Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report

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3 Citations (Scopus)

Abstract

Lafora disease (LD), also known as progressive myoclonic epilepsy-2 (EPM2), is a rare, fatal autosomal recessive disorder typically starting during adolescence in otherwise neurologically normal individuals. It is clinically characterized by insidious of progressive neurological features including seizures, action myoclonus, visual hallucination, ataxia and dementia. Mutations in the laforin (EPM2A) gene on chromosome 6q24 or in the malin gene (NHLRC1) on chromosome 6p22 are responsible of LD phenotype. Diagnostic workup includes genetic analysis as well as axillary skin biopsy with evidence of typical periodic acid-Schiff (PAS)-positive polyglucosan inclusion bodies (Lafora bodies) in the apocrine glands and/or in the eccrine duct. Usually, genotype–phenotype correlations do not reveal substantial differences between patients carrying EPM2A and NHLRC1 mutations, but a few specific NHLRC1 mutations appear to correlate with a late onset and slow progressing LD. We report a case of LD due to compound heterozygote NHLRC1 mutation in an adolescent presenting with severe and atypical electro-clinical features, mimicking an autoimmune encephalopathy, and a rapidly progressive clinical course.

Original languageEnglish
Pages (from-to)1150-1153
Number of pages4
JournalInternational Journal of Neuroscience
Volume127
Issue number12
DOIs
Publication statusPublished - Dec 2 2017

Fingerprint

Lafora Disease
Mutation
Chromosomes
Apocrine Glands
Myoclonus
Periodic Acid
Hallucinations
Inclusion Bodies
Brain Diseases
Ataxia
Heterozygote
Genes
Dementia
Seizures
Phenotype
Biopsy
Skin

Keywords

  • autoimmune encephalitis
  • EEG
  • epilepsy
  • extreme delta brush
  • Lafora disease
  • Progressive myoclonic epilepsy

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

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title = "Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report",
abstract = "Lafora disease (LD), also known as progressive myoclonic epilepsy-2 (EPM2), is a rare, fatal autosomal recessive disorder typically starting during adolescence in otherwise neurologically normal individuals. It is clinically characterized by insidious of progressive neurological features including seizures, action myoclonus, visual hallucination, ataxia and dementia. Mutations in the laforin (EPM2A) gene on chromosome 6q24 or in the malin gene (NHLRC1) on chromosome 6p22 are responsible of LD phenotype. Diagnostic workup includes genetic analysis as well as axillary skin biopsy with evidence of typical periodic acid-Schiff (PAS)-positive polyglucosan inclusion bodies (Lafora bodies) in the apocrine glands and/or in the eccrine duct. Usually, genotype–phenotype correlations do not reveal substantial differences between patients carrying EPM2A and NHLRC1 mutations, but a few specific NHLRC1 mutations appear to correlate with a late onset and slow progressing LD. We report a case of LD due to compound heterozygote NHLRC1 mutation in an adolescent presenting with severe and atypical electro-clinical features, mimicking an autoimmune encephalopathy, and a rapidly progressive clinical course.",
keywords = "autoimmune encephalitis, EEG, epilepsy, extreme delta brush, Lafora disease, Progressive myoclonic epilepsy",
author = "Sara Casciato and Stefano Gambardella and Addolorata Mascia and Quarato, {Pier Paolo} and Alfredo D'Aniello and Yana Ackurina and Veronica Albano and Francesco Fornai and Simona Scala and {Di Gennaro}, Giancarlo",
year = "2017",
month = "12",
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doi = "10.1080/00207454.2017.1337012",
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TY - JOUR

T1 - Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation

T2 - a case report

AU - Casciato, Sara

AU - Gambardella, Stefano

AU - Mascia, Addolorata

AU - Quarato, Pier Paolo

AU - D'Aniello, Alfredo

AU - Ackurina, Yana

AU - Albano, Veronica

AU - Fornai, Francesco

AU - Scala, Simona

AU - Di Gennaro, Giancarlo

PY - 2017/12/2

Y1 - 2017/12/2

N2 - Lafora disease (LD), also known as progressive myoclonic epilepsy-2 (EPM2), is a rare, fatal autosomal recessive disorder typically starting during adolescence in otherwise neurologically normal individuals. It is clinically characterized by insidious of progressive neurological features including seizures, action myoclonus, visual hallucination, ataxia and dementia. Mutations in the laforin (EPM2A) gene on chromosome 6q24 or in the malin gene (NHLRC1) on chromosome 6p22 are responsible of LD phenotype. Diagnostic workup includes genetic analysis as well as axillary skin biopsy with evidence of typical periodic acid-Schiff (PAS)-positive polyglucosan inclusion bodies (Lafora bodies) in the apocrine glands and/or in the eccrine duct. Usually, genotype–phenotype correlations do not reveal substantial differences between patients carrying EPM2A and NHLRC1 mutations, but a few specific NHLRC1 mutations appear to correlate with a late onset and slow progressing LD. We report a case of LD due to compound heterozygote NHLRC1 mutation in an adolescent presenting with severe and atypical electro-clinical features, mimicking an autoimmune encephalopathy, and a rapidly progressive clinical course.

AB - Lafora disease (LD), also known as progressive myoclonic epilepsy-2 (EPM2), is a rare, fatal autosomal recessive disorder typically starting during adolescence in otherwise neurologically normal individuals. It is clinically characterized by insidious of progressive neurological features including seizures, action myoclonus, visual hallucination, ataxia and dementia. Mutations in the laforin (EPM2A) gene on chromosome 6q24 or in the malin gene (NHLRC1) on chromosome 6p22 are responsible of LD phenotype. Diagnostic workup includes genetic analysis as well as axillary skin biopsy with evidence of typical periodic acid-Schiff (PAS)-positive polyglucosan inclusion bodies (Lafora bodies) in the apocrine glands and/or in the eccrine duct. Usually, genotype–phenotype correlations do not reveal substantial differences between patients carrying EPM2A and NHLRC1 mutations, but a few specific NHLRC1 mutations appear to correlate with a late onset and slow progressing LD. We report a case of LD due to compound heterozygote NHLRC1 mutation in an adolescent presenting with severe and atypical electro-clinical features, mimicking an autoimmune encephalopathy, and a rapidly progressive clinical course.

KW - autoimmune encephalitis

KW - EEG

KW - epilepsy

KW - extreme delta brush

KW - Lafora disease

KW - Progressive myoclonic epilepsy

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