Literature DB >> 16737839

Three sisters with very-late-onset major depression and parkinsonism.

GianPietro Sechi1, Giovanni Antonio Cocco, Alessandra Errigo, Luca Deiana, Giulio Rosati, Virgilio Agnetti, Kay Stephen Paulus, Giovanni Mario Pes.   

Abstract

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.

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Year:  2006        PMID: 16737839     DOI: 10.1016/j.parkreldis.2006.03.009

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


  7 in total

1.  Age-dependent decline of copper clearance at the blood-cerebrospinal fluid barrier.

Authors:  Luke L Liu; David Du; Wei Zheng; Yanshu Zhang
Journal:  Neurotoxicology       Date:  2021-10-27       Impact factor: 4.294

2.  Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.

Authors:  Francesc Palau; Janet Hoenicka; Estela Pérez-Santamarina; Pedro García-Ruiz; Dolores Martínez-Rubio; Mario Ezquerra; Irene Pla-Navarro; Jorge Puente; María José Martí
Journal:  Sci Rep       Date:  2021-05-10       Impact factor: 4.996

Review 3.  Copper and copper proteins in Parkinson's disease.

Authors:  Sergio Montes; Susana Rivera-Mancia; Araceli Diaz-Ruiz; Luis Tristan-Lopez; Camilo Rios
Journal:  Oxid Med Cell Longev       Date:  2014-01-08       Impact factor: 6.543

Review 4.  Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders.

Authors:  Sarah van Veen; Danny M Sørensen; Tine Holemans; Henrik W Holen; Michael G Palmgren; Peter Vangheluwe
Journal:  Front Mol Neurosci       Date:  2014-05-27       Impact factor: 5.639

5.  Case of Early-Onset Parkinson's Disease in a Heterozygous Mutation Carrier of the ATP7B Gene.

Authors:  Ekaterina Y Ilyechova; Irina V Miliukhina; Marina N Karpenko; Iurii A Orlov; Ludmila V Puchkova; Sergey A Samsonov
Journal:  J Pers Med       Date:  2019-08-17

Review 6.  Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.

Authors:  Olivier Bonnot; Hans Hermann Klünemann; Frederic Sedel; Sylvie Tordjman; David Cohen; Mark Walterfang
Journal:  Orphanet J Rare Dis       Date:  2014-04-28       Impact factor: 4.123

Review 7.  Parkinson's Disease and Metal Storage Disorders: A Systematic Review.

Authors:  Edward Botsford; Jayan George; Ellen E Buckley
Journal:  Brain Sci       Date:  2018-10-31
  7 in total

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