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A53T in a parkinsonian family: a clinical update of the SNCA phenotypes

  • Neurology and Preclinical Neurological Studies - Short communication
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Abstract

Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5–10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. Here, we report on a family carrying the A53T SNCA mutation and we review SNCA mutation phenotypes by comparing point mutations within each other as well as with duplication and triplication.

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Authors and Affiliations

  1. Clinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy

    Nicola Tambasco, Pasquale Nigro, Michele Romoli, Simone Simoni & Paolo Calabresi

  2. Servizio di Genetica Medica, Azienda Ospedaliera di Perugia, Perugia, Italy

    Paolo Prontera

  3. I.R.C.C.S. Fondazione S.Lucia, Rome, Italy

    Paolo Calabresi

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  1. Nicola Tambasco
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  2. Pasquale Nigro
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  3. Michele Romoli
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  4. Paolo Prontera
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  5. Simone Simoni
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  6. Paolo Calabresi
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Correspondence to Nicola Tambasco.

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Tambasco, N., Nigro, P., Romoli, M. et al. A53T in a parkinsonian family: a clinical update of the SNCA phenotypes. J Neural Transm 123, 1301–1307 (2016). https://doi.org/10.1007/s00702-016-1578-6

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  • DOI: https://doi.org/10.1007/s00702-016-1578-6

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