Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism

Satoshi Goto, Lillian V. Lee, Edwin L. Munoz, Ikuo Tooyama, Gen Tamiya, Satoshi Makino, Satoshi Ando, Marita B. Dantes, Kazumichi Yamada, Sadayuki Matsumoto, Hideki Shimazu, Jun Ichi Kuratsu, Asao Hirano, Ryuji Kaji

Research output: Contribution to journalArticlepeer-review

157 Scopus citations


Dystonia is a neurological syndrome characterized by sustained muscle contractions that produce repetitive twisting movements or abnormal postures. X-linked recessive dystonia parkinsonism (XDP; DYT3; Lubag) is an adult-onset disorder that manifests severe and progressive dystonia with a high frequency of generalization. In search for the anatomical basis for dystonia, we performed postmortem analyses of the functional anatomy of the basal ganglia based on the striatal compartments (ie, the striosomes and the matrix compartment) in XDP. Here, we provide anatomopathological evidence that, in the XDP neostriatum, the matrix compartment is relatively spared in a unique fashion, whereas the striosomes are severely depleted. We also document that there is a differential loss of striatal neuron subclasses in XDP. In view of the three-pathway basal ganglia model, we postulate that the disproportionate involvement of neostriatal compartments and their efferent projections may underlie the manifestation of dystonia in patients with XDP. This study is the first to our knowledge to show specific basal ganglia pathology that could explain the genesis of dystonia in human heredodegenerative movement disorders, suggesting that dystonia may result from an imbalance in the activity between the striosomal and matrix-based pathways.

Original languageEnglish (US)
Pages (from-to)7-17
Number of pages11
JournalAnnals of Neurology
Issue number1
StatePublished - Jul 2005

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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