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Neurology 2002;58:1839-1842
© 2002 American Academy of Neurology
Brief Communications

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

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

From the Departments of Neurology (Drs. Grötzsch, Landis, and Burkhard) and Neuropathology (Dr. Pizzolato), University Hospital, Geneva; and Departments of Neurology (Drs. Ghika and Vingerhoets) and Genetics (Dr. Schorderet), University Hospital, Lausanne, Switzerland.

Address correspondence and reprint requests to Dr. Pierre R. Burkhard, Clinique et Policlinique de Neurologie, Hôpital Cantonal Universitaire/HUG, 1211 Genève 14, Switzerland; e-mail: Pierre.Burkhard{at}hcuge.ch

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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