<i>POLG</i>
            mutations in neurodegenerative disorders with ataxia but no muscle involvement

Goethem, Gert Van; Luoma, Petri; Rantamäki, Maria; Memar, A Al; Kaakkola, Seppo; Hackman, Peter; Krahe, Ralf; Löfgren, A.; Martin, J.J.; Jonghe, Peter De; Suomalainen, Anu; Udd, Bjarne; Broeckhoven, Christine Van

doi:10.1212/01.wnl.0000140494.58732.83

Cited by 233 publications

(232 citation statements)

References 35 publications

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“…42 Epilepsy, myopathy, MRI abnormalities, and ragged red fibers have all been reported in association with sensory ataxia, neuropathy, dysarthria, and ophthalmoplegia.…”

Section: Reviewmentioning

confidence: 99%

Hereditary ataxias: overview

Jayadev

Bird

2013

Genetics in Medicine

232

172

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“…42 Epilepsy, myopathy, MRI abnormalities, and ragged red fibers have all been reported in association with sensory ataxia, neuropathy, dysarthria, and ophthalmoplegia.…”

Section: Reviewmentioning

confidence: 99%

Hereditary ataxias: overview

Jayadev

Bird

2013

Genetics in Medicine

232

172

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“…Refractory seizures lead to progressive encephalopathy similar to other POLG-related disorders. The lack of ragged red fibers from muscle biopsy helps distinguish this from the closely related clinical syndrome of myoclonic epilepsy with ragged red fibers [65].…”

Section: Myoclonic Epilepsy Myopathy Sensory Ataxiamentioning

confidence: 99%

Mitochondrial Disease in Childhood: Nuclear Encoded

2013

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Primary mitochondrial disorders are clinically and genetically heterogeneous, caused by an alteration(s) in either mitochondrial DNA or nuclear DNA, and affect the respiratory chain's ability to undergo oxidative phosphorylation, leading to decreased production of adenosine triphosphophate and subsequent energy failure. These disorders may present at any age, but children tend to have an acute onset of disease compared with subacute or slowly progressive presentation in adults. Varying organ involvement also contributes to the phenotypic spectrum seen in these disorders. The childhood presentation of primary mitochondrial disease is mainly due to nuclear DNA mutations, with mitochondrial DNA mutations being less frequent in childhood and more prominent in adulthood disease. The clinician should be aware of the pediatric presentation of mitochondrial disease and have an understanding of the myriad of nuclear genes responsible for these disorders. The nuclear genes can be best understood by utilizing a classification system of location and function within the mitochondria.

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“…Mutations in POLG are associated with a variety of clinical phenotypes, which includes Alpers disease, parkinsonism, and external progressive ophthalmoplegia 18 . Two similar forms of autosomal recessive ataxias are associated with mutations in POLG: Mithocondrial Recessive Ataxic Syndrome (MIRAS) and Sensory Ataxia, Neuropathy, Dysarthria, and Ophthalmoplegia (SANDO) 18,19 .…”

Section: Ataxia With Mutation In Polymerase Gammamentioning

confidence: 99%

“…Clinical manifestations, which start between 5 to 40 years of age, are characterized by cerebellar ataxia, nystagmus, dysarthria, ophthalmoplegia, tremor, cognitive decline, and myoclonus. Loss of vibratory and position perception is commonly seen 19,20 . Epilepsy is a frequent manifestation in MIRAS, but not in SANDO, with both partial and generalized seizures, sometimes becoming refractory to antiepileptic drugs and evolving to status epilepticus [18][19][20] .…”

Section: Ataxia With Mutation In Polymerase Gammamentioning

confidence: 99%

“…Epilepsy is a frequent manifestation in MIRAS, but not in SANDO, with both partial and generalized seizures, sometimes becoming refractory to antiepileptic drugs and evolving to status epilepticus [18][19][20] . Brain MRI discloses cerebellar atrophy and T2 weighed hypersignal on thalamus, and dentate and inferior olivary nuclei 19,20 . Nerve conduction studies also demonstrate axonal sensory neuropathy 19,20 .…”

Section: Ataxia With Mutation In Polymerase Gammamentioning

confidence: 99%

See 1 more Smart Citation

Autosomal recessive ataxias: 20 types, and counting

Embiruçu

Martyn

Schlesinger

et al. 2009

Arq. Neuro-Psiquiatr.

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-More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in Neurogenetics. Currently this group of diseases contains more than 20 clinical entities and an even larger number of associated genes. Some disorders are very rare, restricted to isolated populations, and others are found worldwide. An expressive number of recessive ataxias are treatable, and responsibility for an accurate diagnosis is high. The purpose of this review is to update the practitioner on clinical and pathophysiological aspects of these disorders and to present an algorithm to guide the diagnosis.KEY WORDS: autosomal recessive ataxias, cerebellar ataxia, cerebellum, Friedreich ataxia.Ataxias autossômicas recessivas: 20 tipos e muito mais resumo -Mais de 140 anos após a primeira descrição da ataxia de Friedreich, as ataxias autossômicas recessivas se transformaram em um dos mais complexos campos da Neurogenética. Atualmente, este grupo de doenças é composto por mais de 20 entidades clínicas e possui um número ainda maior de genes associados. Algumas doenças são muito raras, tendo sido observadas apenas em populações isoladas, enquanto que outras são encontradas no mundo todo. Um número expressivo de ataxias é tratável, e a responsabilidade em se fazer um diagnóstico correto é alta. A finalidade desta revisão é a de atualizar o neurologista a respeito dos principais aspectos clínicos e fisiopatológicos destas doenças e de apresentar um algoritmo para auxiliar a sua investigação e o seu diagnóstico.

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POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

Cited by 233 publications

References 35 publications

Hereditary ataxias: overview

Hereditary ataxias: overview

Mitochondrial Disease in Childhood: Nuclear Encoded

Autosomal recessive ataxias: 20 types, and counting

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