Late childhood and adolescence, usually ages 8–19 years[2]
Causes
Mutation in either the EPM2A or EPM2B [NHLRC1] genes[3]
Differential diagnosis
Other progressive myoclonic epilepsies (sialidosis, myoclonic epilepsy with ragged red fibers, Unverricht-Lundborg disease), Juvenile Myoclonic Epilepsy, Subacute sclerosing panencephalitis, schizophrenia[2]
Prognosis
Universally fatal; most of the time, death occurs within 10 years after onset of initial symptoms.
Lafora disease is a rare, adult-onset and autosomal recessive[4] genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle, and skin.[5]: 545 Lafora disease is also a neurodegenerative disease that causes impairment in the development of brain (cerebral) cortical neurons and is a glycogen metabolism disorder.[6]
Lafora disease (LD) was described by the Spanish neuropathologist Gonzalo Rodríguez Lafora (1886–1971) in 1911, while directing the Neuropathology Section at the Government Hospital for Mental Insane (current NIH, US).[7]
Lafora disease is rare, meaning it is very rare in children, adolescents and adults worldwide. However, it has a higher incidence among children and adolescents with ancestry from regions where consanguineous relationships are common, namely the Mediterranean (North Africa, Southern Europe), the Middle East, India, and Pakistan.[2] Dogs can also have the condition. In dogs, Lafora disease can spontaneously occur in any breed, but the miniature wire-haired dachshund, bassett hound, and beagle are predisposed.[8]
Most patients with this disease do not live past the age of twenty-five, and it often leads to death within ten years of symptoms appearing. Late onset symptoms of this disease can begin at any age depending on the genes affected.[9] At present, there is no cure for this disease, but there are ways to deal with symptoms through treatments and medications. There are five patient organizations worldwide that share resources and support the Lafora patient community.[10]
^"Healthgrades Health Library".
^ abcJansen, A.C.; Andermann, E. (21 February 2019) [Originally published 28 December 2007]. "Progressive Myoclonus Epilepsy, Lafora Type". In Adam, M.P.; Feldman, J.; Mirzaa, G.M.; Pagon, R.A.; Wallace, S.E.; Bean, L.J.H.; Gripp, K.W.; Amemiya, A. (eds.). GeneReviews. Seattle: University of Washington, Seattle. ISSN 2372-0697. PMID 20301563.
^"Association for Glycogen Storage Disease - Lafora Disease". 17 October 2018.
^James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
^Ortolano, S.; Vieitez, I.; Agis-Balboa, R. C.; Spuch, C. (2014). "Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease". Molecular Brain. 7: 7. doi:10.1186/1756-6606-7-7. PMC 3917365. PMID 24472629.
^Lafora, Gonzalo R.; Glueck, Bernard (December 1911). "Beitrag zur Histopathologie der myoklonischen Epilepsie: Bearbeitung des klinischen Teiles". Zeitschrift für die gesamte Neurologie und Psychiatrie (in German). 6 (1): 1–14. doi:10.1007/BF02863929. ISSN 0303-4194. S2CID 80976415.
Laforadisease is a rare, adult-onset and autosomal recessive genetic disorder which results in myoclonus epilepsy and usually results in death several...
Gonzalo Rodríguez Lafora (1886–1971), Spanish neurologist Laforadisease, genetic disorder This page lists people with the surname Lafora. If an internal...
suggested that it should re-designated as GSD-XIV. Laforadisease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder. Polyglucosan...
identified at least three forms of PME. Laforadisease is inherited as an autosomal recessive disorder, meaning that the disease occurs only when a child inherits...
investigated in disease models for Alexander disease, ATXN2 (gene) and FUS (gene) amyotrophic lateral sclerosis, Angelman syndrome, Laforadisease, lymphoma...
a disease until a century later due to the rarity of the disease. In 1911, Lafora identified Lafora bodies but believed to be part of ULD. Lafora's genetics...
Kearns–Sayre syndrome, a disease of the mitochondria, involves abnormal mitochondria in eccrine sweat glands. Laforadisease is a rare genetic disorder...
with a carbohydrate-binding domain, which is mutated in patients with Laforadisease. It contains a dual specificity phosphatase domain (DSP) and a carbohydrate...
Diseases usually classified in this group are Unverricht-Lundborg disease, myoclonus epilepsy with ragged red fibers (MERRF syndrome), Laforadisease...
seizures, include ataxia, peripheral neuropathy, and dementia. Laforadisease is also known as Lafora progressive myoclonus epilepsy, which is an autosomal recessive...
associated with a wide range of diseases, including Laforadisease, dentatorubropallidoluysian atrophy, and celiac disease. The diagnosis of Ramsay Hunt...
(PDF) from the original on July 20, 2021. Engelhardt E (October 2017). "Lafora and Trétiakoff: the naming of the inclusion bodies discovered by Lewy"....
brain, comparing them to earlier findings by Gonzalo Rodríguez Lafora. In 1913, Lafora described another case, and acknowledged Lewy as the discoverer...
were the Spanish neuropathologists Nicolás Achúcarro and Gonzalo Rodríguez Lafora, two distinguished disciples of Santiago Ramón y Cajal and members of the...
Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, et al. (2006). "Laforadisease due to EPM2B mutations: a clinical and genetic study". Neurology. 64...
December 2013). "Neuronatin gene: Imprinted and misfolded: Studies in Laforadisease, diabetes and cancer may implicate NNAT-aggregates as a common downstream...
methods, he studied progressive myoclonus epilepsy (laforadisease), an autosomal recessive disease with deposition of polyglucosan in cells of various...
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