Genomes and Genes
L J Ozelius
Affiliation: Harvard University
- The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinL J Ozelius
Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA
Nat Genet 17:40-8. 1997..This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases...
- The TOR1A (DYT1) gene family and its role in early onset torsion dystoniaL J Ozelius
Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Genomics 62:377-84. 1999..Proteins encoded by this gene family share functional domains with the AAA/HSP/Clp-ATPase superfamily of chaperone-like proteins, but appear to represent a distinct evolutionary branch...
- The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock familyL J Ozelius
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA
Adv Neurol 78:93-105. 1998
- Expression of the early-onset torsion dystonia gene (DYT1) in human brainS J Augood
Neurology Service, Massachusetts General Hospital, and Harvard Medical School, Boston 02114, USA
Ann Neurol 43:669-73. 1998....
- Association of a missense change in the D2 dopamine receptor with myoclonus dystoniaC Klein
Molecular Neurogenetics Unit, Neurology Service, Massachusetts General Hospital and Department of Neurology, Harvard Medical School, Boston, MA 02114, USA
Proc Natl Acad Sci U S A 96:5173-6. 1999..Our finding provides evidence for the involvement of DRD2 in a disorder of the central nervous system and should lead to further insight into the function of the dopaminergic system in dystonia and other movement and mood disorders...
- Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cellsJ Hewett
Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
Hum Mol Genet 9:1403-13. 2000..If disrupted processing of the mutant protein leads to its accumulation in multilayer membranous structures in vivo, these may interfere with membrane trafficking in neurons...
- Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosisA Blumenfeld
Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston 02129
Nat Genet 4:160-4. 1993..f. p < 0.0001). D9S53 and D9S105 represent the closest flanking markers for the disease gene. This localization will permit prenatal diagnosis of DYS in affected families and aid the isolation of the disease gene...
- [Genetics of dystonia]C Klein
Neurology Department, Massachusetts General Hospital, Boston, USA
Nervenarzt 71:431-41. 2000....
- Increased risk for recurrent major depression in DYT1 dystonia mutation carriersG A Heiman
Department of Epidemiology of Joseph L Mailman School of Public Health, Columbia University, New York 10032, USA
Neurology 63:631-7. 2004..This comorbidity could be a reaction to a chronic debilitating disorder or expression of a predisposing gene. The authors took advantage of the identification of a gene for dystonia, DYT1, to test these alternative explanations...
- Mutations in DYT1: extension of the phenotypic and mutational spectrumK Kabakci
Department of Neurology, University of Lubeck, Germany
Neurology 62:395-400. 2004..Exon rearrangements are a common mutation type in other genes and have not yet been tested for in DYT1. Several lines of evidence suggest a relationship of the DYT1 gene with Parkinson disease (PD)...
- High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screeningJ Hagenah
Department of Neurology, University of Lubeck, Lubeck, Germany
Neurology 64:908-11. 2005..The authors attribute this high mutation rate to rigorous inclusion criteria and comprehensive mutational analysis...
- Phenotype-genotype correlation in Dutch patients with myoclonus-dystoniaM C F Gerrits
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
Neurology 66:759-61. 2006..Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers...
- DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson diseaseK Hedrich
Department of Human Genetics, University of Lubeck, Germany
Neurology 62:389-94. 2004..DJ-1 (PARK7) was recently reported as a second gene associated with recessively inherited PD with a homozygous exon deletion and a homozygous point mutation in two families...
- A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer studyN Sharma
Department of Neurology, Alzheimer s Disease Research Unit, and the Department of Neurology, Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown, Massachusetts Albert Einstein College of Medicine, Bronx, New York
Am J Pathol 159:339-44. 2001..Using sensitive fluorescent resonance energy transfer (FRET) techniques, we find evidence of a close association between torsinA and alpha-synuclein in Lewy bodies...
- Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonismJ C Leung
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA
Neurogenetics 3:133-43. 2001..This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia...
- The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonismK Hedrich
Department of Neurology, Medical University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
Hum Mol Genet 10:1649-56. 2001..Furthermore, our method of quantitative PCR is easily applicable to any other gene to be screened for deletions or duplications of whole exons...
- Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31T G Nygaard
Department of Neurology, East Orange Veteran s Administration Medical Center, NJ, USA
Ann Neurol 46:794-8. 1999..The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus-dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31...
- Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriersC W Hess
Department of Neurology, PACC, Beth Israel Medical Center, Suite 5J, 10 Union Square East, New York, NY 10003, USA
Neurology 68:522-4. 2007....
- Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13P L Kramer
Department of Neurology, Oregon Health Sciences University, Portland 97201, USA
Ann Neurol 46:176-82. 1999..Identification of the genetic defect in RDP holds promise for understanding the underlying disease processes of both of these more common diseases...
- The parkin gene is not involved in late-onset Parkinson's diseaseM Kann
Neurology 58:835; author reply 835. 2002
- Genetic heterogeneity in ten families with myoclonus-dystoniaB Schule
Department of Neurology, University of Lubeck, Germany
J Neurol Neurosurg Psychiatry 75:1181-5. 2004..Furthermore, single variants in the dopamine D2 receptor (DRD2) and DYT1 genes were found in combination with SGCE mutations in two M-D families, and another M-D locus was recently mapped to chromosome 18p11 in one family...
- Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutationsK Hedrich
Department of Neurology, , Germany
Neurology 62:1229-31. 2004
- Myoclonus-dystonia: significance of large SGCE deletionsA Grunewald
Department of Neurology, Lübeck University, Lubeck, Germany
Hum Mutat 29:331-2. 2008..In conclusion, a rigorous clinical preselection of patients and careful accounting for non-motor signs should precede mutational tests. Gene dosage studies should be included in routine SGCE genetic testing...