Zur Genetik der progressiven Myoklonusepilepsien (Unverricht-Lundborg)

Vogel, Friedrich; Häfner, Heinz; Diebold, K

doi:10.1007/bf00279122

Cited by 20 publications

(10 citation statements)

References 22 publications

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“…These findings were confirmed on electron microscopy. The same two patients are also described in papers by Vogel et al [31], Diebold et al [8] and Diebold [7].…”

Section: Discussionsupporting

confidence: 53%

Familial Lafora body disease of late onset: report of four cases in one family and a review of the literature

Footitt

Quinn

Kocen

et al. 1996

Journal of Neurology

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Lafora body disease is one cause of progressive myoclonus epilepsy. It typically presents in the second decade with generalized seizures, myoclonus and then intellectual decline. Death is usual within 10 years. Diagnosis may be made by biopsy of skin, muscle, liver or brain. We present four siblings who were normal until their mid-twenties, but then developed intellectual decline, followed by myoclonus. Although a rare form of Lafora body disease has been described that follows a more benign course, may be of later onset, and whose pathology is subtly different, this family is so far unique in terms of the late presentation of otherwise typical Lafora body disease.

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“…These findings were confirmed on electron microscopy. The same two patients are also described in papers by Vogel et al [31], Diebold et al [8] and Diebold [7].…”

Section: Discussionsupporting

confidence: 53%

Familial Lafora body disease of late onset: report of four cases in one family and a review of the literature

Footitt

Quinn

Kocen

et al. 1996

Journal of Neurology

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“…Pleurotus ostreatus maintained on a potato agardextrose (PAD) 32 medium was grown in submerged culture in Erlenmeyer flasks (1 L) containing 200 mL of Vogel 33 basal medium made of a minimal salts medium, 1% m/v glucose and 0.2% m/v yeast extract for 7 days at 28 ºC, and shaken continuously at 180 rpm. Cell-free culture filtrates were obtained by centrifugation, then dialyzed against de-ionized water and freeze dried.…”

Section: Crude Laccase Extract Preparationmentioning

confidence: 99%

Determination of catecholamines in pharmaceutical formulations using a biosensor modified with a crude extract of fungi laccase (Pleurotus ostreatus)

Leite¹,

Fatibello‐Filho²,

Barbosa-Dekker³

2003

J. Braz. Chem. Soc.

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Um biossensor de pasta de carbono modificado com extrato bruto enzimático do fungo Pleurotus ostreatus como fonte de lacase é proposto para a determinação de catecolaminas em formulações farmacêuticas. Essa enzima catalisa a oxidação de adrenalina ou dopamina nas quinonas correspondentes e a corrente obtida na redução eletroquímica de cada um dos produtos é relacionada a concentração dessas catecolaminas em solução da amostra. O efeito da concentração de lacase de 0,29 a 1,8 U/mg de pasta de carbono, do pH de 3,0 a 8,0, da velocidade de varredura de 10 a 40 mV s -1 e amplitudes de pulso de potencial de 10 a 60 mV sobre a resposta voltamétrica de pulso diferencial foi investigado. O desvio padrão relativo foi menor que 1,8% para solução de hidroquinona 2,8 x 10 -4 mol L -1 em pH 7 (n=10). Recuperações variando de 97,3 a 101% para adrenalina e de 95,8 a 102% para dopamina foram obtidas. As curvas analíticas foram lineares no intervalo de concentração de adrenalina de 6,0 x 10 -5 a 7,0 x 10 -4 mol L -1 e de 7,0 x 10 -5 a 4,0 x 10 -4 mol L -1 para dopamina, com limites de detecção de 7,9 x 10 -6 mol L -1 e 9,8 x 10 -6 mol L -1 , respectivamente. Esse biossensor foi empregado para a determinação de adrenalina e dopamina em formulações farmacêuticas. Os resultados obtidos com o biossensor para a determinação dessas catecolaminas em formulações farmacêuticas estão em concordância a um nível de confiança de 95% com o procedimento da Farmacopéia americana.A carbon paste biosensor modified with a crude enzymatic extract of the Pleurotus ostreatus fungi as a laccase source is proposed for catecholamine determination in pharmaceutical formulations. This enzyme catalyzes the oxidation of adrenaline or dopamine in the corresponding quinones and the current obtained in the electrochemical reduction of each of the products is related to the concentration of these catecholamines in the sample solution. The effect of the laccase concentration from 0.29 to 1.8 U/mg of carbon paste, pH from 3.0 to 8.0, scan rate from 10 to 40 mV s -1 and potential pulse amplitude from 10 to 60 mV on the differential pulse voltammetric response was investigated. The relative standard deviation was smaller than 1.8% for a 2.8 x 10 -4 mol L -1 hydroquinone solution at pH 7.0 (n=10). Recoveries varied from 97.3 to 101% for adrenaline and from 95.8 to 102% for dopamine. The analytical curves were rectilinear in the adrenaline concentration range from 6.0 x 10 -5 to 7.0 x 10 -4 mol L -1 and 7.0 x 10 -5 to 4.0 x 10 -4 mol L -1 for dopamine, with detection limits of 7.9 x 10 -6 mol L -1 and 9.8 x 10 -6 mol L -1 , respectively. This biosensor was used for adrenaline and dopamine determinations in pharmaceutical formulations. The results obtained using the proposed biosensor are in close agreement with those obtained using an American Pharmacopoeia procedure at a 95% confidence level. Keywords: laccase, Pleurotus ostreatus, catecholamines, biosensor IntroductionCatecholamines play an important role in the central nervous system as neurotransmitters. They als...

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“…The remaining cases, the atypical ones, defectively known or too few in number, should simply be lumped together until experience and knowledge have grown sufficiently for the separation of some new entity. In that group we would lump our "atypical" female patient described on p. 389, the brothers reported as Lundborg's type by Vogel et al (1965) and later described in detail by Kraus-Ruppert et al (1970), the patient of Dastur et al (1966), referred to by Diebold (1972) as a late type of the Lafora group, and the patients of Riehl et al (1967 andBrown et al 1 9 6 Q Klein et al (1968) and Bergener & Gerhard (1970). These patients were atypical not only in clinical features but also, as far as we can judge, regarding histological data (Haltia, personal communication 1978).…”

Section: Nosological Conclusionmentioning

confidence: 99%

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

1979

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In 107 Finnish patients with progressive myoclonus epilepsy (PME), belonging to 74 families, autosomal recessive inheritance was evident. The sex ratio was 48:51, the corrected proportion of affected sibs being 0.260. Of 68 marriages 15, or 22 %, were consanguineous; several of the parents were related and the geographical distribution was of the uneven type typical of young, isolated populations in Finland. The incidence in Finland was estimated to exceed 1:20,000. The clinical picture in the Finnish PME patients was uniform, being identical with that of Unverricht's and Lundborg's patients, but clearly distinct from Lafora disease. The following classification of PME is proposed: (1) PME, Lafora type: onset of grand mal attacks and/or myoclonus around the 15th year of life; rapid and severe mental deterioration, often with psychotic symptoms; short survival; histological finding of Lafora bodies; autosomal recessive inheritance. (2) PME, Unverricht‐Lundborg type: onset around the 10th year of life; severity variable, progressive invalidity from myoclonic features associated with mild mental symptoms, time of survival variable, “degenerative” histological changes; autosomal recessive inheritance. (3) Autosomal dominant or otherwise atypical cases of PME. The importance of accurate diagnosis is stressed.

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Zur Genetik der progressiven Myoklonusepilepsien (Unverricht-Lundborg)

Cited by 20 publications

References 22 publications

Familial Lafora body disease of late onset: report of four cases in one family and a review of the literature

Familial Lafora body disease of late onset: report of four cases in one family and a review of the literature

Determination of catecholamines in pharmaceutical formulations using a biosensor modified with a crude extract of fungi laccase (Pleurotus ostreatus)

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

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