 1 year in three nursing home wards, with training and supervision in implementation of the RAI/MDS including individualized and documented care. Part of a questionnaire was used to evaluate staff (n = 50) views on using the instrument. A majority of the staff thought that the RAI/MDS could contribute to the improvement of quality of care, documentation in nursing records, and in co-operation and engagement. Further research is necessary to elicit more knowledge on the usefulness and benefits of the instrument.
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| 7. |
- Lannfelt, L, et al.
(författare)
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Low frequency of the APP 670/671 mutation in familial Alzheimer's disease in Sweden.
- 1993
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Ingår i: Neuroscience Letters. - 0304-3940 .- 1872-7972. ; 153:1, s. 85-7
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Tidskriftsartikel (refereegranskat)abstract
- Molecular genetic studies have identified disease-causing mutations at codon 717 of the amyloid protein precursor gene in families with early-onset Alzheimer's disease. Recently, we reported a new mutation at codon 670/671 in a large Swedish family with Alzheimer's disease. The mutation results in two amino acid changes at the N-terminal of the beta-amyloid region. In the present study, we screened for the APP 670/671 mutation in sufferers from 31 other Swedish families with Alzheimer's disease using PCR and restriction enzyme digestion. The mutation was found only in the family previously reported and not in any other family. It is concluded that this mutation is a rare cause of familial Alzheimer's disease in Sweden.
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