lafora disease/ataksi

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Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.

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Lafora disease (LD) is an autosomal recessive form of a fatal disorder characterized by the myoclonus epilepsy, ataxia, psychosis, dementia, and dysarthria. A hallmark of LD is the presence of abnormal glycogen inclusions called Lafora bodies in the affected tissues including the neurons. LD can be

Longitudinal EEG studies in a kindred with Lafora disease.

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We reviewed 18 EEG studies in four members of a family with the Lafora form of progressive myoclonic epilepsy. Each patient was the product of a consanguinous marriage and presented as a teenager with progressive seizures, myoclonus, dementia, and ataxia, and had biopsy proven disease. The EEG early

Biopsy results in a kindred with Lafora disease.

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We studied biopsy results in a kindred with the Lafora form of progressive myoclonic epilepsy. Four members of a family with known consanguinity presented as teenagers with seizures, myoclonus, dementia, and ataxia. After the diagnosis was established by brain biopsy in the first patient, many

[Lafora disease (author's transl)].

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On the basis of 21 personal observations as well as those (82) from the litterature, it is concluded that the progressive myoclonic epilepsy with Lafora bodies (P.M.E.) constitutes a disease on its own. The clinical features are those described in the litterature observations and completed by some

Periodic electroencephalogram discharges in a case of Lafora body disease: An unusual finding.

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Lafora body disease (LBD) is a form of progressive myoclonic epilepsy, characterized by seizures, myoclonic jerks, cognitive decline, ataxia, and intracellular polyglucosan inclusion bodies (Lafora bodies) in the neurons, heart, skeletal muscle, liver, and sweat gland duct cells.

Lafora disease and congenital generalized lipodystrophy: a case report.

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We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood. Lafora disease was diagnosed based on skin biopsy results, which revealed pathognomonic Lafora bodies. The results of genetic analysis for

Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease.

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BACKGROUND Lafora disease is an autosomal recessive form of progressive myoclonic epilepsy caused by defects in the EPM2A and EPM2B genes. Primary symptoms of the pathology include seizures, ataxia, myoclonus, and progressive development of severe dementia. Lafora disease can be caused by defects in

Advances in lafora progressive myoclonus epilepsy.

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Abstract Lafora progressive myoclonus epilepsy is an autosomal recessive, fatal, generalized polyglucosan storage disorder that occurs in childhood or adolescence with stimulus sensitive epilepsy (resting and action myoclonias, grand mal, and absence), dementia, ataxia and rapid neurologic

Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease).

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OBJECTIVE The aim of this report is to provide initial evidence that add-on treatment with perampanel might be highly effective in progressive myoclonic epilepsy such as Lafora disease. METHODS We report on a 21-year-old woman suffering from persistent myoclonus and generalized tonic-clonic seizures

Lafora Disease

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Progressive myoclonic epilepsies (PMEs) are uncommon genetic disorders of various age groups (infancy, childhood, juvenile, or adult onset) characterized by progressive myoclonus, epileptic seizures and in most cases, dementia and ataxia. Death is the worst possible outcome. Genetic

Clinical and genetic studies in patients with Lafora disease from Pakistan.

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Lafora disease (LD) is progressive myoclonic epilepsy with late childhood- to teenage-onset. Mutations in two genes, EPM2A and NHLRC1, are responsible for this autosomal recessive disease in many patients Worldwide. In present study, we reported two unrelated consanguineous Pakistani families with

Other autosomal recessive and childhood ataxias.

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The label of "early-onset cerebellar ataxia with retained tendon reflexes" (EOCA) has been created to differentiate it from Friedreich ataxia (FRDA) patients with preserved knee jerks and absence of cardiomyopathy, optic atrophy, and diabetes mellitus. However, EOCA is a heterogeneous syndrome and

Laforin in autophagy: a possible link between carbohydrate and protein in Lafora disease?

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The progressive myoclonus epilepsy of Lafora disease (LD) is a fatal form of neurodegenerative disorder associated with progressive intellectual decline and ataxia in addition to epilepsy. The disease can be caused by defects in the EPM2A gene encoding laforin phosphatase or the NHLRC1 gene encoding

Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters.

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Lafora disease (LD) is an autosomal recessive inherited form of progressive myoclonic epilepsy with dementia and ataxia, usually presenting in the second decade of life and inexorably progressing until death. Neuropathological hallmarks are Lafora bodies, intracytoplasmic inclusions that can be

Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.

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Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy with classic adolescent onset of stimuli sensitive seizures. Patients typically deteriorate rapidly with dementia, ataxia, vegetative failure and death by 25 years of age. LD is caused by homozygous mutations in EPM2A or

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