Progressive Myoclonus Epilepsy with Lafora Bodies. Clinical‐Pathological Features

Ham, M. W. Van Heycop Ten; Jäger, Helmut

doi:10.1111/j.1528-1157.1963.tb05214.x

Cited by 77 publications

(5 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The notion that affected individuals usually die within ten years of onset is often reported in the existing literature [ 1 , 8 – 11 ]. This statement derived from the earliest studies, mainly based on autoptic diagnosis [ 99 ], before genetic testing became available. Moreover, many papers on this topic are narrative, non-systematic reviews, in which it is possible that only the most severe and/or peculiar cases were selected.…”

Section: Discussionmentioning

confidence: 99%

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis

Pondrelli

Muccioli

Licchetta

et al. 2021

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background Lafora disease (LD) is a rare fatal autosomal recessive form of progressive myoclonus epilepsy. It affects previously healthy children or adolescents, causing pharmacoresistant epilepsy, myoclonus and severe psychomotor deterioration. This work aims to describe the clinical course of LD and identify predictors of outcome by means of a prognostic systematic review with individual participant data meta-analysis. Methods A search was conducted on MEDLINE and Embase with no restrictions on publication date. Only studies reporting genetically confirmed LD cases were included. Kaplan–Meier estimate was used to assess probability of death and loss of autonomy. Univariable and multivariable Cox regression models with mixed effects (clustered survival data) were performed to evaluate prognostic factors. Results Seventy-three papers describing 298 genetically confirmed LD cases were selected. Mean age at disease onset was 13.4 years (SD 3.7), with 9.1% aged ≥ 18 years. Overall survival rates in 272 cases were 93% [95% CI 89–96] at 5 years, 62% [95% CI 54–69] at 10 years and 57% [95% CI 49–65] at 15 years. Median survival time was 11 years. The probability of loss of autonomy in 110 cases was 45% [95% CI 36–55] at 5 years, 75% [95% CI 66–84] at 10 years, and 83% [95% CI 74–90] at 15 years. Median loss of autonomy time was 6 years. Asian origin and age at onset < 18 years emerged as negative prognostic factors, while type of mutated gene and symptoms at onset were not related to survival or disability. Conclusions This study documented that half of patients survived at least 11 years. The notion of actual survival rate and prognostic factors is crucial to design studies on the effectiveness of upcoming new disease-modifying therapies.

show abstract

Section: Discussionmentioning

confidence: 99%

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis

Pondrelli

Muccioli

Licchetta

et al. 2021

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…But it took half a century of controversies before a sound and precise clinical description of Lafora's disease (LD) was reached in the Netherlands (Van Heycoptenhamm & De Jager, 1963). From this point onwards, LD was for most, but not all, a clearly identifiable entity.…”

Section: Clinical Descriptions and Pathological Markersmentioning

confidence: 99%

The history of progressive myoclonus epilepsies

Genton¹,

Striano²,

Minassian³

2016

Epileptic Disorders

View full text Add to dashboard Cite

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.

show abstract

“…Severe and progressive dementia is characteristic of some etiologies. It is absent or moderate in ULD and in adult benign myoclonic epilepsy (Okino 1997) (disorder in which cortical damage is minimal or absent); variable in myoclonic epilepsy associated with ragged‐red fibers (MERRF) (Fukuhara et al 1980), in sialidosis and Gaucher's disease; a major symptom in Lafora (Van Heycop Ten Ham and Jager, 1963; Rapin et al , 1978) disease and in most cases of ceroid lipofuscinoses.…”

Section: Clues For a Clinical Diagnosismentioning

confidence: 99%

Progressive myoclonic epilepsies: myth or reality?

Genton,

Bureau

2006

Epileptic Disorders

View full text Add to dashboard Cite

The progressive myoclonus epilepsies (PME) are rare diseases and many clinicians, who have only few opportunities to encounter such patients, may think of them as mythical. However, the category of PME has been retained by the latest classification scheme proposal of the International League Against Epilepsy. PMEs are defined by: 1) generalized epileptic seizures (focal seizures may also occur in certain etiologies), 2) a sometimes invalidating myoclonus, and 3) other neurological symptoms (ataxia, dementia, sensory deficits) that vary according to etiology. Indeed, PMEs are a heterogenous group of conditions, with diverse etiologies. Their prevalence varies according to the ethnic context, and PMEs may appear as fairly frequent in some settings, because of genetic factors (isolate and/or inbreeding, for instance, in PMEs with recessive inheritance). The genetic and biochemical mechanisms underlying PMEs are increasingly recognized. We must nowadays follow a logical diagnostic scheme that will take into account the ethnic and genetic context, the age at onset of symptoms and the respective weight of symptoms. New therapeutic approaches are under development, and the available purely symptomatic treatments can be used to best possible effect. It is thus possible to recognize PMEs as a group of conditions appearing either as epilepsy, or as a movement disorder, or still under the mask of various neurological or cognitive symptoms. It is also possible to organize a logical, comprehensive care for patients with PME.

show abstract

Progressive Myoclonus Epilepsy with Lafora Bodies. Clinical‐Pathological Features

Cited by 77 publications

References 15 publications

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis

The history of progressive myoclonus epilepsies

Progressive myoclonic epilepsies: myth or reality?

Contact Info

Product

Resources

About