Unverricht‐Lundborg disease (EPM1)

Genton, Pierre

doi:10.1111/j.1528-1167.2009.02441.x

Cited by 39 publications

(23 citation statements)

References 19 publications

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“…Memory problems are not main symptoms in EPM1 [61], [62] and previous imaging studies have not revealed any hippocampal abnormalities. In agreement with the previous studies, we found no major textural differences in the hippocampi, amygdalae or caudate nuclei between the EPM1 patients and healthy controls.…”

Section: Discussionmentioning

confidence: 66%

3D Texture Analysis Reveals Imperceptible MRI Textural Alterations in the Thalamus and Putamen in Progressive Myoclonic Epilepsy Type 1, EPM1

et al. 2013

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Progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessively inherited neurodegenerative disorder characterized by young onset age, myoclonus and tonic-clonic epileptic seizures. At the time of diagnosis, the visual assessment of the brain MRI is usually normal, with no major changes found later. Therefore, we utilized texture analysis (TA) to characterize and classify the underlying properties of the affected brain tissue by means of 3D texture features. Sixteen genetically verified patients with EPM1 and 16 healthy controls were included in the study. TA was performed upon 3D volumes of interest that were placed bilaterally in the thalamus, amygdala, hippocampus, caudate nucleus and putamen. Compared to the healthy controls, EPM1 patients had significant textural differences especially in the thalamus and right putamen. The most significantly differing texture features included parameters that measure the complexity and heterogeneity of the tissue, such as the co-occurrence matrix-based entropy and angular second moment, and also the run-length matrix-based parameters of gray-level non-uniformity, short run emphasis and long run emphasis. This study demonstrates the usability of 3D TA for extracting additional information from MR images. Textural alterations which suggest complex, coarse and heterogeneous appearance were found bilaterally in the thalamus, supporting the previous literature on thalamic pathology in EPM1. The observed putamenal involvement is a novel finding. Our results encourage further studies on the clinical applications, feasibility, reproducibility and reliability of 3D TA.

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Section: Discussionmentioning

confidence: 66%

3D Texture Analysis Reveals Imperceptible MRI Textural Alterations in the Thalamus and Putamen in Progressive Myoclonic Epilepsy Type 1, EPM1

et al. 2013

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“…All developed pyramidal and extrapyramidal signs in the advanced disease stages, a neurologic condition that is frequent in NCL 6,7 but rare in the more common PME forms such as EPM1 and EPM2. [22][23][24] Morphologic evaluation of skin biopsy in children showed typical storage materials with the characteristics of FPs, CPs as reported in vLINCL 12,25,26 suggesting that cytoplasmic vacuoles containing mixed CPs and fingerprints are a common characteristic in children with CLN6 mutations. Leukocyte examination is less invasive, but even if suggestive of NLCs does not show a specific pattern and can be negative.…”

Section: Resultsmentioning

confidence: 81%

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

et al. 2015

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In all patients, multifocal myoclonic jerks and seizures were a key feature, but myoclonic seizures were an early and prominent sign in the teenage/adult form only. Conversely, the childhood-onset form was characterized by initial and severe cognitive impairment coupled with electroretinogram and EEG attenuation. Cortical hyperexcitability, shown by the PPR and enlarged somatosensory evoked potentials, was a universal feature.

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“…Initially, patients are mentally alert, showing liability, depression and, later, a mild decline in intellectual performance is observed. However, the disease can lead to dysarthria, and ataxia in later stages (Kalviainen et al, 2008; Genton, 2010). Pathology results in a marked loss of Purkinje cells in the granular layer of the cerebellum (Eldridge et al, 1983).…”

Section: Progressive Myoclonus Epilepsy Of Type 1 (Epm1) As a Neurodementioning

confidence: 99%

Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants

Polajnar¹,

Čeru²,

Kopitar-Jerala³

et al. 2012

Front. Mol. Neurosci.

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Epilepsies are characterized by abnormal electrophysiological activity of the brain. Among various types of inherited epilepsies different epilepsy syndromes, among them progressive myoclonus epilepsies with features of ataxia and neurodegeneration, are counted. The progressive myoclonus epilepsy of type 1 (EPM1), also known as Unverricht-Lundborg disease presents with features of cerebellar atrophy and increased oxidative stress. It has been found that EPM1 is caused by mutations in human cystatin B gene (human stefin B). We first describe the role of protein aggregation in other neurodegenerative conditions. Protein aggregates appear intraneurally but are also excreted, such as is the case with senile plaques of amyloid-β (Aβ) that accumulate in the brain parenchyma and vessel walls. A common characteristic of such diseases is the change of the protein conformation toward β secondary structure that accounts for the strong tendency of such proteins to aggregate and form amyloid fibrils. Second, we describe the patho-physiology of EPM1 and the normal and aberrant roles of stefin B in a mouse model of the disease. Furthermore, we discuss how the increased protein aggregation observed with some of the mutants of human stefin B may relate to the neurodegeneration that occurs in rare EPM1 patients. Our hypothesis (Ceru et al., 2005) states that some of the EPM1 mutants of human stefin B may undergo aggregation in neural cells, thus gaining additional toxic function (apart from loss of normal function). Our in vitro experiments thus far have confirmed that four mutants undergo increased aggregation relative to the wild-type protein. It has been shown that the R68X mutant forms amyloid-fibrils very rapidly, even at neutral pH and forms perinuclear inclusions, whereas the G4R mutant exhibits a prolonged lag phase, during which the toxic prefibrillar aggregates accumulate and are scattered more diffusely over the cytoplasm. Initial experiments on the G50E and Q71P missense EPM1 mutants are described.

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Unverricht‐Lundborg disease (EPM1)

Cited by 39 publications

References 19 publications

3D Texture Analysis Reveals Imperceptible MRI Textural Alterations in the Thalamus and Putamen in Progressive Myoclonic Epilepsy Type 1, EPM1

3D Texture Analysis Reveals Imperceptible MRI Textural Alterations in the Thalamus and Putamen in Progressive Myoclonic Epilepsy Type 1, EPM1

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants

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