Copper deficiency associated with severe neurological disorder--a genetic work-up of possible mutations in copper transport proteins.
BACKGROUND
Copper deficiency has been described as resulting in severe neurological impairment. However, mechanisms underlying a copper deficiency are presently unknown.


METHODS
We describe three patients suffering from severe spasticity, ataxia and hyperreflexia and had laboratory evidence of copper deficiency.


RESULTS
Genetic analysis of six copper transporters/chaperones revealed no mutations, but two SNPs in one copper transporter protein and one copper chaperone.


CONCLUSIONS
Owing to the severity of the disease further research is required to elucidate the mechanisms leading to copper deficiency.
Department of Neurology, Philipps-University Marburg, Rudolf-Bultmann-Strasse 8, 35039 Marburg, Germany.
Jan-Philipp
JP
Bach
Neeraj
N
Kumar
Candan
C
Depboylu
Carmen
C
Noelker
Thomas
T
Klockgether
Michael
M
Bacher
Monika
M
Balzer-Geldsetzer
Richard
R
Dodel
D000328:Adult; D001259:Ataxia / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D027682:Cation Transport Proteins / Q000235:genetics; D003300:Copper / Q000172:deficiency* / Q000378:metabolism; D004252:DNA Mutational Analysis; D003677:Deficiency Diseases / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D012021:Reflex, Abnormal / Q000235:genetics* / Q000502:physiology
D027682:Cation Transport Proteins; D003300:Copper