Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms

L. Bonanni, M. Onofrj, E. M. Valente, L. Manzoli, M. V. De Angelis, M. Capasso, A. Thomas

Research output: Contribution to journalArticle

11 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1242-1246
Number of pages5
JournalEuropean Journal of Neurology
Volume21
Issue number9
DOIs
Publication statusPublished - 2014

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Parkinsonian Disorders
Mutation
Incidence
Heterozygote

Keywords

  • Akinetic crisis
  • Genetic parkinsonism
  • Malignant syndrome
  • Mitochondria

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Cite this

Bonanni, L., Onofrj, M., Valente, E. M., Manzoli, L., De Angelis, M. V., Capasso, M., & Thomas, A. (2014). Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms. European Journal of Neurology, 21(9), 1242-1246. https://doi.org/10.1111/ene.12364

Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms. / Bonanni, L.; Onofrj, M.; Valente, E. M.; Manzoli, L.; De Angelis, M. V.; Capasso, M.; Thomas, A.

In: European Journal of Neurology, Vol. 21, No. 9, 2014, p. 1242-1246.

Research output: Contribution to journalArticle

Bonanni, L, Onofrj, M, Valente, EM, Manzoli, L, De Angelis, MV, Capasso, M & Thomas, A 2014, 'Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms', European Journal of Neurology, vol. 21, no. 9, pp. 1242-1246. https://doi.org/10.1111/ene.12364
Bonanni L, Onofrj M, Valente EM, Manzoli L, De Angelis MV, Capasso M et al. Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms. European Journal of Neurology. 2014;21(9):1242-1246. https://doi.org/10.1111/ene.12364
Bonanni, L. ; Onofrj, M. ; Valente, E. M. ; Manzoli, L. ; De Angelis, M. V. ; Capasso, M. ; Thomas, A. / Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms. In: European Journal of Neurology. 2014 ; Vol. 21, No. 9. pp. 1242-1246.
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AB - 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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