Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.
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.
Aged, Antiparkinson Agents/therapeutic use, Dystonia/drug therapy, Dystonia/genetics, Female, Humans, Levodopa/therapeutic use, Male, Pedigree, Substantia Nigra/pathology
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