Literature DB >> 15159499

Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.

B E Assmann1, R O Robinson, R A H Surtees, C Bräutigam, S J R Heales, R A Wevers, J Zschocke, K Hyland, R Sharma, G F Hoffmann.   

Abstract

Two girls and one boy are described, with severe infantile parkinsonism-dystonia. This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder: ocular flutter together with saccade initiation failure. Pyramidal tract signs also emerged in the course of the disease in two patients. This combination of symptoms and biochemical findings suggests a unique pathogenic mechanism.

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Year:  2004        PMID： 15159499     DOI： 10.1212/01.wnl.0000126440.16612.51

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  8 in total

Review 1.  Regulation of the Dopamine and Vesicular Monoamine Transporters: Pharmacological Targets and Implications for Disease.

Authors:  Christopher L German; Michelle G Baladi; Lisa M McFadden; Glen R Hanson; Annette E Fleckenstein
Journal:  Pharmacol Rev       Date:  2015-10       Impact factor: 25.468

Review 2.  Current Methods for the Treatment and Prevention of Drug-Induced Parkinsonism and Tardive Dyskinesia in the Elderly.

Authors:  Carlos Estevez-Fraga; Paul Zeun; Jose Luis López-Sendón Moreno
Journal:  Drugs Aging       Date:  2018-11       Impact factor: 3.923

3.  Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

Authors:  Manju A Kurian; Juan Zhen; Shu-Yuan Cheng; Yan Li; Santosh R Mordekar; Philip Jardine; Neil V Morgan; Esther Meyer; Louise Tee; Shanaz Pasha; Evangeline Wassmer; Simon J R Heales; Paul Gissen; Maarten E A Reith; Eamonn R Maher
Journal:  J Clin Invest       Date:  2009-05-26       Impact factor: 14.808

4.  Infantile parkinsonism-dystonia: a dopamine "transportopathy".

Authors:  Craig Blackstone
Journal:  J Clin Invest       Date:  2009-06       Impact factor: 14.808

5.  Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.

Authors:  Manju A Kurian; Yan Li; Juan Zhen; Esther Meyer; Nebula Hai; Hans-Jürgen Christen; Georg F Hoffmann; Philip Jardine; Arpad von Moers; Santosh R Mordekar; Finbar O'Callaghan; Evangeline Wassmer; Elizabeth Wraige; Christa Dietrich; Timothy Lewis; Keith Hyland; Simon Heales; Terence Sanger; Paul Gissen; Birgit E Assmann; Maarten E A Reith; Eamonn R Maher
Journal:  Lancet Neurol       Date:  2010-11-25       Impact factor: 44.182

6.  Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

Authors:  Joanne Ng; Juan Zhen; Esther Meyer; Kevin Erreger; Yan Li; Naseebullah Kakar; Jamil Ahmad; Holger Thiele; Christian Kubisch; Nicholas L Rider; D Holmes Morton; Kevin A Strauss; Erik G Puffenberger; Daniela D'Agnano; Yair Anikster; Claudia Carducci; Keith Hyland; Michael Rotstein; Vincenzo Leuzzi; Guntram Borck; Maarten E A Reith; Manju A Kurian
Journal:  Brain       Date:  2014-03-10       Impact factor: 13.501

7.  Oculogyric Crisis in a Girl with Infantile Parkinsonism-Dystonia-2.

Authors:  Bhanudeep Singanamalla; Gurpreet Kochar; Arushi Gahlot Saini
Journal:  Ann Indian Acad Neurol       Date:  2021-08-05       Impact factor: 1.383

8.  Genetic elimination of dopamine vesicular stocks in the nigrostriatal pathway replicates Parkinson's disease motor symptoms without neuronal degeneration in adult mice.

Authors:  Elsa Isingrini; Chloé Guinaudie; Léa C Perret; Quentin Rainer; Luc Moquin; Alain Gratton; Bruno Giros
Journal:  Sci Rep       Date:  2017-09-29       Impact factor: 4.379
  8 in total

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