In the present study, we demonstrate that laforin is a phosphoprotein, as indicated by two-dimensional electrophoresis, and we identify Ser(25) as the residue involved in this modification. [ncbi.nlm.nih.gov]

Lafora bodies are also present is other body tissues, including the myoepithelial cells of apocrine glands and eccrine gland duct cells. [path.upmc.edu]

This disease presents no sex-related differences and it is predominantly found in southern European countries. [elsevier.es]

When the mutation occurs on the EPM2A gene, laforin protein is downregulated and less amount of this protein is present or none is made at all. [en.wikipedia.org]

• Epilepsy

  Epilepsy Foundation. Retrieved 2017-12-13. [en.wikipedia.org]

  […] type 3), and MERRF (myoclonic epilepsy with ragged red fibers). [path.upmc.edu]

  Other names: Lafora Progressive Myoclonic Epilepsy Introduction: Lafora disease is a hereditary epilepsy that is considered to be one of the progressive myoclonic epilepsies. Progressive myoclonic epilepsies are characterized by the following: 1. [wiki.med.umich.edu]

  Lafora progressive myoclonic epilepsy Lafora type progressive myoclonic epilepsy myoclonic epilepsy of Lafora progressive myoclonic epilepsy type 2 progressive myoclonus epilepsy, Lafora type Andrade DM, Turnbull J, Minassian BA. [ghr.nlm.nih.gov]

  Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus, epilepsy, EEG abnormalities and LBs in muscle and in [ncbi.nlm.nih.gov]

• Turkish

  […] coagulation treatment in lumbar and cervical disk herniation SC Yucetas, I Gezgin, CH Yildirim, Y Ehi, M Kaya Neurosurgery Quarterly 26 (3), 219-224, 2016 22016Effects of Zinc Oxide on mRNA Expression of Genes in Brain Tissue of Rats I GEZGIN, C OZIC Turkish [scholar.google.com.tr]

  Turkish Pediatrics Archive, 2011, p. 168+. Accessed 20 Apr. 2020. Gale Document Number: GALE|A257125751 [go.gale.com]

  The second case was a 21-year-old Turkish female given perampanel at a dose of 8 to 10 mg in addition to a regimen that included clonazepam, levetiracetam, piracetam, valproate, zonisamide, a ketogenic diet, and vagal nerve stimulation (VNS). [statpearls.com]

  Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families. Epilepsy Res 2012;98:273–276. [PubMed] [Google Scholar] 9. Lanoiselée HM, Genton P, Lesca G, et al. [ncbi.nlm.nih.gov]

  (Turkish) 14.Scicutella A. Anxiety disorders in epilepsy: In Ettinger AB, Kanner AM (editors). Psychiatric Issues Epilepsy. Lippincott Williams and Wilkins, 2001, 95-109. 15.Sazgar M, Carlen PL, Wennberg R. [dusunenadamdergisi.org]

• Asymptomatic

  We utilized this technique to study three asymptomatic preadolescent children from one family in which older siblings had symptomatic Lafora disease confirmed by brain or liver biopsy. [ncbi.nlm.nih.gov]

  Atypical presentation with liver failure has been reported in one patient with his parents remaining asymptomatic. [cureus.com]

  Alberto Tassinari, Occipital Lobe Seizures Related to Clinically Asymptomatic Celiac Disease in Adulthood, Epilepsia, 1992, 33, 3, 476 Wiley Online Library 19 C. Yen, A. Beydoun, I. [onlinelibrary.wiley.com]

  Associated with skewed X-inactivation PGK activity 50% to 100% in asymptomatic carriers Hemizygous asymptomatic male: 2% of control mean PGK activity Phosphoglycerate Mutase deficiency (Glycogen storage disease X; GSDX; GSD 10) 20 ● Phosphoglycerate mutase [neuromuscular.wustl.edu]

  Occipital lobe seizures related to clinically asymptomatic celiac disease in adulthood. Epilepsia 1992 ; 33 Suppl 4: 476 –81. Andermann F, Zifkin B. [academic.oup.com]

• Anemia

  sideroblastic, 1 Sanger sequencing of the ALAS2 gene Anemia, sideroblastic, with ataxia Next Generation Sequencing of 2 gene panel: ABCB7, PRNP Anemia, sideroblastic, with ataxia Sanger Sequencing of the ABCB7 gene Anemia, X-linked, with/without neutropenia [pentacorelab.hu]

• Vietnamese

  More than one race (279) Unknown (186) American Indian/Alaska Native (131) Native Hawaiian/Other Pacific Islander (49) Hispanic/Latino (16) Not Reported (14) Asian, Other (5) Korean (5) Caucasian (4) East Indian (4) Asiatic Indian (3) Filipino (1) Vietnamese [coriell.org]

• Nausea

  There may be autonomic symptoms associated with fear during a simple partial seizure, such as palpitations, epigastric disorder, nausea, and increase in respiratory rate, paleness or flushing as in panic attacks. [dusunenadamdergisi.org]

  […] glycolysis Rate limiting step in glycolysis Clinical features: Some features similar to McArdle's Onset: 2nd to 4th decade Exercise intolerance Muscle cramps & Myoglobinuria after vigorous exercise Cramps relieved by rest Pain may be associated with nausea [neuromuscular.wustl.edu]

  Seizures begin with colourful, moving spots in the peripheral vision, followed by conscious tonic head and eye version which may be associated with blurred vision, nausea, vomiting, headache, sharp pain in the head or orbit, and unresponsiveness (Guerrini [academic.oup.com]

• Vomiting

  However, topiramate efficacy tended to decrease over time, and the drug was discontinued in two out of five patients because of a rapid increase in cognitive impairment and vomiting. [statpearls.com]

  Indeed, ictal vomiting in children should alert the clinician to consider this diagnosis (Panayiotopoulos, 1988). Visual hallucinations, ictal blindness and headache are exceptional. [academic.oup.com]

  […] glycolysis Rate limiting step in glycolysis Clinical features: Some features similar to McArdle's Onset: 2nd to 4th decade Exercise intolerance Muscle cramps & Myoglobinuria after vigorous exercise Cramps relieved by rest Pain may be associated with nausea & vomiting [neuromuscular.wustl.edu]

• Failure to Thrive

  Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. [expasy.org]

  […] to thrive, Chronic autoinflammation & Recurrent sepsis RBCK1 protein E3 ubiquitin -protein ligase Interacts with EYA1 phosphatase: Involved in myogenesis (High in nuclei of fast-twitch muscle fibers) Iron regulatory protein 2 (IRP2) Forms linear ubiquitin [neuromuscular.wustl.edu]

• Heart Disease

  disease GATA6 601656 Congenital heart disease GATA5 611496 Cryptogene progressieve myoclone epilepsie KCTD7 611726 Currarino, Trias van HLXB9 176450 Diabetes insipidus, centrale AVP 125700 Diabetes insipidus, nefrogene, autosomaal dominant AQP2 125800 [dnadiagnostiek.nl]

  III NGS and Sanger Sequencing of the AGL gene Glycogen storage disease of heart, lethal congenital Sequencing of the PRKAG2 gene Glycogen Storage Disease Type 1 B Sanger Sequencing of the SLC37A4 gene Glycogen Storage Disease Type Ia Sanger Seq.of exons [pentacorelab.hu]

• Hypotension

  He was unresponsive, hypotensive, had a cessation of breathing and ventricular fibrillation. There was no clinical improvement in his health status, and he had a sudden cardiac arrest leading to his death in the 5 th year from the time of diagnosis. [ijnpnd.com]

• Myoclonus

  "Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes". Human Mutation. 26 (4): 397. doi:10.1002/humu.9376. ISSN 1098-1004. [en.wikipedia.org]

  M (2000) Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. [path.upmc.edu]

  In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body. Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. [ghr.nlm.nih.gov]

  Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus, epilepsy, EEG abnormalities and LBs in muscle and in [ncbi.nlm.nih.gov]

  The myoclonus progresses and may be very pronounced. Seizures and/or myoclonus are often stimulus induced. Mental retardation begins early in the course and progresses as well. [wiki.med.umich.edu]

• Seizure

  […] that have been reported mainly as occipital seizures and myoclonic seizures with some cases of generalized tonic-clonic seizures, atypical absence seizures, and atonic and complex partial seizures.[13][14] Other symptoms common with the seizures are [en.wikipedia.org]

  Clinical Course Tonic-clonic and/or myoclonic seizures are the usual initial features. The myoclonus progresses and may be very pronounced. Seizures and/or myoclonus are often stimulus induced. [wiki.med.umich.edu]

  Generalized tonic-clonic seizures (also known as grand mal seizures) affect the entire body, causing muscle rigidity, convulsions, and loss of consciousness. [ghr.nlm.nih.gov]

  His different types of epileptic seizures were classified as atypical absence seizures, multifocal cortical myoclonus, and generalised tonic-clonic seizures. [elsevier.es]

  Seizures can be myoclonic, grand-mal or occipital and are difficult to treat. As the disease progresses, dementia sets in. Additionally, the associate seizures worsen and become more difficult to treat. [blog.sermo.com]

• Generalized Tonic-Clonic Seizure

  The following is a report and discussion of a 20-year-old man with no relevant past medical history until the age of 16 years when he had his first generalized tonic-clonic seizure. [ncbi.nlm.nih.gov]

  Affected individuals in both families presented with generalized tonic clonic seizures, intellectual disability, ataxia and cognitive decline. [infona.pl]

  […] for about 12 to 14 years in both patients, not only for myoclonus but generalized tonic-clonic seizures as well. [statpearls.com]

• Generalized Seizure

  From Wikidata Jump to navigation Jump to search Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive [wikidata.org]

  Progressive Myoclonus Epilepsy (PME) of the Lafora type is an autosomal recessive disease, which presents in teenage years with myoclonia and generalized seizures leading to death within a decade of onset. [ncbi.nlm.nih.gov]

  Homepage Rare diseases Search Search for a rare disease Lafora disease Disease definition Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial [orpha.net]

• Abnormal Gait

  […] disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Myoclonus 0001336 Progressive neurologic deterioration Worsening neurological symptoms 0002344 Psychosis 0000709 Rapidly progressive Worsening quickly 0003678 Visual auras 0011165 [rarediseases.info.nih.gov]

• Onset in Late Childhood or Adolescence

  It is an autosomal-recessive disorder with onset in late childhood or adolescence. Characteristic seizures include myoclonic and occipital lobe seizures with visual hallucinations, scotomata, and photoconvulsions. [ncbi.nlm.nih.gov]

  Keywords BDNF Cerebral cortex GABAergic neurons Lafora disease Laforin Neurotrophin NGF p75NTR Background Lafora disease (OMIM 254780) is an autosomal recessive form of epilepsy with onset in late childhood or adolescence [ 1 – 3 ]. [doi.org]

Diagnostic workup includes genetic analysis as well as axillary skin biopsy with evidence of typical periodic acid-Schiff (PAS)-positive polyglucosan inclusion bodies (Lafora bodies) in the apocrine glands and/or in the eccrine duct. [ncbi.nlm.nih.gov]

The diagnostic workup for hepatitis, infectious etiologies, autoimmune disorders, hemochromatosis, Wilson's disease, alpha-1 antitrypsin deficiency, and other related diseases was inconclusive. [cureus.com]

Treatment[edit] Unfortunately there is no cure for Lafora Disease with treatment being limited to controlling seizures through anti-epileptic and anti-convulsant medications.[27] The treatment is usually based on the individual's specific symptoms and [en.wikipedia.org]

Lamotrigine was noted as an effective treatment for infantile and juvenile neuronal ceroid lipofuscinosis. [statpearls.com]

"Current treatments for Lafora disease are only palliative with patients typically succumbing to their disease within ten years of symptom onset," said Deborah Ramsdell, CEO of Valerion. [prnewswire.com]

The frequency of anxiety disorders in treatment-resistant epileptic patients who are scheduled for surgical treatment is 10%-44%, whereas the frequency is 11% in primary care among patients with epilepsy (6,7). [dusunenadamdergisi.org]

Keywords: Lafora disease, glycogen synthase, treatment This work is published and licensed by Dove Medical Press Limited. [doi.org]

Abstract Lafora disease (LD) is an autosomal recessive, progressive disorder characterized by myoclonus and seizures, inexorable neurologic deterioration, cognitive decline and poor prognosis. [ncbi.nlm.nih.gov]

Lafora's disease An AR neurometabolic disorder characterized by progressive myoclonus epilepsy and mental deterioration beginning in adolescence, ending in dementia Management Seizure control Prognosis Poor; death within 10 yrs of onset Lafora's disease [medical-dictionary.thefreedictionary.com]

What is the prognosis for patients with Lafora disease? At this time, the prognosis for persons affected by Lafora disease is, unfortunately, poor. [epilepsy.com]

Diagnosis - Lafora disease Prognosis - Lafora disease Not supplied. Treatment - Lafora disease There is no treatment, and therapy is mainly supportive and symptomatic. [checkorphan.org]

Metabolic etiologies: mitochondrial disorders (MERRF), neuronal ceroid lipofuscinosis, sialidosis. [epilepsydiagnosis.org]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.com]

Summary Dementia syndromes are diseases of complex etiology and often a shared clinical picture. That causes great difficulties in the diagnosis. [czytelniamedyczna.pl]

The diagnostic workup for hepatitis, infectious etiologies, autoimmune disorders, hemochromatosis, Wilson's disease, alpha-1 antitrypsin deficiency, and other related diseases was inconclusive. [cureus.com]

The etiology of Lafora disease and progression of the disorder are described. Implications for treatment of the disorder and palliative care are briefly discussed. [thefreelibrary.com]

Cerebellar ataxia and/or involuntary movements Epidemiology Transmitted in an autosomal recessive fashion. Onset is in late childhood to adolescence (age 11 to 18 with a mean age of 14). [wiki.med.umich.edu]

DISCUSSION: We described several novel mutations of EPM2A and NHLRC1 and brought additional data to the genetic epidemiology of LD. [ncbi.nlm.nih.gov]

2 : Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase : 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) ● Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology [neuromuscular.wustl.edu]

Life course epidemiology of trauma and related psychopathology in civilian populations. Curr Psychiatry Rep. 2015;17:31. 25. Bäärnhielm S, Laban K, Schouler-Ocak M, Rousseau C, Kirmayer LJ. [bjp.org.br]

The idea that mental illnesses could be uniformly formulated across the globe gained ground, thanks to epidemiological data and the “medicalization of psychiatry” movement, 48 among other reasons. [scielo.br]

In the last years, several reports have revealed molecular details of these two proteins and have identified several processes affected in LD, but the pathophysiology of the disease still remains largely unknown. [ncbi.nlm.nih.gov]

Pathophysiology A mutation in the EPM2A gene is the culprit in a majority of cases (80%). This gene encodes laforin, which is a tyrosine kinase inhibitor that plays a significant role in the regulation of glycogen metabolism. [wiki.med.umich.edu]

However, pathophysiology of this serious disorder warrants meticulous research in future. The diagnosis can be established by the detection of intra-cytoplasmic basophilic inclusions also called LBs. [cureus.com]

Lafora disease: epidemiology, pathophysiology and management. CNS Drugs 2010; 24:549-561. [dusunenadamdergisi.org]

Furthermore, these data distinguish malin as an E3 Ub ligase whose activity is necessary to prevent a neurodegenerative disease that involves formation of nonproteinacious inclusion bodies. [ncbi.nlm.nih.gov]

Mutations in the EPM2A gene prevent cells from making functional laforin, while NHLRC1 gene mutations prevent the production of functional malin. It is unclear how a loss of either of these proteins leads to the formation of Lafora bodies. [ghr.nlm.nih.gov]

This framework is necessary for a transdisciplinary, preventive genetic services, and likely gene therapy. [ijnpnd.com]