Three sisters with very-late-onset major depression and parkinsonism.
Familiar Parkinson's disease has an age of onset from the second to the sixth decade, whereas Wilson's disease (WD) usually presents in the first decade of life. We studied three sisters with a form of very-late-onset major depression and parkinsonism with probable linkage to ATP7B gene. Molecular studies demonstrated a nucleotide deletion at the 5'UTR region in a single allele of ATP7B gene. They did not have a family history of WD, or markers indicative for copper deposition in peripheral tissues. We suggest that single allele mutations of ATP7B gene may confer a susceptibility for late-onset major depression and parkinsonism.
Sechi
GianPietro
G
Institute of Neurology, University of Sassari, Sassari, Italy. gpsechi@uniss.it
Antonio Cocco
Giovanni
G
Errigo
Alessandra
A
Deiana
Luca
L
Rosati
Giulio
G
Agnetti
Virgilio
V
Stephen Paulus
Kay
K
Mario Pes
Giovanni
G
D020121:5' Untranslated Regions / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000235:genetics; D017668:Age of Onset; D000368:Aged; D027682:Cation Transport Proteins / Q000235:genetics; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis / Q000379:methods; D003865:Major Depressive Disorder / Q000150:complications* / Q000235:genetics; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000235:genetics; D006801:Humans; D009154:Mutation; D010300:Parkinson Disease / Q000150:complications* / Q000235:genetics; D035781:Siblings
D020121:5' Untranslated Regions; D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases