| 1. |
- 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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| 2. |
- 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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| 3. |
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| 4. |
- 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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| 5. |
- 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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| 6. |
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| 7. |
- Nygård, L, et al.
(författare)
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Comparing motor and process ability of persons with suspected dementia in home and clinic settings
- 1994
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Ingår i: American Journal of Occupational Therapy. - 0272-9490 .- 1943-7676. ; 48:8, s. 689-96
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: Evaluating functional level of persons with diagnosed or suspected dementia is an important part of occupational therapy. The importance of the environment is often highlighted. We investigated the ability of clients with suspected dementia to perform instrumental activities of daily living (IADLs) in the clinic versus in their homes.METHOD: We used the Assessment of Motor and Process Skills (AMPS) to measure the motor and process skill ability of 19 clients with suspected dementia.RESULTS: Using two-tailed paired t-tests, we found no overall difference in IADL motor or process performance between the clinic and home setting. However, of the 19 clients, 6 had motor ability measures, whereas 5 had process ability measures that differed significantly between the two settings.CONCLUSION: The results suggest that if we want to know how a person with suspected dementia performs in IADLs in a specific environment we should test him or her in that environment.
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