Biomaterial Database

Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease. 2002

Berge A Minassian

Department of Pediatrics (Neurology), Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005936	Glucans	Polysaccharides composed of repeating glucose units. They can consist of branched or unbranched chains in any linkages.	Glucan,Polyglucose,Polyglucoses,Glucan (BO),Glucose Polymer,Polycose,Polymer, Glucose
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013116	Spinal Cord	A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.	Coccygeal Cord,Conus Medullaris,Conus Terminalis,Lumbar Cord,Medulla Spinalis,Myelon,Sacral Cord,Thoracic Cord,Coccygeal Cords,Conus Medullari,Conus Terminali,Cord, Coccygeal,Cord, Lumbar,Cord, Sacral,Cord, Spinal,Cord, Thoracic,Cords, Coccygeal,Cords, Lumbar,Cords, Sacral,Cords, Spinal,Cords, Thoracic,Lumbar Cords,Medulla Spinali,Medullari, Conus,Medullaris, Conus,Myelons,Sacral Cords,Spinal Cords,Spinali, Medulla,Spinalis, Medulla,Terminali, Conus,Terminalis, Conus,Thoracic Cords
D017027	Protein Tyrosine Phosphatases	An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis.	Phosphotyrosine Phosphatase,Protein-Tyrosine-Phosphatase,Tyrosyl Phosphoprotein Phosphatase,PTPase,Phosphotyrosyl Protein Phosphatase,Protein-Tyrosine Phosphatase,Phosphatase, Phosphotyrosine,Phosphatase, Phosphotyrosyl Protein,Phosphatase, Protein-Tyrosine,Phosphatase, Tyrosyl Phosphoprotein,Phosphatases, Protein Tyrosine,Phosphoprotein Phosphatase, Tyrosyl,Protein Phosphatase, Phosphotyrosyl,Protein Tyrosine Phosphatase,Tyrosine Phosphatases, Protein
D054558	Protein Tyrosine Phosphatases, Non-Receptor	A subcategory of protein tyrosine phosphatases that occur in the CYTOPLASM. Many of the proteins in this category play a role in intracellular signal transduction.	Non-Transmembrane Protein Tyrosine Phosphatases,Non Transmembrane Protein Tyrosine Phosphatases,Protein Tyrosine Phosphatases, Non Receptor
D018450	Disease Progression	The worsening and general progression of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.	Clinical Course,Clinical Progression,Disease Exacerbation,Exacerbation, Disease,Progression, Clinical,Progression, Disease
D020192	Lafora Disease	A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110).	Epilepsy, Progressive Myoclonic, Lafora,Progressive Myoclonic Epilepsy, Lafora Type,Epilepsy Progressive Myoclonic 2,Epilepsy, Progressive Myoclonic 2A,Lafora Body Disease,Lafora Body Disease, Late Onset,Lafora Body Disorder,Lafora Progressive Myoclonic Epilepsy,Lafora Progressive Myoclonus Epilepsy,Lafora Type Progressive Myoclonic Epilepsy,Lafora-Body Disease, Late Onset,Late Onset Lafora Body Disease,Myoclonic Epilepsy of Lafora,Progressive Myoclonic Epilepsy Type 2,Progressive Myoclonic Epilepsy, Lafora,Progressive Myoclonus Epilepsy, Lafora Type,Lafora Myoclonic Epilepsy