Condition: Dystonia
rs879253799 in
DCAF17 gene and
Dystonia
PMID 26612766 2016 Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.
rs1372180906 in
MIR4686;TH gene and
Dystonia
PMID 21465550 2011 Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype.
PMID 17696123 2007 Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
rs797045055 in
ND5;ND6;CYTB gene and
Dystonia
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
rs531630376 in
PCDH12 gene and
Dystonia
PMID 30459466 2019 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
rs63750687 in
PSEN1 gene and
Dystonia
PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
rs104893665 in
SPR gene and
Dystonia
PMID 23430877 2012 Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
PMID 11443547 2001 Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
PMID 21431957 2011 Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
PMID 21677200 2011 Whole-genome sequencing for optimized patient management.
PMID 24212389 2013 Very early pattern of movement disorders in sepiapterin reductase deficiency.
PMID 16917893 2006 Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
rs121917763 in
TH gene and
Dystonia
PMID 8817341 1996 Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
PMID 19282209 2009 Tyrosine hydroxylase deficiency with severe clinical course.
PMID 2019643 1991 Magnetic stimulation of the nervous system.
PMID 20430833 2010 Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
PMID 23480488 2013 Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
PMID 12891655 2003 Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
PMID 24753243 2014 Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
PMID 22264700 2012 Tyrosine hydroxylase deficiency in Taiwanese infants.
PMID 28087438 2017 Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.
PMID 20056467 2010 Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
PMID 9703425 1998 A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
PMID 20823027 2011 Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.
PMID 10407773 1999 A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
PMID 26276013 2015 Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.
PMID 20492352 2010 Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2.
rs80358233 in
TOR1A gene and
Dystonia
PMID 9874484 1998 The role of DYT1 in primary torsion dystonia in Europe.
PMID 9288096 1997 The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
rs139455627 in
TSPEAR gene and
Dystonia
PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
rs1569151872 in
TSPEAR-AS1;TSPEAR gene and
Dystonia
PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
rs748787734 in
TUBB4A gene and
Dystonia
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs1447313633 in
ZNF142 gene and
Dystonia
PMID 31036918 2019 Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.