Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.
Details
Serval ID
serval:BIB_77A5B40D8546
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.
Journal
Neurology
ISSN
0028-3878
Publication state
Published
Issued date
06/2002
Peer-reviewed
Oui
Volume
58
Number
12
Pages
1839-1842
Language
english
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.
Keywords
Aged, Antiparkinson Agents/therapeutic use, Dystonia/drug therapy, Dystonia/genetics, Female, Humans, Levodopa/therapeutic use, Male, Pedigree, Substantia Nigra/pathology
Pubmed
Web of science
Create date
28/01/2008 13:59
Last modification date
20/08/2019 15:34
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