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Neuropediatrics 2013; 44(02): 061-066
DOI: 10.1055/s-0033-1337337
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Dopa-Responsive Dystonia Is Caused by Particular Impairment of Nigrostriatal Dopamine Neurons Different from Those Involved in Parkinson Disease: Evidence Observed in Studies on Segawa Disease

Masaya Segawa
1   Segawa Neurological Clinic for Children, Tokyo, Japan
,
Yoshiko Nomura
1   Segawa Neurological Clinic for Children, Tokyo, Japan
,
Masaharu Hayashi
2   Tokyo Metropolitan Institute of Medical Science, Setagaya-ku, Tokyo, Japan
› Author Affiliations
Further Information

Publication History

22 January 2013

28 January 2013

Publication Date:
06 March 2013 (online)

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Abstract

From the characteristics of its clinical features, Segawa disease is considered to be caused by deficiency of the tyrosine hydroxylase (TH) of the nigrostriatal dopamine neurons, which have high TH activities in the terminal but not in the perikaryon. This hypothesis was confirmed by two autopsied cases. However, these cases were younger than 40 years and left a question as to whether these abnormalities turned to those of Parkinson disease in older ages. An autopsy of a 90-year-old woman with Segawa disease confirmed the hypothesis that Segawa disease has a completely different pathophysiology and pathology than Parkinson disease.

Keywords

Segawa disease - Parkinson disease - nigrostriatal dopamine neuron
 

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