Progressive Myoclonus Epilepsy With Demyelinating Peripheral Neuropathy and Preserved Intellect

Costello, Daniel J.; Chiappa, Keith H.; Siao, Peter

doi:10.1001/archneurol.2009.131

Cited by 7 publications

(4 citation statements)

References 6 publications

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“…Note added in proof: A recent report on a patient with PME and a demyelinating neuropathy affirmed our finding that polyneuropathy belongs to phenotype spectrum of SCARB2 mutation [18,19]. …”

Section: Discussionsupporting

confidence: 77%

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features

et al. 2011

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BackgroundAction myoclonus-renal failure syndrome is a hereditary form of progressive myoclonus epilepsy associated with renal failure. It is considered to be an autosomal-recessive disease related to loss-of-function mutations in SCARB2. We studied a German AMRF family, additionally showing signs of demyelinating polyneuropathy and dilated cardiomyopathy.To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features.MethodsIn the AMRF family all exons of SCARB2 were analyzed by Sanger sequencing. The mutation screening of unrelated patients with isolated AMRF features affected by either epilepsy (n = 103, progressive myoclonus epilepsy or generalized epilepsy), demyelinating polyneuropathy (n = 103), renal failure (n = 192) or dilated cardiomyopathy (n = 85) was performed as high resolution melting curve analysis of the SCARB2 exons.ResultsA novel homozygous 1 bp deletion (c.111delC) in SCARB2 was found by sequencing three affected homozygous siblings of the affected family. A heterozygous sister showed generalized seizures and reduction of nerve conduction velocity in her legs. No mutations were found in the epilepsy, renal failure or dilated cardiomyopathy samples. In the polyneuropathy sample two individuals with demyelinating disease were found to be carriers of a SCARB2 frameshift mutation (c.666delCCTTA).ConclusionsOur findings indicate that demyelinating polyneuropathy and dilated cardiomyopathy are part of the action myoclonus-renal failure syndrome. Moreover, they raise the possibility that in rare cases heterozygous SCARB2 mutations may be associated with PNP features.

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Section: Discussionsupporting

confidence: 77%

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features

et al. 2011

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“…4,5 A case report recently published in the Archives described a patient with PME, preserved intellect, and a nonprogressive generalizeddemyelinatingneuropathy. 6 Thecase wasextensivelyinvestigatedandnocausewas found, so a novel syndrome was proposed. A diagnosis of AMRF was considered but the absence of renal impairment precluded the diagnosis clinically and the molecular cause was not known at the time of publication.…”

Section: Olecular Genetics Hasmentioning

confidence: 99%

“…6 He was severely disabled with action myoclonus, requiring a wheelchair at 20 years of age. Since then, his condition has continued to deteriorate, with worsening intractable myoclonus, dysarthria, and dysphagia, difficulties managing his secretions, and full dependence in his everyday activities.…”

Section: Report Of a Casementioning

confidence: 99%

“…3,11 The data previously published on this case demonstrates the longitudinal stability of electrophysiological abnormalities, consistent with a demyelinating neuropathy. 6 Thus electrophysiological evidence of a demyelinating neuropathy can be a clinical clue to the presence of a SCARB2 mutation, whose identification is very important in terms of prognosis and genetic counseling. SCARB2 encodes a lysosomal membrane protein that is a member of the CD36 family of scavenger receptors.…”

Section: Commentmentioning

confidence: 99%

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Mutation of SCARB2 in a Patient With Progressive Myoclonus Epilepsy and Demyelinating Peripheral Neuropathy

Dibbens¹,

Karakis²,

Bayly³

et al. 2011

Arch Neurol

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Myoclonus in the elderly: A retrospective analysis of clinical and electrophysiological characteristics of patients referred to an electrophysiology laboratory

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et al. 2018

Parkinsonism & Related Disorders

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Progressive Myoclonus Epilepsy With Demyelinating Peripheral Neuropathy and Preserved Intellect

Abstract: Background:The progressive myoclonic epilepsies (PMEs) are a disparate group of syndromes whose common features include disabling myoclonus, progressive cognitive decline, and seizures, typically with a relentless deterioration over time.

Cited by 7 publications

References 6 publications

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features

Mutation of SCARB2 in a Patient With Progressive Myoclonus Epilepsy and Demyelinating Peripheral Neuropathy

Myoclonus in the elderly: A retrospective analysis of clinical and electrophysiological characteristics of patients referred to an electrophysiology laboratory

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