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

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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
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

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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

N2 - 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.

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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JF - Annals of neurology

IS - 3

ER -

Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency

Abstract

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