Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?

Willem MA Verhoeven1,2, Jos IM Egger1,3,4, Berry PH Kremer5, Boudewijn JHB de Pont1, Carlo LM Marcelis61Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; 2Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, The Netherlan...

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Autores principales:	Verhoeven WMA, Egger JIM, Kremer BPH, de Pont BJHB, Marcelis CLM
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2011
Materias:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/9d01162a9c604f26ac9b77d4f4b351f2
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spelling	oai:doaj.org-article:9d01162a9c604f26ac9b77d4f4b351f22021-12-02T01:40:05ZRecurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?1176-63281178-2021https://doaj.org/article/9d01162a9c604f26ac9b77d4f4b351f22011-05-01T00:00:00Zhttp://www.dovepress.com/recurrent-major-depression-ataxia-and-cardiomyopathy-association-with--a7467https://doaj.org/toc/1176-6328https://doaj.org/toc/1178-2021Willem MA Verhoeven1,2, Jos IM Egger1,3,4, Berry PH Kremer5, Boudewijn JHB de Pont1, Carlo LM Marcelis61Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; 2Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, The Netherlands; 3Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, The Netherlands; 4Donders Institute for Brain, Cognition and Behaviour, Centre for Cognition, Radboud University Nijmegen, Nijmegen, The Netherlands; 5Department of Neurology, University Medical Centre Groningen, The Netherlands; 6Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The NetherlandsAbstract: At present, more than 100 disease mutations in mitochondrial DNA polymerase &gamma; (POLG) have been indentified that are causally related to an array of neuropsychiatric diseases affecting multiple systems. Both autosomal recessive and autosomal dominant forms can be delineated, the latter being associated with Parkinsonism and depressive or psychotic syndromes. In this report, a middle-aged female patient with recurrent major depression with melancholic features, slowly progressive gait instability, and dilated cardiomyopathy is described. Detailed diagnostic evaluation was performed to elucidate the supposed relationship between ataxia, cardiomyopathy, and major depression with melancholia. After extensive genetic and metabolic investigation, a nucleotide substitution c.2207 A&rarr;G in the POLG gene resulting in amino acid change Asn 736Ser in exon 13 was demonstrated. This mutation was considered to be compatible with a mitochondrial disorder and implicated in the pathophysiology of the neuropsychiatric syndrome. It is concluded that this novel POLG mutation forms the most parsimonious etiological explanation for the here-described combination of ataxia, major depression, and cardiomyopathy. Therefore, in patients with a complex neuropsychiatric presentation, extensive diagnostic analysis is warranted, including the search for mitochondriopathies, in order to avoid unnecessary delay of adequate treatment.Keywords: DNA polymerase &gamma;, mitochondrial disease, cerebellar ataxia, major depressionVerhoeven WMAEgger JIMKremer BPHde Pont BJHBMarcelis CLMDove Medical PressarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol 2011, Iss Issue 1, Pp 293-296 (2011)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Verhoeven WMA Egger JIM Kremer BPH de Pont BJHB Marcelis CLM Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?
description	Willem MA Verhoeven1,2, Jos IM Egger1,3,4, Berry PH Kremer5, Boudewijn JHB de Pont1, Carlo LM Marcelis61Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; 2Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, The Netherlands; 3Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, The Netherlands; 4Donders Institute for Brain, Cognition and Behaviour, Centre for Cognition, Radboud University Nijmegen, Nijmegen, The Netherlands; 5Department of Neurology, University Medical Centre Groningen, The Netherlands; 6Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The NetherlandsAbstract: At present, more than 100 disease mutations in mitochondrial DNA polymerase &gamma; (POLG) have been indentified that are causally related to an array of neuropsychiatric diseases affecting multiple systems. Both autosomal recessive and autosomal dominant forms can be delineated, the latter being associated with Parkinsonism and depressive or psychotic syndromes. In this report, a middle-aged female patient with recurrent major depression with melancholic features, slowly progressive gait instability, and dilated cardiomyopathy is described. Detailed diagnostic evaluation was performed to elucidate the supposed relationship between ataxia, cardiomyopathy, and major depression with melancholia. After extensive genetic and metabolic investigation, a nucleotide substitution c.2207 A&rarr;G in the POLG gene resulting in amino acid change Asn 736Ser in exon 13 was demonstrated. This mutation was considered to be compatible with a mitochondrial disorder and implicated in the pathophysiology of the neuropsychiatric syndrome. It is concluded that this novel POLG mutation forms the most parsimonious etiological explanation for the here-described combination of ataxia, major depression, and cardiomyopathy. Therefore, in patients with a complex neuropsychiatric presentation, extensive diagnostic analysis is warranted, including the search for mitochondriopathies, in order to avoid unnecessary delay of adequate treatment.Keywords: DNA polymerase &gamma;, mitochondrial disease, cerebellar ataxia, major depression
format	article
author	Verhoeven WMA Egger JIM Kremer BPH de Pont BJHB Marcelis CLM
author_facet	Verhoeven WMA Egger JIM Kremer BPH de Pont BJHB Marcelis CLM
author_sort	Verhoeven WMA
title	Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?
title_short	Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?
title_full	Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?
title_fullStr	Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?
title_full_unstemmed	Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?
title_sort	recurrent major depression, ataxia, and cardiomyopathy: association with a novel polg mutation?
publisher	Dove Medical Press
publishDate	2011
url	https://doaj.org/article/9d01162a9c604f26ac9b77d4f4b351f2
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_version_	1718402974565269504

Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?

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