RESUMO
Eleven families including 35 cases with fra(X) mental retardation (MR) were traced genealogically using the Research Archives at Umeå University. Seven of the cases were women with fra(X). All of the families originated partly or totally from the county of Västerbotten. It was possible to link 7 of the index families to common ancestors over an 8-11 generation span. The remaining 4 families were not traced to the same ancestors. However, they were linked together pair-wise over a 7-8 generation span. Transmission of the fra(X) mutation was studied in these families. In the pedigree analyses, priority was given to maternal transmission. In 2 families the fra(X) mutation was transmitted solely through females over 7 or 8 generations respectively. Within 9 families the mutation was transmitted by males in 2-5 generations in order to reach common ancestors.
Assuntos
Síndrome do Cromossomo X Frágil/genética , Aberrações dos Cromossomos Sexuais/genética , Feminino , Síndrome do Cromossomo X Frágil/história , História do Século XVIII , História do Século XIX , História do Século XX , Humanos , Masculino , Linhagem , SuéciaRESUMO
Most studies of fragile X [fra(X)] families are able to document mental impairment only by family history. Using Swedish historical archives and the unique parish catechetical meeting records it is possible to document qualitative phenomena such as literacy for over 100 years. In this way it was possible to identify 7 individuals with mental retardation living in the nineteenth century in an earlier published fra(X) pedigree. Four of them were female. At the present time another 4 severely mentally retarded females with the fra(X) syndrome have been diagnosed in this family. The high prevalence of mentally retarded females might indicate a variant form of the fra(X) syndrome in this family.
Assuntos
Síndrome do Cromossomo X Frágil/história , Estudos Transversais , Feminino , Síndrome do Cromossomo X Frágil/genética , Genealogia e Heráldica , Genes Dominantes , História do Século XIX , História do Século XX , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/história , Masculino , Linhagem , Fatores Sexuais , Suécia/epidemiologiaAssuntos
Distonia Muscular Deformante/genética , Genes Dominantes , Adolescente , Adulto , Blefarospasmo/etiologia , Distonia Muscular Deformante/classificação , Distonia Muscular Deformante/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Suécia , Torcicolo/etiologiaRESUMO
Finnish hereditary amyloidosis-Meretoja (FAP type 4) is the predominating type of hereditary amyloidosis in the Finnish population, found in more than 200 individuals. We present a Finnish family with familial amyloidotic polyneuropathy (FAP Met30), a type of amyloidosis hitherto not described in the Finnish population. Genealogical tracing back to the 18th century revealed no connections with Swedish FAP families, but introduction from Sweden is the most probable origin of the FAP Met30 gene.
Assuntos
Amiloidose/genética , Neuropatias Hereditárias Sensoriais e Autônomas/genética , Idoso , Finlândia/epidemiologia , Humanos , Masculino , Mutação/genética , Linhagem , Reação em Cadeia da PolimeraseRESUMO
Extended genealogical studies stretching back to the 17th century were performed concerning the heredity patterns of vitreous involvement in Swedish patients with familial amyloidotic polyneuropathy (FAP). FAP is an autosomal dominant inherited disorder, characterized by extracellular deposition of amyloid and a clinical syndrome of peripheral and autonomic neuropathy. In addition, some patients show typical vitreous opacities. All patients had their origin in a restricted geographical area. Some main patterns arose from this study: 1) Patients who had vitreous opacities as the first symptom of FAP seem to form a separate group, with a distinct age of onset distribution; 2) The familial occurrence of vitreous opacities raises the possibility that other familial factors modify the expression of the FAP gene; 3) The mean age of onset for vitreous opacities is lower for homozygous than for heterozygous patients.
Assuntos
Amiloidose/patologia , Neuropatias Hereditárias Sensoriais e Autônomas/patologia , Corpo Vítreo/patologia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Amiloidose/epidemiologia , Amiloidose/genética , Análise por Conglomerados , Oftalmopatias/epidemiologia , Oftalmopatias/genética , Oftalmopatias/patologia , Feminino , Neuropatias Hereditárias Sensoriais e Autônomas/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Polimorfismo de Fragmento de Restrição , Pré-Albumina/genética , Pré-Albumina/metabolismo , Suécia/epidemiologiaRESUMO
Four Swedish families in northern Sweden with polycystic lipomembranous osteodysplasia (PLO-SL) were studied genealogically. Historical and genealogical date provided evidence for a Finnish origin. Both parents of two of the families could be traced back to Finnish ancestors, and the other two families had a common origin in a region with a known Finnish influence, but without evidence for Finnish ancestry. PLO-SL is the first rare monogenic disease with an autosomal recessive inheritance in Sweden with a probable Finnish origin.
Assuntos
Doenças Ósseas/genética , Feminino , Finlândia , Humanos , Masculino , Linhagem , SuéciaRESUMO
Pregnancy outcome was investigated in 32 women with clinically obvious myotonic dystrophy. The results indicated that there are two groups of women, those whose children have the adult type of myotonic dystrophy and those whose children have the congenital type. The overall perinatal mortality was 14%. Polyhydramnios was an obvious sign of the congenital type. No subclinical gene carrier was found among the children. We conclude that prenatal diagnosis should be offered to women with myotonic dystrophy, particularly to those who have previously given birth to a child with the congenital type.
Assuntos
Distrofia Miotônica/genética , Distrofia Miotônica/fisiopatologia , Complicações na Gravidez/fisiopatologia , Resultado da Gravidez , Proteínas Quinases/genética , Sequências Repetitivas de Ácido Nucleico/genética , Cromossomos Humanos Par 19 , Feminino , Humanos , Poli-Hidrâmnios/etiologia , Gravidez , Diagnóstico Pré-NatalRESUMO
Extended genealogical studies were performed on the heredity patterns in Swedish patients with familial amyloidotic polyneuropathy (FAP) using Swedish historical archives. The population studied included 239 patients: 109 patients were linked to five large pedigrees and 80 patients belonged to 30 smaller pedigrees or nuclear families. In the remaining 50 cases, no genealogical links were found. Differences in mean ages of onset between the different pedigrees were found, although a considerable variation within the pedigrees was also present. There was a tendency for later ages of onset among older generations than younger ones: descendants of affected mothers seem to be more prone to anticipation in age of onset than descendants of affected fathers. Furthermore, there seems to be a tendency for earlier ages of onset among patients with a carrier mother than a carrier father. Some extended pedigrees, from the Skellefteå and Piteå areas, are presented in detail. The former go back into the middle of the 17th century. One important conclusion is that the mutational event may have occurred in late mediaeval times.
Assuntos
Amiloidose/genética , Doenças do Sistema Nervoso/genética , Adulto , Fatores Etários , Idoso , Análise de Variância , Feminino , Triagem de Portadores Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Estudos Retrospectivos , SuéciaRESUMO
Alcohol-responsive myoclonic dystonia is reported in 26 individuals in a six-generation family, thus indicating autosomal dominant inheritance. Twenty affected family members aged between 3 and 56 years were examined on one occasion. Myoclonus in arms, shoulder, and neck distribution was seen in 17, with occasional generalized jerks in 14. Leg dystonia/hemidystonia was seen in two infant cases, writer's cramp in seven, torticollis/retrocollis in two, and finger tremor in three. The onset of myoclonus was regularly reported from 2 to 3 years of age, the onset of leg dystonia/hemidystonia from 6 to 18 months of age, writer's cramp from early school age, and neck dystonia from late teenage. The effect of alcohol had been noted in 10 individuals, and seven of them abused alcohol. Once established, the neurological signs did not progress significantly. Leg dystonia resolved in two juvenile members. Two adult members had recovered from myoclonus: one elderly man and one posthemorrhagic spastic hemiplegic man. Extensive family investigation is necessary to clarify the clinical variation of this autosomal dominant disorder of involuntary movements.
Assuntos
Consumo de Bebidas Alcoólicas/genética , Distonia/genética , Genes Dominantes/genética , Variação Genética/genética , Mioclonia/genética , Fenótipo , Adolescente , Adulto , Idoso , Alcoolismo/genética , Criança , Pré-Escolar , Distonia/tratamento farmacológico , Etanol/administração & dosagem , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mioclonia/tratamento farmacológico , Exame Neurológico , LinhagemRESUMO
A small rural district in the most northerly province of Sweden was found to have a very high occurrence of multiple sclerosis. A total of 12 patients with multiple sclerosis among 4744 inhabitants were identified (five females, seven males), corresponding to a prevalence of 253/100,000. Many of the patients were related and a further 21 cases with multiple sclerosis (14 females, seven males), mostly living in the neighbouring area, have family ties to the district. A genealogical investigation showed that 22 of the 33 patients identified had ties of kinship and thus, to our knowledge, the largest aggregation of multiple sclerosis in a family is presented.
Assuntos
Esclerose Múltipla/genética , Adolescente , Adulto , Idoso , Criança , Análise por Conglomerados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/epidemiologia , Linhagem , Suécia/epidemiologiaRESUMO
A hereditary myopathy with lactic acidosis during physical exercise, low physical work capacity, and paroxysmal myoglobinuria (HML), called "Myopathy with deficiency of succinate dehydrogenase and aconitase" (McKusick 255125) has been described in 19 members of nine families who lived in two geographically separate areas in northern Sweden. By using the unique Swedish historical archives, including Catechetical Meeting Records from a number of northern Swedish parishes, it has been possible to trace ancestors of the nine families including all known 19 cases back in time to some key couples, who lived up to 300 years ago (that is seven to ten generations). No common single couple or common links between families in the past was found in these registers as a support for a single or several mutations that had developed far back in time. The mode of inheritance in this family is most likely autosomal recessive. This material will be used for the chromosomal localisation of the gene.
Assuntos
Acidose Láctica/genética , Aconitato Hidratase/deficiência , Miopatias Mitocondriais/genética , Succinato Desidrogenase/deficiência , Aconitato Hidratase/genética , Adolescente , Feminino , Genes Recessivos , Ligação Genética/genética , Humanos , Escore Lod , Masculino , Linhagem , Succinato Desidrogenase/genética , SuéciaRESUMO
Familial amyloidotic polyneuropathy (FAP) in Swedish patients is associated with the same transthyretin mutation (TTRMet30) as in Portuguese, Japanese, Brazilian and Majorcan patients. Yet, the age of onset of FAP is much later in Sweden than in other populations. We have studied 239 cases of FAP from northern Sweden, their geographical distribution, differences in age of onset, and estimated prevalence and incidence rates. Cases and families concentrate mainly in two areas, around the towns of Skellefteå and Piteå. Mean age of onset was found to be later in the Piteå (58.8 +/- 10.8) than in the Skellefteå area (54.4 +/- 13.5). Unusually high figures were found for prevalence rates (91 x 10(-5) and 104 x 10(-5), respectively) in 1985. Mean yearly incidences were 3.1 x 10(-5) and 4.4 x 10(-5), respectively, over the period 1985-1989.
Assuntos
Neuropatias Amiloides/epidemiologia , Neuropatias Amiloides/genética , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prevalência , Suécia/epidemiologiaRESUMO
Familial amyloidotic polyneuropathy (FAP) with a mutation in position 30 of transthyretin (TTR) (previously called prealbumin) is an autosomal dominant inherited disorder characterized by varying degrees of peripheral neuropathy, nephropathy, gastrointestinal problems, and vitreous amyloid. We have earlier diagnosed homozygosity for the TTR-Met30-gene using Southern analysis in four Swedish individuals. We have found it possible to detect homozygosity for the Met-30 mutation by amplifying discrete regions of the TTR-gene using polymerase chain reaction (PCR), and the amplification products restricted with NsiI analysed by gel electrophoresis. Clinical data on seven homozygous individuals, including three new cases, are presented.
Assuntos
Amiloidose/genética , Neuropatia Hereditária Motora e Sensorial/genética , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Pré-Albumina/genética , Idoso , Feminino , Gastroenteropatias/genética , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , SíndromeRESUMO
A gene (DYT1) for susceptibility to early-onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32-q34 in a 6-7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myoclonic jerks responsive to alcohol was consistent with a gene in this region, we studied the 37 members of a Swedish family, of whom 20 were so affected. A lod score of < -2.00 from a two-point linkage analysis with six DNA markers covering a 30 cM span from D9S26 to D9S10 that included the region of the DYT gene indicated that this gene is not located in this region, and that two or more autosomal loci are responsible for hereditary dystonia in humans.
Assuntos
Cromossomos Humanos Par 9 , Distonia Muscular Deformante/genética , Epilepsias Mioclônicas/genética , Álcoois/uso terapêutico , Epilepsias Mioclônicas/tratamento farmacológico , Feminino , Ligação Genética , Humanos , Masculino , LinhagemRESUMO
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.