Die erblichen myoklonisch-epileptisch-dementiellen Kernsyndrome

Diebold, K

doi:10.1007/978-3-642-80728-2

Cited by 8 publications

(3 citation statements)

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“…Myoclonus epilepsy is a heterogeneous group of diseases characterized by two common features: myoclonus and epileptic seizures (Vogel et al 1965, Diebold 1973. So far, no definite, biochemically and morphologically founded classification of this group of (generally very rare) diseases has been achieved.…”

Section: Myoclonus Epilepsymentioning

confidence: 99%

Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**

Vogel

1984

Clinical Genetics

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Heterozygotes of autosomal‐recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong minority fitness of heterozygotes is increased. This review will be devoted to a consideration of the extent to which heterozygotes for a wide variety of nominally recessive diseases are subject either to an increased liability for common diseases or slight shifts of behavioral characteristics. The available evidence has been collected and will be discussed in three steps: 1. Most studies are available for phenylketonuria. For this group of diseases, a slight reduction of average ‐ especially verbal ‐ I.Q. in heterozygotes has been reported together with signs of a slightly increased cerebral irritability, a possible slight increase of risk for mental disease, and an increase of blood phenylalanine levels in stress situations. The PKU example is used to discuss methodological problems involved in such studies. 2. Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and ataxia‐teleangiectasia (increased cancer risk). 3. Since heterozygotes for autosomal recessive diseases are common, it is possible that an appreciable fraction of “multifactorial” genetic liabilities for common, “constitutional” or mental disease might simply be due to heterozygosity for genes whose homozygous affects are already well known. By the same token, much of the “normal” genetic variability influencing cognitive performance (I.Q.) ‐ especially in the lower range ‐ and personality characteristics could also be caused by recessive genes in the heterozygous state.

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Section: Myoclonus Epilepsymentioning

confidence: 99%

Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**

Vogel

1984

Clinical Genetics

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“…Van Bogaert approached the issue from a mixed neuropathological and clinical point of view, and supported the concept of PME, but failed to establish clear boundaries between the various types (Van Bogaert, ). In 1973, Diebold defined a nucleus of “hereditary myoclonus‐epilepsy‐dementia nuclear syndromes” ( erbliche myoklonisch‐epileptisch‐dementielle Kernsyndrome ), which he differentiated from the “borderline syndromes” occurring in diseases which only fit the PME definition in some cases (Diebold, ). Heralding the modern approach, the Montreal group also acknowledged the concept of PME and proposed a classification that was, subjectively, based on the relative frequency of these rare conditions (Berkovic et al ., ).…”

Section: The Concept Of Progressive Myoclonus Epilepsymentioning

confidence: 99%

The history of progressive myoclonus epilepsies

Genton¹,

Striano²,

Minassian³

2016

Epileptic Disorders

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The history of the progressive myoclonus epilepsies (PMEs) spans more than a century. However, the recent history of PMEs begins with a consensus statement published in the wake of the Marseille PME workshop in 1989 (Marseille Consensus Group, 1990). This consensus helped define the various types of PME known at the time and set the agenda for a new era of genetic research which soon lead to the discovery of many PME genes. Prior to the Marseille meeting, and before the molecular era, there had been much confusion and controversy. Because investigators had but limited and biased experience with these rare disorders due to the uneven, skewed distribution of PMEs around the world, opinions and nosologies were based on local expertise which did not match well with the experiences of other researchers and clinicians. The three major areas of focus included: (1) the nature and limits of the concept of PME in varying scopes, which was greatly debated; (2) the description of discrete clinical entities by clinicians; and (3) the description of markers (pathological, biological, neurophysiological, etc.) which could lead to a precise diagnosis of a given PME type, with, in the best cases, a reliable correlation with clinical findings. In this article, we shall also examine the breakthroughs achieved in the wake of the 1989 Marseille meeting and recent history in the field, following the identification of several PME genes. As in other domains, the molecular and genetic approach has challenged some established concepts and has led to the description of new PME types. However, as may already be noted, this approach has also confirmed the existence of the major, established types of PME, which can now be considered as true diseases.

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“…Among progressive myoclonus epilepsies (PME) [1][2][3], Lafora's disease represents a fairly well-defined clini cal and neurophysiological entity [4][5][6] with a recessive inheritance and a known histopathological marker, the presence of Lafora bodies in brain tissue. These deposits of polyglucosans can also be seen on skin, mucosa, liver or muscle biopsies [7][8][9][10].…”

Section: Introductionmentioning

confidence: 99%

Semi-Late Onset and Rapidly Progressive Case of Lafora’s Disease with Predominant Cognitive Symptoms

Genton¹,

Borg

Vigliano³

et al. 1989

Eur Neurol

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The authors report a sporadic case of Lafora’s disease, unusual for the comparatively late age at onset and atypical evolution. Discrete visual phenomena that may be considered as partial seizures occurred at age 19 years. A generalized tonic-clonic seizure occurred at 20 years of age and myoclonus became apparent a few weeks later. A massive cognitive dysfunction was clearly apparent 3 months after the first seizure and further mental deterioration occurred although seizures were controlled by medication and myoclonus remained minimal. The EEG showed the typical association of generalized and focal (occipital) changes. Axillar skin and muscle biopsies were positive and easily confirmed the diagnosis. The clinical presentation of Lafora’s disease is considered by the authors to be sufficient for a clinical diagnosis, even in such an atypical case. Confirmation by skin biopsy is easily obtainable.

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Die erblichen myoklonisch-epileptisch-dementiellen Kernsyndrome

Cited by 8 publications

References 0 publications

Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**

Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**

The history of progressive myoclonus epilepsies

Semi-Late Onset and Rapidly Progressive Case of Lafora’s Disease with Predominant Cognitive Symptoms

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