A study of the late form (type Lundborg) of progressive myoclonic epilepsy

Kraus-Ruppert, R; Ostertag, B.; Häfner, Heinz

doi:10.1016/0022-510x(70)90037-7

Cited by 26 publications

(5 citation statements)

References 23 publications

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“…The initial descriptions of LD highlighted a tight range of age at onset in adolescence with a rapid and predictable decline to death (Van Heycop Ten Ham, 1975). Rare cases with late onset or a longer course were identified (Kraus‐Ruppert et al, 1970). Molecular studies have now revealed a total of >50 different mutations in EPM2A and EPM2B (Ianzano et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

et al. 2007

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Summary: Purpose:We observed three apparently unrelated and geographically separate Arab families with Lafora disease in Israel and the Palestinian territories.Methods: We clinically evaluated the families and analyzed their DNA for EPM2A mutations.Results: Of seven individuals with Lafora disease, the clinical onset varied from 13 to 20 years. All three families shared the same novel homozygous deletion in EPM2A. Haplotype analysis around the deletion showed that the families shared a common homozygous haplotype. The boundaries of this haplotype varied between families and even within one family.Conclusions: We conclude that considerable variability in the age at onset of Lafora disease can occur within families. Identical mutations can be associated with the classic adolescent presentation, as well as late-onset cases. Haplotype analysis suggests that this EPM2A mutation arose many generations previously, so it may be of importance for cases distributed more widely in the Middle East.

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Section: Discussionmentioning

confidence: 99%

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

et al. 2007

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“…Jakob [19] and Kraus-Ruppert et al [22] described two brothers FD and ED. FD presented with a generalized epileptic attack at age 20 and developed myoclonic attacks soon after.…”

Section: Discussionmentioning

confidence: 99%

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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“…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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A study of the late form (type Lundborg) of progressive myoclonic epilepsy

Cited by 26 publications

References 23 publications

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

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

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

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