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

doi:10.1002/ana.78

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 journal › Article › peer-review

47 Scopus citations

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 language	English (US)
Pages (from-to)	396-400
Number of pages	5
Journal	Annals of neurology
Volume	49
Issue number	3
DOIs	https://doi.org/10.1002/ana.78
State	Published - 2001
Externally published	Yes

ASJC Scopus subject areas

Neurology
Clinical Neurology

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title = "Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency",

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.",

author = "Powers, \{James M.\} and Rosenblatt, \{David S.\} and Schmidt, \{Robert E.\} and Cross, \{Anne H.\} and Black, \{Joseph T.\} and Moser, \{Ann B.\} and Moser, \{Hugo W.\} and Morgan, \{Daniel J.\}",

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AU - Powers, James M.

AU - Rosenblatt, David S.

AU - Schmidt, Robert E.

AU - Cross, Anne H.

AU - Black, Joseph T.

AU - Moser, Ann B.

AU - Moser, Hugo W.

AU - Morgan, Daniel J.

PY - 2001

Y1 - 2001

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AB - 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.

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JO - Annals of neurology

JF - Annals of neurology

IS - 3

ER -

Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency

Abstract

ASJC Scopus subject areas

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