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Degeneration of the cerebellar system in X‐chromosome—linked copper malabsorption
Author(s) -
Iwata Makoto,
Hirano Asao,
French Joseph H.
Publication year - 1979
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410050609
Subject(s) - malabsorption , degeneration (medical) , cerebellar degeneration , copper , medicine , pathology , cerebellum , chemistry , organic chemistry
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.