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Vagus nerve stimulation in Lafora body disease.

Hajnsek S, Petelin Gadze Z, Borovecki F, Nankovic S, Mrak G, Gotovac K, Sulentic V, Kovacevic I, Bujan Kovac A - Epilepsy Behav Case Rep (2013)

Bottom Line: We confirmed the diagnosis of LBD by genetic testing.After VNS implantation, in the one-year follow-up period, there was a complete reduction of GTCS and SE, significant regression of myoclonus, and moderate regression of cerebellar symptomatology.Further studies with a larger number of patients are needed.

View Article: PubMed Central - PubMed

Affiliation: University Hospital Centre Zagreb and School of Medicine, University of Zagreb, Department of Neurology, Referral Centre for Epilepsy of the Ministry of Health of the Republic of Croatia, Kispaticeva 12, 10000 Zagreb, Croatia.

ABSTRACT

Introduction: Lafora body disease (LBD) is a rare autosomal recessive disorder characterized by progression to inexorable dementia and frequent occipital seizures, in addition to myoclonus and generalized tonic-clonic seizures (GTCSs). It belongs to the group of progressive myoclonus epilepsies (PMEs), rare inherited neurodegenerative diseases with great clinical and genetic differences, as well as poor prognosis. Since those patients have a pharmacoresistant disease, an adjunctive treatment option is vagus nerve stimulation (VNS). To date, there are four reported cases of the utility of VNS in PME - in Unverricht-Lundborg disease (ULD), myoclonic epilepsy with ragged-red fibers (MERRF), Gaucher's disease, and in one case that remained unclassified.

Case presentation: A 19-year-old male patient had progressive myoclonus, GTCSs that often progressed to status epilepticus (SE), progressive cerebellar and extrapyramidal symptomatology, and dementia, and his disease was pharmacoresistant. We confirmed the diagnosis of LBD by genetic testing. After VNS implantation, in the one-year follow-up period, there was a complete reduction of GTCS and SE, significant regression of myoclonus, and moderate regression of cerebellar symptomatology.

Conclusion: To our knowledge, this is the first reported case of the utility of VNS in LBD. Vagus nerve stimulation therapy may be considered a treatment option for different clinical entities of PME. Further studies with a larger number of patients are needed.

No MeSH data available.


Related in: MedlinePlus

Causative mutation for the Lafora body disease in the EPM2B gene c.992delG (homozygous) demonstrated in the patient. Both parents are heterozygous carriers of the EPM2B gene mutation c.992delG.
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f0005: Causative mutation for the Lafora body disease in the EPM2B gene c.992delG (homozygous) demonstrated in the patient. Both parents are heterozygous carriers of the EPM2B gene mutation c.992delG.

Mentions: To confirm putative genetic mutation, genomic DNA was extracted from a peripheral blood sample using a Gentra Puregene Blood DNA purification kit (Qiagen Inc., Valencia, CA, USA). The entire coding and flanking sequences (single exon) of the EPM2B gene were amplified by polymerase chain reaction (PCR). Four primer pairs produced four overlapping PCR fragments spanning the whole EPM2B exon, including the flanking noncoding sequences (Table 1). The amplified fragments were analyzed by agarose gel electrophoresis, purified using the PCR Purification Kit (Qiagen) and sequenced on a 3730XL DNA Analyzer (Applied Biosystems). The results were analyzed with the Mutation Surveyor Software (SoftGenetics). Our analysis identified causative mutation for the LBD in the EPM2B gene c.992delG (homozygous) (Fig. 1). Another polymorphism without clinical relevance was rs10949483 (homozygous). In order to confirm the detected mutation, samples from both parents were analyzed. The analysis determined that both parents were heterozygous carriers of the EPM2B gene mutation c.992delG (Fig. 1).


Vagus nerve stimulation in Lafora body disease.

Hajnsek S, Petelin Gadze Z, Borovecki F, Nankovic S, Mrak G, Gotovac K, Sulentic V, Kovacevic I, Bujan Kovac A - Epilepsy Behav Case Rep (2013)

Causative mutation for the Lafora body disease in the EPM2B gene c.992delG (homozygous) demonstrated in the patient. Both parents are heterozygous carriers of the EPM2B gene mutation c.992delG.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4150640&req=5

f0005: Causative mutation for the Lafora body disease in the EPM2B gene c.992delG (homozygous) demonstrated in the patient. Both parents are heterozygous carriers of the EPM2B gene mutation c.992delG.
Mentions: To confirm putative genetic mutation, genomic DNA was extracted from a peripheral blood sample using a Gentra Puregene Blood DNA purification kit (Qiagen Inc., Valencia, CA, USA). The entire coding and flanking sequences (single exon) of the EPM2B gene were amplified by polymerase chain reaction (PCR). Four primer pairs produced four overlapping PCR fragments spanning the whole EPM2B exon, including the flanking noncoding sequences (Table 1). The amplified fragments were analyzed by agarose gel electrophoresis, purified using the PCR Purification Kit (Qiagen) and sequenced on a 3730XL DNA Analyzer (Applied Biosystems). The results were analyzed with the Mutation Surveyor Software (SoftGenetics). Our analysis identified causative mutation for the LBD in the EPM2B gene c.992delG (homozygous) (Fig. 1). Another polymorphism without clinical relevance was rs10949483 (homozygous). In order to confirm the detected mutation, samples from both parents were analyzed. The analysis determined that both parents were heterozygous carriers of the EPM2B gene mutation c.992delG (Fig. 1).

Bottom Line: We confirmed the diagnosis of LBD by genetic testing.After VNS implantation, in the one-year follow-up period, there was a complete reduction of GTCS and SE, significant regression of myoclonus, and moderate regression of cerebellar symptomatology.Further studies with a larger number of patients are needed.

View Article: PubMed Central - PubMed

Affiliation: University Hospital Centre Zagreb and School of Medicine, University of Zagreb, Department of Neurology, Referral Centre for Epilepsy of the Ministry of Health of the Republic of Croatia, Kispaticeva 12, 10000 Zagreb, Croatia.

ABSTRACT

Introduction: Lafora body disease (LBD) is a rare autosomal recessive disorder characterized by progression to inexorable dementia and frequent occipital seizures, in addition to myoclonus and generalized tonic-clonic seizures (GTCSs). It belongs to the group of progressive myoclonus epilepsies (PMEs), rare inherited neurodegenerative diseases with great clinical and genetic differences, as well as poor prognosis. Since those patients have a pharmacoresistant disease, an adjunctive treatment option is vagus nerve stimulation (VNS). To date, there are four reported cases of the utility of VNS in PME - in Unverricht-Lundborg disease (ULD), myoclonic epilepsy with ragged-red fibers (MERRF), Gaucher's disease, and in one case that remained unclassified.

Case presentation: A 19-year-old male patient had progressive myoclonus, GTCSs that often progressed to status epilepticus (SE), progressive cerebellar and extrapyramidal symptomatology, and dementia, and his disease was pharmacoresistant. We confirmed the diagnosis of LBD by genetic testing. After VNS implantation, in the one-year follow-up period, there was a complete reduction of GTCS and SE, significant regression of myoclonus, and moderate regression of cerebellar symptomatology.

Conclusion: To our knowledge, this is the first reported case of the utility of VNS in LBD. Vagus nerve stimulation therapy may be considered a treatment option for different clinical entities of PME. Further studies with a larger number of patients are needed.

No MeSH data available.


Related in: MedlinePlus