Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms.
Eur J Neurol
; 21(9): 1242-6, 2014 Sep.
Article
en En
| MEDLINE
| ID: mdl-24471704
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.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Trastornos Parkinsonianos
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Mitocondrias
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Mutación
Tipo de estudio:
Etiology_studies
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Incidence_studies
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Observational_studies
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Risk_factors_studies
Límite:
Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Año:
2014
Tipo del documento:
Article