Longitudinal EEG Studies in a Kindred with Lafora Disease

Yen, C.; Beydoun, Ahmad; Drury, Ivo

doi:10.1111/j.1528-1157.1991.tb05548.x

Cited by 16 publications

(12 citation statements)

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“…The characteristic electroencephalogram (EEG) findings in human patients with early LD include generalized spikes/polyspikes or spike-wave complexes on a slow background activity, during both wakefulness and sleep (15)(16)(17). As the disease progresses, the epileptiform activity increases, along with the frequency of the spike-wave complexes and the number of short-duration polyspikes.…”

Section: Introductionmentioning

confidence: 99%

EEG Patterns Orienting to Lafora Disease Diagnosis—A Case Report in Two Beagles

Demeny

Florea²,

Tăbăran

et al. 2020

Front. Vet. Sci.

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Lafora Disease (LD) is a rare, fatal, late-onset, progressive form of myoclonic epilepsy, occurring in humans and dogs. Clinical manifestations of LD usually include seizures, spontaneous and reflex myoclonus with contractions of the neck and limb muscles. We studied the electroencephalogram (EEG) patterns of two beagles in whom LD was subsequently confirmed by genetic testing. In both cases, the EEG recordings, accompanied by electromyography (EMG), have shown similar uncommon patterns. The hypovoltaged background rhythm was interrupted by waxing "crescendo" polyspikes-slow wave complexes appearing 80-250 ms after the start of intermittent photic stimulation, followed by myoclonic jerks after 80-150 ms. This study highlights the value of EEG in establishing a presumptive diagnosis of LD in dogs.

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Section: Introductionmentioning

confidence: 99%

EEG Patterns Orienting to Lafora Disease Diagnosis—A Case Report in Two Beagles

Demeny

Florea²,

Tăbăran

et al. 2020

Front. Vet. Sci.

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“…In longitudinal EEG studies, the spike and wave pattern changes from a slow frequency of 3 Hz in the early stages to faster frequencies of 6-12 Hz as the disease progresses. [ 1 8 ] Periodicity in EEG changes has not been frequently described in LBD and other progressive myoclonic epilepsy syndromes. Riehl et al .…”

Section: Discussionmentioning

confidence: 99%

“…Lafora body disease (LBD) is a progressive myoclonic epilepsy, presenting with seizures, myoclonic jerks, cognitive decline, and ataxia. [ 1 ] It is an autosomal recessive fatal disorder characterized by the presence of intracellular polyglucosan inclusions in the neurons, heart, skeletal muscle, liver, and sweat gland duct cells called Lafora bodies. It usually starts in the age of adolescence.…”

Section: Introductionmentioning

confidence: 99%

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Periodic electroencephalogram discharges in a case of Lafora body disease: An unusual finding

Jain¹,

Gupta²,

Gupta³

2016

Ann Indian Acad Neurol

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Lafora body disease (LBD) is a form of progressive myoclonic epilepsy, characterized by seizures, myoclonic jerks, cognitive decline, ataxia, and intracellular polyglucosan inclusion bodies (Lafora bodies) in the neurons, heart, skeletal muscle, liver, and sweat gland duct cells. Electroencephalogram (EEG) findings in LBD may include multiple spikes and wave discharges, photosensitivity, multifocal epileptiform discharges, and progressive slowing in background activity. Periodicity in epileptiform discharges has not been frequently depicted in LBD. We herein report an unusual case of LBD who showed generalized periodic epileptiform discharges in EEG.

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“…Pode ocorrer atividade irritativa sob a forma de paroxismos generalizados de pontas, polipontas, ondas agudas e complexos ponta-onda, bem como ondas lentas, mesclados em combinações variáveis. Podem ser evidenciados paroxismos focais, bem como aumento na frequência das descargas à fotoestimulação intermitente a mais que 15 Hz 2,10,15 . Embora os potenciais evocados auditivos tenham sido descritos como normais, PESSgigantes já foram relatados em alguns pacientes 2 .…”

Section: Discussionunclassified

Doença de Lafora e distúrbios do movimento: relato de dois casos

Quadros¹,

Sá²,

Kowacs

et al. 2000

Arq. Neuro-Psiquiatr.

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RESUMO -Relatamos dois casos de doença de Lafora que apresentaram distúrbios do movimento, ataxia cerebelar, disartria e fenômeno do "susto exagerado", como manifestações clínicas iniciais. Estes sintomas precederam as convulsões, mioclonias e a demência progressiva. O diagnóstico foi confirmado pela identificação de corpos de inclusão, PAS positivo, na biópsia de pele de ambos os casos. Os pacientes relatados apresentam uma progressão lenta da doença, o que é incomum, com longa sobrevida. A doença de Lafora deve sempre ser incluída entre as causas de ataxia lentamente progressiva associada com epilepsia.PALAVRAS-CHAVE: doença de Lafora, ataxia, epilepsia, mioclonia. Lafora's disease and movement disorders: report of two casesABSTRACT -Two cases of Lafora's disease with prominent movement disorders portraying rare initial manifestations are reported. In both patients, the first manifestations were cerebellar ataxia, dysartria and startle phenomenon. These symptoms ocurred before seizures, myoclonic and progressive dementia, which are more well known as manifestations of Lafora's disease. The diagnosis was confirmed by the identification of PAS positive inclusion bodies in deep skin biopsy samples. Our patients presented an unexpected slow progression of the disease, with longer survival. Lafora's disease should be remembered among diseases causing slowly progressive ataxia associated with epileptic seizures.KEY WORDS: Lafora disease, ataxia, epilepsy, myoclonus.A doença de Lafora (DL) é uma forma de epilepsia mioclônica progressiva, com transmissão genética autossômica recessiva. Caracteriza-se por mioclonias, crises generalizadas tônico-clônicas e demência progressiva. A doença manifesta-se dos 6 aos 20 anos e o óbito ocorre entre 2 e 10 anos da instalação da doença. O diagnóstico é estabelecido pela presença dos corpos de Lafora na biópsia de pele axilar, do fígado ou de tecido nervoso. O estudo eletrofisiológico demonstra alterações importantes no diagnóstico da doença. O eletrencefalograma (EEG) demonstra padrão ponta-onda e ondas lentas, bem como descargas focais e difusas. Alterações significativas podem ocorrer nos potenciais evocados obtidos. A ressonância nuclear magnética (RM) e a tomografia computadorizada (TC) não demonstram alterações sugestivas ou específicas para o diagnóstico da doença.

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Longitudinal EEG Studies in a Kindred with Lafora Disease

Cited by 16 publications

References 11 publications

EEG Patterns Orienting to Lafora Disease Diagnosis—A Case Report in Two Beagles

EEG Patterns Orienting to Lafora Disease Diagnosis—A Case Report in Two Beagles

Periodic electroencephalogram discharges in a case of Lafora body disease: An unusual finding

Doença de Lafora e distúrbios do movimento: relato de dois casos

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