Progressive myoclonus epilepsy without Lafora bodies.

Matthews, W. B.; Howell, D. A.; Stevens, Diane

doi:10.1136/jnnp.32.2.116

Cited by 21 publications

(3 citation statements)

References 21 publications

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“…Our patients and the cases of Unverricht and Lundborg most probably belong to the "degenerative group". Other cases which could be included in that group are those reported by Henneaux (1958), Matthews et al (1969), Buscaino et at. (1973), Diebold et al, sibshib I (1974), and Giuliani et al (1977).…”

Section: Uiiverricht's Lundborg's and The Finnish P M Ementioning

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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Section: Uiiverricht's Lundborg's and The Finnish P M Ementioning

confidence: 99%

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

1979

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show abstract

“…Histological alterations ofthe cerebellum in some cases of progressive myoclonus epilepsy have been described previously (Ammermann, 1940;Anraku et al, 1965;Matthews et al, 1969;Koskiniemi et al, 1974;Van Heycop Ten Ham, 1974). Lafora bodies were not constantly present, but they were associated with other alterations such as cellular depletion of the granular layer, loss of Purkinje cells, and degenerative changes in the dentate nucleus.…”

mentioning

confidence: 62%

Myoclonus epilepsy with cerebellar Lafora bodies: Report of a case

Scelsi

Mazzella

Lombardi

1976

Journal of Neurology, Neurosurgery & Psychiatry

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“…Unfortunately, no histopathological findings are available but on clinical grounds we suggest that these cases belong to the Lafora bodies group of progressive familial myoclonus epilepsy. Watson and Denny-Brown (1953), however, found neuronal lipidosis and Matthews et al (1969) did not find Lafora bodies in their similar cases.…”

Section: Discussionmentioning

confidence: 85%