en
Scientific article
Case report
English

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

Published inNeurology, vol. 58, no. 12, p. 1839-1842
Publication date2002
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/genetics/pathology
  • Female
  • Humans
  • Levodopa/therapeutic use
  • Male
  • Pedigree
  • Substantia Nigra/pathology
Citation (ISO format)
GRÖTZSCH, H et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, <i>DYT14</i>. In: Neurology, 2002, vol. 58, n° 12, p. 1839–1842. doi: 10.1212/WNL.58.12.1839
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Article (Published version)
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Identifiers
ISSN of the journal0028-3878
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