Literature DB >> 12084887

Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.

H Grötzsch1, G-P Pizzolato, J Ghika, D Schorderet, F J Vingerhoets, T Landis, P R Burkhard.   

Abstract

Detailed autopsy findings are reported for a patient with dopa-responsive dystonia genetically related to the dopa-responsive dystonia locus DYT14 on chromosome 14q13. Substantia nigra and locus ceruleus showed a normal abundance of severely hypomelanized dopaminergic neurons and no Lewy body. In the nigra, the reduction of melanin pigment was found to be asymmetric between the two sides and uneven within neurons, and the lateral aspect of the nigra appeared more affected than the medial, in a pattern similar to the neuronal loss in PD. Dopa-responsive dystonia has a unique neuropathologic signature that seems to be independent of its genotype.

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Year:  2002        PMID： 12084887     DOI： 10.1212/wnl.58.12.1839

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


  15 in total

Review 1.  Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.

Authors:  Connie Marras; Katja Lohmann; Anthony Lang; Christine Klein
Journal:  Neurology       Date:  2012-03-27       Impact factor: 9.910

Review 2.  Update on the pathology of dystonia.

Authors:  David G Standaert
Journal:  Neurobiol Dis       Date:  2011-01-08       Impact factor: 5.996

Review 3.  Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Authors:  Susanne A Schneider; Roy N Alcalay
Journal:  Mov Disord       Date:  2017-11       Impact factor: 10.338

4.  Evidence for specific phases in the development of human neuromelanin.

Authors:  G M Halliday; H Fedorow; C H Rickert; M Gerlach; P Riederer; K L Double
Journal:  J Neural Transm (Vienna)       Date:  2006-04-11       Impact factor: 3.575

Review 5.  The treatment of movement disorders by deep brain stimulation.

Authors:  Hong Yu; Joseph S Neimat
Journal:  Neurotherapeutics       Date:  2008-01       Impact factor: 7.620

6.  Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

Authors:  C Wider; S Melquist; M Hauf; A Solida; S A Cobb; J M Kachergus; J Gass; K D Coon; M Baker; A Cannon; D A Stephan; D F Schorderet; J Ghika; P R Burkhard; G Kapatos; M Hutton; M J Farrer; Z K Wszolek; F J G Vingerhoets
Journal:  Neurology       Date:  2007-09-05       Impact factor: 9.910

Review 7.  The genetics of dystonias.

Authors:  Mark S LeDoux
Journal:  Adv Genet       Date:  2012       Impact factor: 1.944

8.  Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.

Authors:  Martin Göttle; Cecilia N Prudente; Rong Fu; Diane Sutcliffe; Hong Pang; Deborah Cooper; Emir Veledar; Jonathan D Glass; Marla Gearing; Jasper E Visser; H A Jinnah
Journal:  Ann Neurol       Date:  2014-06-20       Impact factor: 10.422

9.  Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia.

Authors:  Kenta Sato; Chiho Sumi-Ichinose; Ryuji Kaji; Kazuhisa Ikemoto; Takahide Nomura; Ikuko Nagatsu; Hiroshi Ichinose; Masayuki Ito; Wataru Sako; Shinji Nagahiro; Ann M Graybiel; Satoshi Goto
Journal:  Proc Natl Acad Sci U S A       Date:  2008-08-19       Impact factor: 11.205

Review 10.  Treating complex movement disorders in children with cerebral palsy.

Authors:  Claire Lundy; Daniel Lumsden; Charlie Fairhurst
Journal:  Ulster Med J       Date:  2009-09
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