Disease relevance of DYT6

• Adult-onset parkinsonism has appeared in several previously unaffected members in families with DRD suggesting that this may be an additional phenotypical expression of the disease [1].
• Adult onset Niemann-Pick disease type C presenting with psychosis [2].
• Adult-onset primary torsion dystonia (PTD) may spread to multiple body parts, but the relative risk of spread by site of onset of dystonia has not been well characterized [3].
• Adult-onset focal dystonias: presentation and treatment options [4].
• Adult-onset re-emergent stuttering as a presentation of Parkinson's disease [5].

Psychiatry related information on DYT6

• Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia [6].
• CONCLUSIONS: Adult onset tic disorders represent an underrecognised condition that is more common than generally appreciated or reported [7].
• CONCLUSIONS: Adult onset nocturnal enuresis with absent daytime incontinence is a serious symptom that usually heralds significant urethral obstruction, and a high incidence of bladder diverticulum, hydronephrosis and vesicoureteral reflux [8].
• Male and female alcoholics (n = 321) with ASPD or DSM III subtypes [Conduct Disorder; Adult Onset ASPD] were compared to non-ASPD alcoholics on several etiological features of alcoholism and its clinical presentation immediately prior to treatment [9].

High impact information on DYT6

• 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 [10].
• Adult-onset idiopathic hypogonadotropic hypogonadism--a treatable form of male infertility [11].
• Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation [12].
• The DYT6 locus on chromosome 8 is associated with a mixed phenotype, whereas the DYT7 locus on chromosome 18p is associated with adult onset focal cervical dystonia Several families have been described in which linkage to the known PTD loci have been excluded [13].
• We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8 [14].

Chemical compound and disease context of DYT6

• Adult-onset hypothyroidism facilitates and enhances LTD: Reversal by chronic nicotine treatment [15].
• A New Locus (GLC1H) for Adult-Onset Primary Open-angle Glaucoma Maps to the 2p15-p16 Region [16].
• Adult-onset myasthenia gravis is an acquired autoimmune disorder of neuromuscular transmission in which acetylcholine receptor antibodies attack the postsynaptic membrane of the neuromuscular junction [17].

Biological context of DYT6

• Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects [18].
• Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study [19].
• CONCLUSIONS: 1) Adult-onset GHD patients have normal bone density and size [20].
• Adult-onset glycogen storage disease type II (GSD-II), unlike the infantile form, is not normally associated with coexisting cardiovascular pathologies [21].
• Adult onset acute myelogenous leukemia and electromagnetic fields in Los Angeles County: bed-heating and occupational exposures [22].

Anatomical context of DYT6

• Genotype-specific changes in DYT6 involved hypometabolism of the putamen and hypermetabolism in the temporal cortex (BA 21) [23].
• Adult-onset primary lower limb dystonia [24].
• Adult-onset acid maltase deficiency is an inherited lysosomal skeletal-muscle disease characterized by progressive myopathy and respiratory failure, for which there is no known therapy [25].
• Adult onset of T-cell deficiency with impaired CD2 expression complicated by Rhodococcus infection: a case report [26].
• Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate [27].

Associations of DYT6 with chemical compounds

• Adult-onset Still's disease: evaluation by gallium-67 citrate scintigraphy [28].

Other interactions of DYT6

• Although linkage analysis was not completely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7 [18].
• OBJECTIVE: Adult onset type II citrullinemia is an inherited disorder of amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity [29].
• CONCLUSIONS: Adult-onset IBAM is not directly related to dysfunctional mutations in the coding region or intron/exon junctions of the SLC10A2 gene [30].
• Adult onset IGE shares many features with "classical" IGE, including EEG findings and prognosis, and is likely to represent a genetic epilepsy [31].
• CONCLUSIONS: Adult-onset myopes comprised nearly half of the simple myopic subjects, and their family history of myopia was similar to that of youth-onset myopes [32].

Analytical, diagnostic and therapeutic context of DYT6

• Adult-onset foveomacular vitelliform dystrophy: a study by optical coherence tomography [33].
• Adult-onset atopic dermatitis in a patch test population [34].
• CONCLUSIONS: Adult onset Langerhans cell histiocytosis, though rare, should be included in the differential diagnosis of lytic lesions of the lateral orbital wall in an adult patient [35].

References