Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency

James M. Powers, David S. Rosenblatt, Robert E. Schmidt, Anne H. Cross, Joseph T. Black, Ann B. Moser, Hugo W. Moser, Daniel J. Morgan

Research output: Contribution to journalArticle

Abstract

Two adult brothers, one documented to have methylma-Ionic acidemia with homocystinuria, or cobalamin C deficiency, after autopsy, displayed severe but divergent neurological presentations. One exhibited a myelopathy and the other chronic endocrine problems (Schmidt's syndrome) followed by a neuropsychiatric and dementing disorder owing to cerebral perivascular demyelination. The recognition of cobalamin C deficiency has practical implications because it is one of the few inherited diseases of central white matter that is treatable.

Original languageEnglish (US)
Pages (from-to)396-400
Number of pages5
JournalAnnals of neurology
Volume49
Issue number3
DOIs
StatePublished - Mar 20 2001

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Powers, J. M., Rosenblatt, D. S., Schmidt, R. E., Cross, A. H., Black, J. T., Moser, A. B., Moser, H. W., & Morgan, D. J. (2001). Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency. Annals of neurology, 49(3), 396-400. https://doi.org/10.1002/ana.78