Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comparative Study
. 2005 Nov;58(5):803-7.
doi: 10.1002/ana.20666.

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex

Grazia Annesi  1 , Giovanni Savettieri, Pierfrancesco Pugliese, Marco D'Amelio, Patrizia Tarantino, Paolo Ragonese, Vincenzo La Bella, Tommaso Piccoli, Donatella Civitelli, Ferdinanda Annesi, Brigida Fierro, Federico Piccoli, Gennarina Arabia, Manuela Caracciolo, Innocenza Claudia Cirò Candiano, Aldo Quattrone
Affiliations
Comparative Study

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex

Grazia Annesi et al. Ann Neurol. 2005 Nov.

Abstract

DJ-1 gene mutations have been found to cause early-onset Parkinson's disease. We report a family from southern Italy with three brothers affected by early-onset parkinsonism, dementia, and amyotrophic lateral sclerosis. Molecular analysis of the DJ-1 gene in two living patients showed a novel homozygous mutation in exon 7 (E163K) and a new homozygous mutation (g.168_185dup) in the promoter region of the gene. Both mutations cosegregated with the disease and were detected in a heterozygous state in the patients' mother and their healthy siblings. Our findings expand the spectrum of clinical presentations associated with mutations in DJ-1 gene.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

  • The distinct genetic pattern of ALS in Turkey and novel mutations.
    Özoğuz A, Uyan Ö, Birdal G, Iskender C, Kartal E, Lahut S, Ömür Ö, Agim ZS, Eken AG, Sen NE, Kavak P, Saygı C, Sapp PC, Keagle P, Parman Y, Tan E, Koç F, Deymeer F, Oflazer P, Hanağası H, Gürvit H, Bilgiç B, Durmuş H, Ertaş M, Kotan D, Akalın MA, Güllüoğlu H, Zarifoğlu M, Aysal F, Döşoğlu N, Bilguvar K, Günel M, Keskin Ö, Akgün T, Özçelik H, Landers JE, Brown RH, Başak AN. Özoğuz A, et al. Neurobiol Aging. 2015 Apr;36(4):1764.e9-1764.e18. doi: 10.1016/j.neurobiolaging.2014.12.032. Epub 2015 Jan 10. Neurobiol Aging. 2015. PMID: 25681989 Free PMC article.
  • Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.
    Moutaoufik MT, Malty R, Amin S, Zhang Q, Phanse S, Gagarinova A, Zilocchi M, Hoell L, Minic Z, Gagarinova M, Aoki H, Stockwell J, Jessulat M, Goebels F, Broderick K, Scott NE, Vlasblom J, Musso G, Prasad B, Lamantea E, Garavaglia B, Rajput A, Murayama K, Okazaki Y, Foster LJ, Bader GD, Cayabyab FS, Babu M. Moutaoufik MT, et al. iScience. 2019 Sep 27;19:1114-1132. doi: 10.1016/j.isci.2019.08.057. Epub 2019 Sep 4. iScience. 2019. PMID: 31536960 Free PMC article.
  • Genetic basis of Parkinson's disease: inheritance, penetrance, and expression.
    Schulte C, Gasser T. Schulte C, et al. Appl Clin Genet. 2011 Jun 1;4:67-80. doi: 10.2147/TACG.S11639. Print 2011. Appl Clin Genet. 2011. PMID: 23776368 Free PMC article.
  • Metals in Alzheimer's and Parkinson's Disease: Relevance to Dementia with Lewy Bodies.
    McAllum EJ, Finkelstein DI. McAllum EJ, et al. J Mol Neurosci. 2016 Nov;60(3):279-288. doi: 10.1007/s12031-016-0809-5. Epub 2016 Aug 8. J Mol Neurosci. 2016. PMID: 27498879 Review.
  • Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
    van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernández-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH Jr, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH. van Es MA, et al. Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Ann Neurol. 2011. PMID: 22190368 Free PMC article. Review.
See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources