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

被引：43

作者：

Grötzsch, H

Pizzolato, GP

Ghika, J

Schorderet, D

Vingerhoets, FJ

Landis, T

Burkhard, PR

机构：

[1] Univ Hosp, Dept Neurol, Geneva, Switzerland

[2] Univ Hosp, Dept Neuropathol, Geneva, Switzerland

[3] Univ Hosp, Dept Neurol, Lausanne, Switzerland

[4] Univ Hosp, Dept Genet, Lausanne, Switzerland

来源：

NEUROLOGY | 2002年 / 58卷 / 12期

关键词：

D O I：

10.1212/WNL.58.12.1839

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1839 / 1842

页数：4

共 8 条

[1] The substantia nigra of the human brain - II. Patterns of loss of dopamine-containing neurons in Parkinson's disease [J].