Vier Erbtypen oder Krankheitsformen der progressiven Myoklonusepilepsien

Diebold, K

doi:10.1007/bf00342877

Cited by 10 publications

(7 citation statements)

References 15 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: 54%

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: 54%

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 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%

“…The nosology of progressive myoclonus epilepsies (PME) is far from satisfactory, although the disease concept has been recognized for 80 years (Unverricht 1891, 1895, Lundborg 1903, 1912 and the symptom complex is easy to detect. Several hundreds of PME-like cases have been published (Diebold 1972), but mostly as small heterogeneous family series or as single case reports.…”

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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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“…The European literature contains a few reports (Declerck, 1968;Jakob, 1969;Kraus-Ruppert et al, 1970;Diebold, 1972) of PME with LB characterized by late onset (age 17-33 years) and protracted course (age at death 42-65 years). Dementia or character changes were evident from onset or within the first 10 years of disease course and in all cases were progressive.…”

Section: Discussionmentioning

confidence: 99%

Arylsulfatase A Pseudodeficiency and Lafora Bodies in a Patient with Progressive Myoclonic Epilepsy

et al. 1994

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Since age 12 years, a 25-year-old woman had a syndrome with myoclonic epilepsy, cerebellar signs, and spontaneous myoclonus. Skin biopsy showed typical Lafora bodies (LB), but she lacked a progressive course and mental impairment, hallmarks of Lafora disease. Lysosomal enzyme assays showed low level arylsulfatase A (ASA) activity. DNA study disclosed a homozygous ASA Pd genotype. Both parents carried one Pd allele. The still-unknown relationship between the pathologic level of ASA activity and myoclonic epilepsies suggests introduction of ASA assays in patients with PME.

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Vier Erbtypen oder Krankheitsformen der progressiven Myoklonusepilepsien

Cited by 10 publications

References 15 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 myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

Arylsulfatase A Pseudodeficiency and Lafora Bodies in a Patient with Progressive Myoclonic Epilepsy

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