Degeneration of the cerebellar system in X‐chromosome—linked copper malabsorption

Makoto Iwata, Asao Hirano, Joseph H. French

Research output: Contribution to journalArticlepeer-review

40 Scopus citations


Examination of the cerebellar system of 5 autopsied patients with X‐chromosome–linked copper malabsorption led to the discovery that among cerebellar afferent systems, only the dorsal spinocerebellar tract showed consistent degenerative changes. Cerebellar cortical lesions comprised granule cell loss and Purkinje cell abnormalities that included nuclear and cytoplasmic degenerative changes with cell loss and deficient dendritic arborization as well as the presence of somatic sprouts. Perisomatic baskets were often absent in the area of sprouting Purkinje cells. Cerebellar cortical topographical analysis revealed relative sparing of the caudal portion of the cerebellum. The nodulus was intact in all patients. The dentate nucleus and the superior cerebellar peduncle were preserved. The red nucleus was consistently degenerated.

Original languageEnglish (US)
Pages (from-to)542-549
Number of pages8
JournalAnnals of Neurology
Issue number6
StatePublished - Jun 1979

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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