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Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up

Authors

  • Sharon Hassin-Baer MD,

    1. The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel
    2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • Nobutaka Hattori MD, PhD,

    1. Department of Neurology, Juntendo University Medical School, Tokyo, Japan
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  • Oren S. Cohen MD,

    1. The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel
    2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • Magdalena Massarwa MD,

    1. The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel
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  • Simon D. Israeli-Korn MA, MRCP (UK),

    1. The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel
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  • Rivka Inzelberg MD

    Corresponding author
    1. The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel
    2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    • The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, 52621, Israel

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  • Relevant conflicts of interest/financial disclosure: Nothing to report. Full financial disclosures and author roles can be found in the online version of this article.

Abstract

Background:

We describe the four decades follow-up of 14 parkin patients belonging to two large eight-generation-long in-bred Muslim-Arab kindreds.

Results:

All patients had a single base-pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition.

Conclusions:

The 202A deletion of the parkin gene causes early-onset Parkinson's disease with marked levodopa/STN-DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society

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