Literature DB >> 2565377

Tyrosine hydroxylase and levodopa responsive dystonia.

N A Fletcher1, I J Holt, A E Harding, T G Nygaard, J Mallet, C D Marsden.   

Abstract

It has been suggested that a form of inherited dystonia responsive to levodopa might be due to an abnormality of tyrosine hydroxylase gene. This hypothesis has been tested using a cDNA tyrosine hydroxylase gene probe in three families with this disorder. No evidence for genetic linkage between the disease and tyrosine hydroxylase loci was found; it is possible that the disorder results from a post-transcriptional defect confined to the brain.

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Year:  1989        PMID： 2565377      PMCID： PMC1032668          DOI： 10.1136/jnnp.52.1.112

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  7 in total

1.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

2.  Linkage of tyrosine hydroxylase to four other markers on the short arm of chromosome 11.

Authors:  P A Moss; K E Davies; C Boni; J Mallet; S T Reeders
Journal:  Nucleic Acids Res       Date:  1986-12-22       Impact factor: 16.971

Review 3.  Bipolar affective disorders linked to DNA markers on chromosome 11.

Authors:  J A Egeland; D S Gerhard; D L Pauls; J N Sussex; K K Kidd; C R Allen; A M Hostetter; D E Housman
Journal:  Nature       Date:  1987 Feb 26-Mar 4       Impact factor: 49.962

4.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

5.  A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics.

Authors:  B Grima; A Lamouroux; C Boni; J F Julien; F Javoy-Agid; J Mallet
Journal:  Nature       Date:  1987 Apr 16-22       Impact factor: 49.962

6.  Localization of the human tyrosine hydroxylase gene to 11p15: gene duplication and evolution of metabolic pathways.

Authors:  S P Craig; V J Buckle; A Lamouroux; J Mallet; I Craig
Journal:  Cytogenet Cell Genet       Date:  1986

7.  Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms.

Authors:  K Tanaka; M Yoneda; T Nakajima; T Miyatake; M Owada
Journal:  Neurology       Date:  1987-03       Impact factor: 9.910
  7 in total
  4 in total

1.  Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.

Authors:  D Schuback; P Kramer; L Ozelius; G Holmgren; L Forsgren; M Kyllerman; J Wahlström; C M Craft; T Nygaard; M Brin
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

2.  Lessons from a remarkable family with dopa-responsive dystonia.

Authors:  G Harwood; R Hierons; N A Fletcher; C D Marsden
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-04       Impact factor: 10.154

3.  Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

Authors:  D J Kwiatkowski; T G Nygaard; D E Schuback; S Perman; J M Trugman; S B Bressman; R E Burke; M F Brin; L Ozelius; X O Breakefield
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

4.  A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.

Authors:  B Lüdecke; B Dworniczak; K Bartholomé
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132
  4 in total

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