Zur Klinik der progressiven Myoklonusepilepsien

Diebold, K; Häfner, Heinz; Vogel, Friedrich

doi:10.1007/bf00244399

Cited by 16 publications

(5 citation statements)

References 19 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: 55%

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: 55%

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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“…The presence of a typical clinical course of Lafora's disease does not always coincide with the specific neuropathological findings (Matihews 1969). Besides LFB, similar intraneural inclusion bodies have been described (Yolioi et al 1965, Dastur et al 1966, Diebold et al 1967, but with slightly different characteristics due to their biochemical variations ; these last data, together with the PME cases with inclusion bodies of chronic evolution and early onset, as well as the subacute forms, support the idea of different modes of clinical evolution associated with the different phases of LFB maturity.…”

Section: Figure 6 Retraction and Necrosis Of Neurons ( N E ) Intrasupporting

confidence: 69%

Progressive Myoclonic Epilepsy With Lafora's Bodies

Lope¹,

Junquera²,

Berenguel³

2009

Acta Neurologica Scandinavica

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Two cases of Iafora's disease of rapid evolution with a typical clinical picture, and increased glutamic acid urine excretion are described. Partial critical control was obtained using clonazcpam. The rclationship between PblE and heredodegenerative ataxia is discussed ; the existence of subacute and precocious forms with long evolution in Lafora's disease is also considered. Cerebral biopsies showed multiple Lafora's bodies. Ultrastructurally, the smaller Lafora's bodies rcvcalcd a membrane that separated thcm from the neuronal cytoplasm; differences were found between the periphery and the central zone of Lafora's bodies, as well as between the different sizes of these inclusions. Their origin and the present concept of a possible biochemical composition are also discussed.

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“…In 1967 they gave further clinical details in support of this classification (Diebold et al 1967). In 1972 and 1973, Diebold presented a new classification based on histopathologically documented case reports; he distinguished four types, three with recessive and the fourth with dominant inheritance:…”

Section: Nosology Of the Progressive Myoclonus Epilepsiesmentioning

confidence: 94%

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 Klinik der progressiven Myoklonusepilepsien

Cited by 16 publications

References 19 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

Progressive Myoclonic Epilepsy With Lafora's Bodies

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

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