Abstract
A recent study reported an increase of brain tissue copper content in the lentiform nuclei of patients with primary adult-onset dystonia. In this study we analyze copper-metabolizing proteins (Menkes protein, Wilson protein, ceruloplasmin) by Western blot analysis in frozen brain tissue (lentiform nuclei) of 3 patients with primary dystonia. Menkes protein was reduced in all patients, while Wilson protein and ceruloplasmin were increased in the 2 patients with focal dystonia and reduced in the patient with generalized dystonia. Our data provides further evidence for a disturbance of copper metabolism in primary dystonia.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adenosine Triphosphatases / analysis
-
Adenosine Triphosphatases / metabolism*
-
Aged
-
Carrier Proteins / analysis
-
Carrier Proteins / metabolism*
-
Cation Transport Proteins*
-
Ceruloplasmin / analysis
-
Ceruloplasmin / metabolism*
-
Copper / metabolism
-
Copper-Transporting ATPases
-
Dystonic Disorders / metabolism*
-
Female
-
Globus Pallidus / chemistry
-
Globus Pallidus / metabolism*
-
Humans
-
Male
-
Middle Aged
-
Putamen / chemistry
-
Putamen / metabolism*
-
Recombinant Fusion Proteins*
-
Reference Values
-
White People
Substances
-
Carrier Proteins
-
Cation Transport Proteins
-
Recombinant Fusion Proteins
-
Copper
-
Ceruloplasmin
-
Adenosine Triphosphatases
-
ATP7A protein, human
-
Copper-Transporting ATPases