Recurrent and fatal akinetic crisis in genetic‐mitochondrial parkinsonisms. (28th January 2014)

• Record Type: Journal Article
• Authors: Bonanni, L.; Onofrj, M.; Valente, E. M.; Manzoli, L.; De Angelis, M. V.; Capasso, M.; Thomas, A.
• Is Part Of: European journal of neurology. Volume 21:Number 9(2014:Sep.)
• Page Start: 1242
• Page End: 1246
• Publication Date: 2014-01-28
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/ene.12364
• Languages: English
• ISSNs: 1351-5101

Abstract

<abstract abstract-type="main" id="ene12364-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ene12364-sec-0001" sec-type="section"> <title>Background and purpose</title> <p>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.</p> </sec> <sec id="ene12364-sec-0002" sec-type="section"> <title>Methods</title> <p>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.</p> </sec> <sec id="ene12364-sec-0003" sec-type="section"> <title>Results</title> <p>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.</p> </sec> <sec id="ene12364-sec-0004" sec-type="section"> <title>Conclusions</title> <p>Our preliminary findings suggest that the incidence of AC is remarkably increased in carriers of these genetic mutations.</p> </sec> </abstract>