当前位置： SCI文献检索 > JOURNAL OF MEDICAL GENETICS期刊下所有文献 > A genetic study of torsion dystonia.

A genetic study of torsion dystonia.

Abstract：

:A family study of 32 patients with torsion dystonia has shown at least two forms of generalized dystonia with onset in childhood. These two forms, an autosomal dominant and an autosomal recessive, are clinically indistinguishable. There were at least three families and probably about six to eight patients with the autosomal recessive variety. The remaining nine to 11 patients with generalized childhood dystonia are thought, because of a probable paternal age effect, to be examples of new dominant mutations. Since fitness with childhood onset is 1/20 of normal, most childhood dominant cases appear sporadically. Most of the other 15 patients (12 with onset in adult life) appear to have a non-genetic torsion dystonia, although an example of a benign adult-onset dominant form associated with a tremor has been observed. It is concluded that there are at least two forms of genetic torsion dystonia, an autosomal recessive form with onset in childhood, which, on evidence from America, is particularly common in Ashkenazi Jews, and one or more dominant forms, with onset in childhood or adult life. The majority of adult-onset isolated cases of idiopathic torsion dystonia seem to be due to exogenous but unidentified causes.

journal_name

J Med Genet

journal_title

Journal of medical genetics

authors

Bundey S,Harrison MJ,Marsden CD

doi

10.1136/jmg.12.1.12

keywords:

subject

Has Abstract

pub_date

1975-03-01 00:00:00

pages

12-9

issue

1

eissn

0022-2593

issn

1468-6244

journal_volume

12

pub_type

杂志文章

相关文献

JOURNAL OF MEDICAL GENETICS文献大全
  • Cleidocranial dysplasia: clinical and molecular genetics.

    abstract：:Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, ...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章,评审

    doi：

    authors： Mundlos S

    更新日期：1999-03-01 00:00:00

  • A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.

    abstract：BACKGROUND:Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients ...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.2006.044719

    authors： Antonio Casado J,Callén E,Jacome A,Río P,Castella M,Lobitz S,Ferro T,Muñoz A,Sevilla J,Cantalejo A,Cela E,Cervera J,Sánchez-Calero J,Badell I,Estella J,Dasí A,Olivé T,José Ortega J,Rodriguez-Villa A,Tapia M,Moliné

    更新日期：2007-04-01 00:00:00

  • Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls.

    abstract：:Mitochondria play a central role in the secretion of insulin by pancreatic beta-cells, and pathogenic mutations of mitochondrial DNA (mtDNA) can cause diabetes. The aetiology of type 2 diabetes has a strong genetic component, raising the possibility that genetic variants of mtDNA alter the risk of developing the disor...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.2007.048876

    authors： Chinnery PF,Mowbray C,Patel SK,Elson JL,Sampson M,Hitman GA,McCarthy MI,Hattersley AT,Walker M

    更新日期：2007-06-01 00:00:00

  • Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).

    abstract：:To define the PKD1 locus further, the gene involved in the most frequent form of adult polycystic kidney disease, probes from 16 polymorphic loci were mapped on 16p13.1-pter with the combined use of cell lines containing rearranged chromosomes and family studies. Five breakpoints in the distal part of 16p arbitrarily ...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.27.10.603

    authors： Breuning MH,Snijdewint FG,Brunner H,Verwest A,Ijdo JW,Saris JJ,Dauwerse JG,Blonden L,Keith T,Callen DF

    更新日期：1990-10-01 00:00:00

  • Fragile X syndrome: from molecular genetics to therapy.

    abstract：:Fragile X syndrome, the main cause of inherited mental retardation, is caused by transcriptional silencing of the fragile X mental retardation gene, FMR1. Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism. The core aim of this rev...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1136/jmg.2008.064667

    authors： D'Hulst C,Kooy RF

    更新日期：2009-09-01 00:00:00

  • Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.

    abstract：:Acute intermittent porphyria (AIP) is a primary disorder of haem biosynthesis that is chemically characterised by raised urinary porphobilinogen (PBG). A defect in the biochemical pathway at the step of PBG conversion to uroporphyrinogen has been shown to be a result of a partial deficiency of the enzyme uroporphyrino...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.16.2.134

    authors： Lamon JM,Frykholm BC,Tschudy DP

    更新日期：1979-04-01 00:00:00

  • C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

    abstract：BACKGROUND:Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features. OBJECTIVE:To identify an additional causative gene in Sensenbrenner syndrome. METHODS:Single nucleotide po...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.2011.088864

    authors： Arts HH,Bongers EM,Mans DA,van Beersum SE,Oud MM,Bolat E,Spruijt L,Cornelissen EA,Schuurs-Hoeijmakers JH,de Leeuw N,Cormier-Daire V,Brunner HG,Knoers NV,Roepman R

    更新日期：2011-06-01 00:00:00

  • Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

    abstract：BACKGROUND:Usher syndrome, a devastating recessive disorder which combines hearing loss with retinitis pigmentosa, is clinically and genetically heterogeneous. Usher syndrome type 1 (USH1) is the most severe form, characterised by profound congenital hearing loss and vestibular dysfunction. OBJECTIVE:To describe an ef...

    journal_title：Journal of medical genetics

    pub_type： 信件

    doi：10.1136/jmg.2006.041954

    authors： Roux AF,Faugère V,Le Guédard S,Pallares-Ruiz N,Vielle A,Chambert S,Marlin S,Hamel C,Gilbert B,Malcolm S,Claustres M,French Usher Syndrome Collaboration.

    更新日期：2006-09-01 00:00:00

  • Mutation analysis of 184 cystic fibrosis families in Wales.

    abstract：:We describe a molecular analysis of 184 cystic fibrosis (CF) families in Wales. To determine accurate frequency data for the CF mutations in the Welsh population, families with at least three Welsh grandparents were strictly regarded as Welsh. Of these 74 families, we have identified approximately 90% of mutations cau...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.29.9.642

    authors： Cheadle J,Myring J,al-Jader L,Meredith L

    更新日期：1992-09-01 00:00:00

  • Over-representation of PPARgamma sequence variants in sporadic cases of glioblastoma multiforme: preliminary evidence for common low penetrance modifiers for brain tumour risk in the general population.

    abstract：:PPARgamma, the gamma isoform of a family of peroxisome proliferator activated receptors, plays a key role in adipocyte differentiation. Recently, its broad expression in multiple tissues and several epithelial cancers has been shown. Further, somatic loss of function mutations in PPARgamma have been found in primary c...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.37.6.410

    authors： Zhou XP,Smith WM,Gimm O,Mueller E,Gao X,Sarraf P,Prior TW,Plass C,von Deimling A,Black PM,Yates AJ,Eng C

    更新日期：2000-06-01 00:00:00

  • An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.

    abstract：:We present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.32.12.942

    authors： Varley JM,McGown G,Thorncroft M,Tricker KJ,Teare MD,Santibanez-Koref MF,Martin J,Birch JM,Evans DG

    更新日期：1995-12-01 00:00:00

  • Linkage of rheumatoid arthritis to the candidate gene NRAMP1 on 2q35.

    abstract：:The macrophage resistance gene NRAMP1 regulates priming/activation of macrophages for enhanced TNF alpha, IL 1 beta, and MHC class II expression. Since all of these functions are of potential importance in the induction or maintenance or both of autoimmune disease, samples from the Arthritis and Rheumatism Council's r...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.33.8.672

    authors： Shaw MA,Clayton D,Atkinson SE,Williams H,Miller N,Sibthorpe D,Blackwell JM

    更新日期：1996-08-01 00:00:00

  • A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects.

    abstract：BACKGROUND:Although BRCA1 and BRCA2 mutations account for only ∼27% of the familial aggregation of ovarian cancer (OvC), no OvC risk prediction model currently exists that considers the effects of BRCA1, BRCA2 and other familial factors. Therefore, a currently unresolved problem in clinical genetics is how to counsel w...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmedgenet-2015-103077

    authors： Jervis S,Song H,Lee A,Dicks E,Harrington P,Baynes C,Manchanda R,Easton DF,Jacobs I,Pharoah PP,Antoniou AC

    更新日期：2015-07-01 00:00:00

  • Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus.

    abstract：:Mucopolysaccharidosis Type I (Hurler's syndrome) was diagnosed in an 18 week old fetus of a woman with 1 affected child by direct assay of glycosaminoglycans in amniotic fluid. Subsequently the fetus was aborted by hysterotomy and diagnosis was confirmed by analyzing glycosaminoglycans in fetal liver, electron microg...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.10.2.144

    authors： Crawfurd M,Dean MF,Hunt DM,Johnson DR,MacDonald RR,Muir H,Wright EA,Wright CR

    更新日期：1973-06-01 00:00:00

  • Translocation X;13 in a patient with retinoblastoma.

    abstract：:We describe the clinical and cytogenetic findings in a child with retinoblastoma and a translocation between chromosomes X and 13. The X;13 translocation in this patient does not involve band 13q14, the assigned locus for retinoblastoma. ...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.24.7.431

    authors： Ponzio G,Savin E,Cattaneo G,Ghiotti MP,Marra A,Zuffardi O,Danesino C

    更新日期：1987-07-01 00:00:00

  • Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

    abstract：:Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been identified in 13 of 14 patients tested. Research in the mouse model, scurfy, suggests that autoimmunity may stem from a lac...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1136/jmg.39.8.537

    authors： Wildin RS,Smyk-Pearson S,Filipovich AH

    更新日期：2002-08-01 00:00:00

  • Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.

    abstract：:This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitia...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.2006.047860

    authors： Menten B,Buysse K,Zahir F,Hellemans J,Hamilton SJ,Costa T,Fagerstrom C,Anadiotis G,Kingsbury D,McGillivray BC,Marra MA,Friedman JM,Speleman F,Mortier G

    更新日期：2007-04-01 00:00:00

  • The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

    abstract：PURPOSE AND SCOPE:The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章,实务指引

    doi：10.1136/jmedgenet-2015-103144

    authors： Boycott K,Hartley T,Adam S,Bernier F,Chong K,Fernandez BA,Friedman JM,Geraghty MT,Hume S,Knoppers BM,Laberge AM,Majewski J,Mendoza-Londono R,Meyn MS,Michaud JL,Nelson TN,Richer J,Sadikovic B,Skidmore DL,Stockley T,

    更新日期：2015-07-01 00:00:00

  • Spondylocostal dysostosis.

    abstract：:A female child with multiple vertebral and rib abnormalities is described. ...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.21.1.68

    authors： Young ID,Moore JR

    更新日期：1984-02-01 00:00:00

  • Congenital cutis laxa with retardation of growth and development.

    abstract：:Seven patients with congenital cutis laxa are presented. The associated features include developmental delay, joint laxity, wide anterior fontanelle, growth retardation, dental caries, and osteopenia. The heterogeneity and inheritance of congenital cutis laxa are discussed. This particular syndrome appears distinct an...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.24.9.556

    authors： Patton MA,Tolmie J,Ruthnum P,Bamforth S,Baraitser M,Pembrey M

    更新日期：1987-09-01 00:00:00

  • FISH analysis on spontaneously arising micronuclei in the ICF syndrome.

    abstract：:The ICF syndrome is a rare disorder where patients show undercondensation of the heterochromatic blocks of chromosomes 1, 9, and 16 along with variable immunodeficiency. The undercondensation of the heterochromatic block appears to be restricted to a portion of PHA stimulated T cells. Patients with this syndrome also ...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.32.7.502

    authors： Stacey M,Bennett MS,Hulten M

    更新日期：1995-07-01 00:00:00

  • Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

    abstract：BACKGROUND:The non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmedgenet-2016-104039

    authors： Scott DA,Hernandez-Garcia A,Azamian MS,Jordan VK,Kim BJ,Starkovich M,Zhang J,Wong LJ,Darilek SA,Breman AM,Yang Y,Lupski JR,Jiwani AK,Das B,Lalani SR,Iglesias AD,Rosenfeld JA,Xia F

    更新日期：2017-01-01 00:00:00

  • Sex linked deafness: Wilde revisited.

    abstract：:Sex linked recessive deafness is a rare cause of male genetic deafness, estimated to account for 6.2% of male genetic deafness in 1966. A male excess was found in the deaf population of Ireland in 1851. Reevaluation of this survey of 1851 confirms sex linked deafness as a factor in the disproportionate number of deaf ...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.27.6.376

    authors： Reardon W

    更新日期：1990-06-01 00:00:00

  • RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.

    abstract：:Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, obesity, and mental retardation. Variable biochemical changes many represent either pseudohypoparathyroidism (PHP) owing to resistance to parathormone (PTH) or pseudopseudohy...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.34.4.287

    authors： Power MM,James RS,Barber JC,Fisher AM,Wood PJ,Leatherdale BA,Flanagan DE,Hatchwell E

    更新日期：1997-04-01 00:00:00

  • Cowden syndrome.

    abstract：:Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in youn...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1136/jmg.32.2.117

    authors： Hanssen AM,Fryns JP

    更新日期：1995-02-01 00:00:00

  • Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen.

    abstract：:The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen were studied. He was born at term with the clinical features of severe OI, including deep grey-blue sclerae. He had severe ost...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.33.3.193

    authors： Cole WG,Lam TP

    更新日期：1996-03-01 00:00:00

  • A family study of bladder exstrophy.

    abstract：:The families of 102 index patients with bladder exstrophy treated at The Hospital for Sick Children, Great Ormond Street were studied in an attempt to arrive at an empirical risk of recurrence for sibs. Of the 102 patients, 89 had complete exstrophy, eight had partial exstrophy (variant), and five had exstrophy of the...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.17.2.139

    authors： Ives E,Coffey R,Carter CO

    更新日期：1980-04-01 00:00:00

  • Evidence of digenic inheritance in Alport syndrome.

    abstract：BACKGROUND:Alport syndrome is a clinically heterogeneous, progressive nephropathy caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 and COL4A5 on chromosome X. The wide phenotypic variability and the presence of incomplete penetrance suggest that a simple Mendelian model cannot complete...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmedgenet-2014-102822

    authors： Mencarelli MA,Heidet L,Storey H,van Geel M,Knebelmann B,Fallerini C,Miglietti N,Antonucci MF,Cetta F,Sayer JA,van den Wijngaard A,Yau S,Mari F,Bruttini M,Ariani F,Dahan K,Smeets B,Antignac C,Flinter F,Renieri A

    更新日期：2015-03-01 00:00:00

  • Partial trisomy 6p with karyotype 46,XY,der(22), t(6;22)(p22;q13)mat.

    abstract：:A case of partial trisomy 6p is reported with a review of the various characteristics of this syndrome. ...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章

    doi：10.1136/jmg.15.6.479

    authors： Côté GB,Papadakou-Lagoyanni S,Sbyrakis S

    更新日期：1978-12-01 00:00:00

  • A Y chromosomal influence on prostate cancer risk: the multi-ethnic cohort study.

    abstract：BACKGROUND:A Y chromosomal role in prostate cancer has previously been suggested by both cytogenetic findings and patterns of Y chromosomal gene expression. We took advantage of the well established and stable phylogeny of the non-recombining segment of the Y chromosome to investigate the association between Y chromoso...

    journal_title：Journal of medical genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1136/jmg.40.11.815

    authors： Paracchini S,Pearce CL,Kolonel LN,Altshuler D,Henderson BE,Tyler-Smith C

    更新日期：2003-11-01 00:00:00