Longitudinal Clinicoelectrophysiologic Study of a Case of Lafora Disease Proven by Skin Biopsy

Kobayashi, Katsuhiro; Iyoda, Kuniaki; Ohtsuka, Yoko; Ohtahara, Shunsuke; Yamada, Michio

doi:10.1111/j.1528-1167.1990.tb06306.x

Cited by 34 publications

(28 citation statements)

References 19 publications

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“…The LD is relatively frequent in southern Europe (Italy, France, and Spain), northern Africa, the Middle East, and south Asia (Serratosa et al 1995;Delgado-Escueta et al 2001). A few sporadic cases with typical LD phe-notype have also been reported from Japan and Korea (Kobayashi et al 1990;Kato et al 1999;Ganesh et al 2001;Ki et al 2003). A gene for LD was localized to a 3 cM region on 6q24 (Serratosa et al 1995).…”

Section: Introductionmentioning

confidence: 99%

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population

et al. 2005

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Lafora disease (LD) is a rare autosomal recessive genetic disorder characterized by epilepsy, myoclonus, and progressive neurological deterioration. LD is caused by mutations in the EMP2A gene encoding a protein phosphatase. A second gene for LD, termed NHLRC1 and encoding a putative E3 ubiquitin ligase, was recently identified on chromosome 6p22. The LD is relatively common in southern Europe, the Middle East, and Southeast Asia. A few sporadic cases with typical LD phenotype have been reported from Japan; however, our earlier study failed to find EPM2A mutations in four Japanese families with LD. We recruited four new families from Japan and searched for mutations in EPM2A. All eight families were also screened for NHLRC1 mutations. We found five independent families having novel mutations in NHLRC1. Identified mutations include five missense mutations (p.I153M, p.C160R, p.W219R, p.D245N, and p.R253K) and a deletion mutation (c.897insA; p.S299fs13). We also found a family with a ten base pair deletion (c.822-832del10) in the coding region of EPM2A. In two families, no EPM2A or NHLRC1 mutation was found. Our study, in addition to documenting the genetic and molecular heterogeneity observed for LD, suggests that mutations in the NHLRC1 gene may be a common cause of LD in the Japanese population.

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Section: Introductionmentioning

confidence: 99%

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population

et al. 2005

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“…A anormalidade gênica subjacente foi mapeada para o cromossomo 6q24 9 . O aparecimento da doença (cerca de 85% dos casos) está fortemente relacionado a casamentos consanguíneos 2,5,10 . Vários estudos demonstraram a presença de deficiência da tirosina fosfatase, uma enzima relacionada ao metabolismo do glicogênio 9 .…”

Section: Discussionunclassified

“…No sistema nervoso central, os corpos de inclusão localizam-se, principalmente no núcleo denteado, núcleo rubro, substância negra e hipocampo 1 , embora também sejam encontrados na substância branca, nos nervos periféricos, miocárdio, musculatura esquelética, pele e fígado 5,8,11 . A biópsia profunda de pele parece ser o método mais indicado para o diagnóstico [10][11][12][13][14] . O EEG intercrítico mostra alentecimento da atividade de base, que apresenta-se nas frequências teta e delta.…”

Section: Discussionunclassified

“…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

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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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“…In longitudinal studies of EEG, the pattern of spike and wave discharges at a frequency of 3 Hz, found in the early stages, increases to 6-12 Hz with disease progression [22].…”

Section: Clinical and Eletroencephalographic Aspectsmentioning

confidence: 99%

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

Siqueira

2010

J Neurol

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The progressive myoclonic epilepsies (PME) are a rare group of inherited neurodegenerative diseases with debilitating evolution, resistance to treatment and poor prognosis. However, advances in molecular genetics have enabled better understanding of the pathogenesis of these diseases, bringing hope for improved treatment options in the future. This manuscript is an overview of the clinical and molecular findings in patients with PME. Furthermore, it describes therapeutic approaches that are currently recommended in the literature.

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Longitudinal Clinicoelectrophysiologic Study of a Case of Lafora Disease Proven by Skin Biopsy

Cited by 34 publications

References 19 publications

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population

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

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

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