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  • 1
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    Keywords: FOLLOW-UP ; follow-up studies ; DISEASE ; HISTORY ; incidence ; occupation ; POPULATION ; RISK ; RISKS ; FAMILY ; AGE ; WOMEN ; genetics ; MEN ; SWEDEN ; REGION ; familial risk ; SPOUSES ; heredity ; RELATIVES ; HOSPITALIZATION ; CHILDHOOD ; AGGREGATION ; FAMILIES ; familial aggregation ; SIZE ; TWINS ; EVENTS ; ONSET ; INCREASED RISK ; COMMUNITY ; PROBAND ; CHILD ; ENVIRONMENTAL-FACTORS ; EARLY-ONSET ; familial Parkinson's disease ; MAYO-CLINIC FAMILY ; Parkinson's disease ; patient admission ; recessive genetic conditions
    Abstract: The aim of this study was to estimate familial risks of Parkinson's disease (PD) in first-degree relatives of probands with PD compared with first-degree relatives of control probands. Standardized incidence ratios (SIRs) of PD were estimated in the total Swedish population for the period January 1, 1987 to December 31, 2001. SIRs were calculated by age, sex, occupation, geographic region, family size, and type of related proband on the basis of first hospital diagnoses of PD during the study period. Results showed that during the study period, there were 65 cases of first-degree relatives who were hospitalized for PD out of the total 13,276 events (first hospital diagnoses of PD) between 1987 and 2001. Age-specific analyses of familial PD revealed that there was no apparent difference in SIRs by age category. Overall, significant SIRs for PD in first-degree relatives were 3.1 (95% CI 2.1-4.3) for men and 4.0 (95% CI 2.8-5.7) for women. When the related PD proband was a sibling, the SIR was significantly higher (8.7) than when the related proband was a parent (SIR=2.9, p=0.01) or a child (SIR=3.6, p=0.04). For spouses, no increased risks were found. In conclusion, the findings of the present study suggest that genetic factors are important in early- (age 〈= 50 years) and later (age 〉 50 years) onset PD, and that shared environmental factors during childhood or recessive effects may partly be important for familial aggregation of the disease
    Type of Publication: Journal article published
    PubMed ID: 16944085
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  • 3
    Keywords: CANCER ; Germany ; DISEASE ; DISEASES ; POPULATION ; RISK ; GENE ; PATIENT ; COMPLEX ; FAMILY ; AUTOIMMUNE-DISEASE ; MEMBERS ; IDENTIFICATION ; genetics ; SWEDEN ; familial risk ; CLUES ; MULTIPLE-SCLEROSIS ; GENETIC EPIDEMIOLOGY ; sibling risk ; FAMILIES ; AUTOIMMUNE-DISEASES ; MS ; TWINS ; multiple sclerosis ; 1ST-DEGREE RELATIVES ; FAMILIAL RISKS ; amyotrophic lateral sclerosis ; disease genes ; 33 ; PARENTS ; HOSPITALIZATIONS
    Abstract: In the era of complex disease genetics, the consideration of familial risks is important in the assessment of the likely success of these studies. In the present article, we study familial risks for multiple sclerosis (MS) among parents and offspring, singleton siblings, twins, and spouses when a family member was diagnosed with MS or any of 33 other autoimmune diseases. The availability of a Multigeneration Register in Sweden provides a reliable access to families throughout the last century. The diseases in individual family members were obtained through linkage to the Hospital Discharge Register. With a total patient population of 425,102 of whom 11,154 were diagnosed with MS, this is the largest population-based family study on these diseases to date. Standardized incidence ratio (SIR) was calculated for family member of MS patients compared to those lacking an affected family member. SIR for MS was 5.94 (6.12 when parents were aged 〈 73 years) in offspring of affected parents, 6.25 in singleton siblings, 9.09 in twins, and 1.50 (nonsignificant) in spouses; the SIRs did not depend on the gender. The SIRs for MS were 1.84 when a parent was diagnosed with amyotrophic lateral sclerosis and 1.14 with parental asthma. The overall risk of MS was 1.21 when a parent was diagnosed with any autoimmune disease. The genes, so far associated with MS, explain little of the familial aggregation of MS, calling for further efforts in gene identification. The shared familial risks of MS with amyotrophic lateral sclerosis and asthma suggest shared genetic basis
    Type of Publication: Journal article published
    PubMed ID: 18843511
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  • 4
    Keywords: CANCER ; Germany ; COMMON ; DISEASE ; DISEASES ; EPIDEMIOLOGY ; POPULATION ; RISK ; RISKS ; PATIENT ; FAMILY ; AUTOIMMUNE-DISEASE ; MEMBERS ; ASSOCIATION ; SUSCEPTIBILITY ; genetics ; SWEDEN ; HIGH-RISK ; familial risk ; CLUES ; MULTIPLE-SCLEROSIS ; ULCERATIVE-COLITIS ; sibling risk ; SIBLINGS ; FAMILIES ; AUTOIMMUNE-DISEASES ; multiple sclerosis ; recessive effects ; USA ; FAMILIAL RISKS ; amyotrophic lateral sclerosis ; disease genes ; 33 ; GENE IDENTIFICATION ; PARENTS ; HOSPITALIZATIONS ; Environmental sharing
    Abstract: Population-level familial risks are not available for amyotrophic lateral sclerosis (ALS), and a few studies have analyzed familial association of ALS with other diseases. We used the Swedish Multigeneration Register to identify family members and link them to the Hospital Discharge Register to calculate standardized incidence ratios (SIRs) for familial association in ALS and 33 autoimmune diseases. Among 4,970 ALS patients, familial SIR for offspring of affected parents was 4.71, for singleton siblings, it was 29.83, and for members of multiplex families, it was 1,100; 1.1% of the offspring had an affected parent, and 2.2% an affected sibling. The high risks among siblings without affected parents may suggest recessive inheritance. The SIR for spouse correlation for ALS was 2.35 which may imply the influence of yet unknown environmental factors in ALS susceptibility. ALS associated with Behcet disease, multiple sclerosis, ulcerative colitis, and Wegener granulomatosis; however, chance associations cannot be excluded. In this first population level family study on ALS and 33 autoimmune and related conditions, we found high familial risks depending on the proband. These findings should guide future genomic studies. The high spouse correlation will be a challenge to environmental epidemiology of ALS
    Type of Publication: Journal article published
    PubMed ID: 19089474
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  • 5
    Abstract: Glycogen storage disease type II (GSDII, Pompe's disease) is an autosomal recessive inherited deficiency of lysosomal alpha-glucosidase (GAA). Clinical as well as biochemical and allelic heterogeneity have been described in GSDII. We identified mutations within the GAA gene in seven unrelated German patients, six with adult- and one with juvenile-onset GSDII. Beside previously described mutations [IVS1 (-13T --〉 G), delta(exon) 18, C1634T], we characterized four new mutations of GSDII: IVS6 (-22T --〉 G), 271delG, G1912T (Gly638Trp), and 2432insC. The IVS6 (-22T --〉 G) mutation gives rise to aberrant splicing, causing inframe deletions of 25 or 40 amino acids within the GAA coding sequence and the insertion of a sequence of seven missense amino acids. Two affected siblings and an unrelated patient with adult GSDII are apparently homozygous for the exon 18 deletion. Both siblings are also heteroallelic for IVS1 (-13T --〉 G). In conclusion, we observed pronounced allelic heterogeneity and an unexpectedly high frequency of homozygosity for larger in-frame deletions within the GAA coding sequence in German adult-onset GSDII patients.
    Type of Publication: Journal article published
    PubMed ID: 10737124
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  • 6
    Keywords: CANCER ; Germany ; RISK ; RISKS ; SWEDEN ; TWIN ; familial risk ; TYPE-2 ; sibling risks ; RE ; heritability ; familial aggregation ; AURA ; DANISH POPULATION ; GENETIC-FACTOR ; HEMIPLEGIC MIGRAINE ; national database
    Type of Publication: Journal article published
    PubMed ID: 16235063
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  • 7
    Keywords: SPECTRA ; GROWTH ; tumor ; COMMON ; SUPPORT ; DISEASE ; GENE ; TUMORS ; PATIENT ; COMPLEX ; COMPLEXES ; MECHANISM ; recombination ; mechanisms ; TYPE-1 ; DISORDER ; FORM ; HUMANS ; MUTATION ; genetics ; loss of heterozygosity ; MUTATIONS ; BENIGN ; GERMLINE ; CLINICAL-FEATURES ; TP53 ; FEATURES ; ADULT ; VARIANT ; Male ; CHILD ; Middle Aged ; Genes,p53 ; SOMATIC MUTATIONS ; Child,Preschool ; neurofibromatosis ; UK ; Genetic ; LOSS-OF-HETEROZYGOSITY ; Young Adult ; DNA Mutational Analysis ; Base Sequence ; Adolescent ; Molecular Sequence Data ; *Germ-Line Mutation ; *Neurofibroma/genetics/pathology ; *Neurofibromatosis 1/genetics/pathology ; *Spinal Neoplasms/genetics/pathology
    Abstract: Neurofibromatosis type 1 (NF1) is a common inherited complex multi-system disorder associated with the growth of various benign and malignant tumors. About 40% of NF1 patients develop spinal tumors, of whom some have familial spinal neurofibromatosis (FSNF), a variant form of NF1 in which patients present with multiple bilateral spinal tumors but have few other clinical features of the disease. We have studied 22 spinal neurofibromas derived from 14 unrelated NF1 patients. Seven of these patients satisfied the diagnostic criteria of NF1 while the remaining seven had only few features of NF1. The latter group defined as FSNF harbored significantly higher number of missense or missense and splice-site germline mutations compared to the group with classical NF1. This is the first study to describe NF1 somatic mutations in spinal neurofibromas. Loss-of-heterozygosity (LOH) was identified in 8/22 of the spinal tumors, 75% of LOH observed was found to result from mitotic recombination, suggesting that this may represent a frequent mutational mechanisms in these benign tumors. No evidence for LOH of the TP53 gene was found in these tumors.
    Type of Publication: Journal article published
    PubMed ID: 19221814
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  • 8
    Keywords: EXPRESSION ; proliferation ; PATHWAY ; DISEASE ; GENE ; PROTEIN ; MUTATIONS ; ZEBRAFISH ; CCM1 ; CCM3 ; Cerebral cavernous malformation ; IN-FRAME DELETION ; PDCD10 ; PDK1
    Abstract: Mutations in CCM1, CCM2, or CCM3 lead to cerebral cavernous malformations, one of the most common hereditary vascular diseases of the brain. Endothelial cells within these lesions are the main disease compartments. Here, we show that adenoviral CCM3 expression inhibits endothelial cell migration, proliferation, and tube formation while downregulation of endogenous CCM3 results in increased formation of tube-like structures. Adenoviral CCM3 expression does not induce apoptosis under normal endothelial cell culture conditions but protects endothelial cells from staurosporine-induced cell death. Tyrosine kinase activity profiling suggests that CCM3 supports PDPK-1/Akt-mediated endothelial cell quiescence and survival.
    Type of Publication: Journal article published
    PubMed ID: 20862502
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Neurogenetics 1 (1997), S. 13-19 
    ISSN: 1364-6753
    Keywords: Keywords: Alzheimer's disease, oxidative phosphorylation, mitochondrial DNA, cytochrome c oxidase, glutamate neurotoxicity, β-amyloid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT Abnormalities in cellular bioenergetics have been identified in patients with Alzheimer's disease (AD) as well as in patients with other neurodegenerative diseases. The most commonly reported enzyme abnormalities are in the pyruvate dehydrogenase complex, the α-ketoglutarate dehydrogenase complex, and oxidative phosphorylation (OXPHOS). Although genetic evidence supporting primary OXPHOS defects as a cause for AD is weak, functionally important reductions in OXPHOS enzyme activities appear to occur in AD and may be related to β-amyloid accumulation or other neurodegenerative processes. Since reduced neuronal ATP may enhance susceptibility to glutamate toxicity, OXPHOS defects could play an important role in the pathophysiology of AD.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1364-6753
    Keywords: Keywords: limb-girdle muscular dystrophy, δ-sarcoglycan, sarcoglycan complex, immunofluorescence, dystrophin-associated, membrane cytoskeleton
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT The dystrophin-based membrane cytoskeleton of muscle fibers has emerged as a critical multiprotein complex which seems to impart structural integrity on the muscle fiber plasma membrane. Deficiency of dystrophin causes the most common types of muscular dystrophy, Duchenne and Becker muscular dystrophies. Muscular dystrophy patients showing normal dystrophin protein and gene analysis are generally isolated cases with a presumed autosomal recessive inheritance pattern (limb-girdle muscular dystrophy). Recently, linkage and candidate gene analyses have shown that some cases of limb-girdle muscular dystrophy can be caused by deficiency of other components of the dystrophin membrane cytoskeleton. The most recently identified component, δ-sarcoglycan deficiency occurred in other world populations, to identify the range of mutations and clinical phenotypes, and to test for the biochemical consequences of δ-sarcoglycan gene mutations, we studied Duchenne-like and limb-girdle muscular dystrophy patients who we had previously shown not to exhibit gene mutations of dystrophin, α-, β-, or γ-sarcoglycan for δ-sarcoglycan mutations (n = 54). We identified two American patients with novel nonsense mutations of δ-sarcoglycan (W30X, R165X). One was apparently homozygous, and we show likely consanguinity through homozygosity for 13 microsatellite loci covering a 38 cM region of chromosome 5. The second was heterozygous. Both were girls who showed clinical symptoms consistent with Duchenne muscular dystrophy in males. Our data shows that δ-sarcoglycan deficiency occurs in other world populations, and that most or all patients show a deficiency of the entire sarcoglycan complex, adding support to the hypothesis that these proteins function as a tetrameric unit.
    Type of Medium: Electronic Resource
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