Disease relevance of DYT7

• Genetic loci for an "intermediate dystonia" phenotype and for torticollis, named DYT6 and DYT7 respectively, have recently been mapped in single families [1].
• Adult onset Still's disease should be considered in the differential diagnosis of 'pyrexia of unknown origin' [2].
• Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by symmetrical widespread myelin loss in the central nervous system, with a phenotype similar to chronic progressive multiple sclerosis [3].
• Adult-onset Hirschsprung's disease [4].
• Adult-onset cyclic neutropenia is a benign neoplasm associated with clonal proliferation of large granular lymphocytes [5].

Psychiatry related information on DYT7

• Adult-onset adrenoleukodystrophy manifesting as dementia [6].
• Adult onset of Tourette's syndrome: a case report [7].
• Adult onset nocturnal enuresis [8].
• Adult onset tic disorders [9].
• Adult onset myoclonic Huntington's disease [10].

High impact information on DYT7

• Platelet aggregation. Adult-onset diabetes mellitus and coronary artery disease [11].
• Adult-onset cyclic neutropenia is an acquired disease characterized by increased numbers of large granular lymphocytes (LGL), in contrast to childhood-onset cyclic neutropenia in which LGL counts are normal [5].
• Adult-onset primary open-angle glaucoma (POAG) is the most common form of glaucoma in the United States. We present a family in which adult-onset POAG is inherited as an autosomal dominant trait [12].
• De Subitaneis Mortibus. XXI. Adult onset syncope. with comments on the nature of congenital heart block and the morphogenesis of the human atrioventricular septal junction [13].
• Adult-onset Mendelian oxidative phosphorylation diseases, which can be inherited as autosomal recessive or dominant traits, have a milder phenotype, and most are associated with multiple mtDNA deletions [14].

Chemical compound and disease context of DYT7

• Adult-onset celiac disease hidden by chronic steroid therapy for a skin disease [15].
• Adult-onset hypothyroidism facilitates and enhances LTD: Reversal by chronic nicotine treatment [16].
• Adult onset male hypogonadism and the testosterone deficiency of the aging male often are under-recognized entities [17].
• Adult onset nesidioblastosis: response of glucose, insulin, and secondary peptides to therapy with Sandostatin [18].
• Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients [19].

Biological context of DYT7

• A common deleted area, covering the DYT7 locus, places the putative dystonia gene between the telomere of 18p and D18S1104 (49.6 cM) [20].
• We have now tested the relevance of this DYT7 gene locus in a collective of 18 nuclear AFITD families from Central Europe who were genotyped with chromosome 18p microsatellites [21].
• Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects [22].
• Adult-onset sensitization to casein after occupational exposure to aerosolized Tryptone powder [23].
• Adult-onset type 1 diabetes mellitus (age at diagnosis, >25 yr) and latent autoimmune diabetes of the adult were significantly associated with major histocompatibility complex class I chain-related A gene 5.1, which was not significantly increased among diabetic children [24].

Anatomical context of DYT7

• Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive, neurological disorder characterized by symmetrical widespread myelin loss in the CNS, and the phenotype is similar to that of chronic progressive multiple sclerosis [25].
• Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family [26].
• Adult-onset neuronal intranuclear hyaline inclusion disease [27].
• Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination [28].
• Adult-onset GM2 gangliosidosis. Seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation [29].

Associations of DYT7 with chemical compounds

• Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency [30].
• Adult-onset diabetics have markedly diminished or absent acute insulin responses to glucose that can be partially restored by sodium salicylate infusion [31].
• Adult onset Still's disease and collapsing glomerulopathy: successful treatment with intravenous immunoglobulins and mycophenolate mofetil [32].
• Adult onset ornithine transcarbamylase deficiency: an unusual cause of semantic disorders [33].
• Adult-onset lactase decline appears to be a risk factor for developing osteoporosis, owing to avoidance of dairy products or interference of undigested lactose with calcium absorption [34].

Analytical, diagnostic and therapeutic context of DYT7

• Adult onset of major depressive disorder in relation to early life violent victimisation: a case-control study [35].
• Adult-onset "infant" botulism: an unusual cause of weakness in the intensive care unit [36].
• Adult-onset foveomacular vitelliform dystrophy: a study by optical coherence tomography [37].
• Adult-onset Still disease: evaluation with serial f-18 fluorodeoxyglucose positron emission tomography [38].
• Adult-onset type II citrullinemia: clinical pictures before and after liver transplantation [39].

References