Genotype correlation with fine motor symptoms in patients with Wilson's disease.
Wilson's disease, an autosomal recessive disorder of copper metabolism, is caused by about 200 different mutations of the ATP7B gene. Using a genotype-phenotype correlation, 36 patients were examined to see whether the disorder of the automatic handwriting movement depends on the genotype. The findings of this study indicated that no such link exists. Neither the profile of the impairment of the fine motor parameters nor the severity and frequency of pathological findings were different among the three genotype groups (homozygous for H1069Q, compound homozygous for H1069Q and other mutations). By contrast, fine motor disorders were found to correlate with the clinical symptoms recorded when therapy began. The pathophysiology of the basal ganglia and the cerebellar loop therefore cannot be directly attributed to the genotype of the mutation in the ATP7B gene.
Hermann
Wieland
W
Clinic of Neurology, University of Leipzig, Germany. hermw@medizin.uni-leipzig.de
Caca
Karel
K
Eggers
Birk
B
Villmann
Thomas
T
Clark
Daniel
D
Berr
Frieder
F
Wagner
Armin
A
D000251:Adenosine Triphosphatases / Q000235:genetics; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics; D000073840:Copper-Transporting ATPases; D005260:Female; D005838:Genotype; D006236:Handwriting; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009048:Motor Skills; D009154:Mutation; D010641:Phenotype
D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases