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Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms

Authors

  • L. Bonanni,

    1. Neurology Clinic, Ospedale Clinicizzato, Chieti, Italy
    2. Department of Neuroscience and Imaging, Aging Research Center, University G. d'Annunzio of Chieti-Pescara, Chieti, Italy
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  • M. Onofrj,

    1. Neurology Clinic, Ospedale Clinicizzato, Chieti, Italy
    2. Department of Neuroscience and Imaging, Aging Research Center, University G. d'Annunzio of Chieti-Pescara, Chieti, Italy
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  • E. M. Valente,

    1. Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy
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  • L. Manzoli,

    1. Section of Epidemiology, Department of Medicine and Aging, University G. d'Annunzio of Chieti-Pescara, Chieti, Italy
    2. Regional Healthcare Agency of Abruzzo, Abruzzo, Italy
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  • M. V. De Angelis,

    1. Neurology Clinic, Ospedale Clinicizzato, Chieti, Italy
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  • M. Capasso,

    1. Neurology Clinic, Ospedale Clinicizzato, Chieti, Italy
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  • A. Thomas

    Corresponding author
    1. Neurology Clinic, Ospedale Clinicizzato, Chieti, Italy
    2. Department of Neuroscience and Imaging, Aging Research Center, University G. d'Annunzio of Chieti-Pescara, Chieti, Italy
    • Correspondence: A. Thomas, Department of Neuroscience and Imaging, University G. d'Annunzio of Chieti-Pescara, Via dei Vestini, 66100 Chieti, Italy (tel.: +390871358525; fax: +390871562019; e-mail: athomas@unich.it).

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Abstract

Background and purpose

Akinetic crisis (AC) is the most severe and possibly lethal complication of parkinsonism. It occurs with an incidence of 3‰ Parkinson's disease patients per year, but it is not known whether genetically determined parkinsonism is more or less susceptible to this complication.

Methods

In a cohort of 756 parkinsonian patients the incidence and outcome of AC was prospectively assessed. A total of 142 of the parkinsonian patients were tested for genetic mutations because of familial parkinsonism, and 20 patients resulted positive: in four the mutation definitely involved mitochondrial functions (POLG1, PINK1), two presented with LRRK2 mutation, nine presented with GBA mutation and five presented with Park 4 different mutations.

Results

Akinetic crisis occurred in 30 patients for an incidence of 2.8‰ persons/year and was lethal in seven (23%), not dissimilarly from known incidences of this complication. Yet six of 30 patients were carriers of genetic mutations, one GBA, one LRRK2, one POLG1 and three PINK1. In POLG1 and PINK1 carriers, the syndrome was recurrent and was fatal in three. Incidence of AC was 3.0‰ in familiar parkinsonism, 21.2‰ in genetic parkinsonisms.

Conclusions

Our preliminary findings suggest that the incidence of AC is remarkably increased in carriers of these genetic mutations.

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