| 词条 | Spinal muscular atrophy with progressive myoclonic epilepsy |
| 释义 |
| name = Spinal muscular atrophy with progressive myoclonic epilepsy | synonyms = Hereditary myoclonus-progressive distal muscular atrophy syndrome | image = Autosomal recessive - en.svg | alt = | caption = This condition is inherited in an autosomal recessive manner | pronounce = | field = neurology | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy), predominantly affecting distal muscles, combined with denervation and myoclonic seizures.[1] Only 12 known families are described in scientific literature to have SMA-PME.[2] SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the ASAH1 gene and is inherited in an autosomal recessive manner.[3] SMA-PME is closely related to a lysosomal disorder disease called Farber lipogranulomatosis.[4] As with many genetic disorders, there is no known cure to SMA-PME. The condition was first described in 1979 by American researchers Joseph Jankovic and Victor M. Rivera.[5] ASAH1 GeneThe ASAH1 Gene codes for acid ceramidase which is an enzyme found in lysosomes. The lysosome breaks down acid ceramidase and the fatty acid component [6] is then used to produce myelin. Myelin is a coating around the nerves in the body which help transfer signals from nerve cell to nerve cell and increase transmission rate.[7] In patients with SMA-PME, the cermidase function is reduced to only be 33.33% effective.[2] The lack of myelin resulting from the lack of acid ceramidase break down leads to nerve cell damage. See also
References1. ^{{Cite journal | last1 = Haliloglu | first1 = G. | last2 = Chattopadhyay | first2 = A. | last3 = Skorodis | first3 = L. | last4 = Manzur | first4 = A. | last5 = Mercuri | first5 = E. | last6 = Talim | first6 = B. | last7 = Akçören | first7 = Z. | last8 = Renda | first8 = Y. | last9 = Muntoni | first9 = F. | doi = 10.1055/s-2002-37087 | last10 = Topaloğlu | first10 = H. | title = Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy: Report of New Cases and Review of the Literature | journal = Neuropediatrics | volume = 33 | issue = 6 | pages = 314–319 | year = 2002 | pmid = 12571787| pmc = }} 2. ^1 {{Cite web|url=https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy#genes|title=Spinal muscular atrophy with progressive myoclonic epilepsy|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2018-09-24}} 3. ^{{Cite journal | last1 = Zhou | first1 = J. | last2 = Tawk | first2 = M. | last3 = Tiziano | first3 = F. D. | last4 = Veillet | first4 = J. | last5 = Bayes | first5 = M. | last6 = Nolent | first6 = F. | last7 = Garcia | first7 = V. | last8 = Servidei | first8 = S. | last9 = Bertini | first9 = E. | last10 = Castro-Giner | first10 = F. | last11 = Renda | first11 = Y. | last12 = Carpentier | first12 = S. P. | last13 = Andrieu-Abadie | first13 = N. | last14 = Gut | first14 = I. | last15 = Levade | first15 = T. | last16 = Topaloglu | first16 = H. | last17 = Melki | first17 = J. | title = Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy is Caused by Mutations in ASAH1 | doi = 10.1016/j.ajhg.2012.05.001 | journal = The American Journal of Human Genetics | volume = 91 | issue = 1 | pages = 5–14 | year = 2012 | pmid = 22703880 | pmc =3397266 }} 4. ^{{Cite journal|date=2015-12-01|title=Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy|url=https://www.sciencedirect.com/science/article/pii/S0960896615007348|journal=Neuromuscular Disorders|language=en|volume=25|issue=12|pages=959–963|doi=10.1016/j.nmd.2015.09.007|pmid=26526000|issn=0960-8966|last1=Gan|first1=Joanna J.|last2=Garcia|first2=Virginie|last3=Tian|first3=Jane|last4=Tagliati|first4=Michele|last5=Parisi|first5=Joseph E.|last6=Chung|first6=Jeffrey M.|last7=Lewis|first7=Richard|last8=Baloh|first8=Robert|last9=Levade|first9=Thierry|last10=Pierson|first10=Tyler Mark}} 5. ^{{Cite journal | last1 = Jankovic | first1 = J. | last2 = Rivera | first2 = V. M. | doi = 10.1002/ana.410060309 | title = Hereditary myoclonus and progressive distal muscular atrophy | journal = Annals of Neurology | volume = 6 | issue = 3 | pages = 227–231 | year = 1979 | pmid = 534421| pmc = }} 6. ^{{Cite journal|last=Park|first=Jae-Ho|last2=Schuchman|first2=Edward H.|date=December 2006|title=Acid ceramidase and human disease|journal=Biochimica et Biophysica Acta|volume=1758|issue=12|pages=2133–2138|doi=10.1016/j.bbamem.2006.08.019|issn=0006-3002|pmid=17064658}} 7. ^{{Cite journal|last=Morell|first=Pierre|last2=Quarles|first2=Richard H.|date=1999|title=The Myelin Sheath|url=https://www.ncbi.nlm.nih.gov/books/NBK27954/|journal=Basic Neurochemistry: Molecular, Cellular and Medical Aspects. 6th Edition|language=en}} Further reading
External links{{Medical resources| ICD10 = G25.3 | ICD9 = | ICDO = | OMIM = 159950 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 2590 }}{{CNS diseases of the nervous system}}{{genetic-disorder-stub}}{{Nervoussystem-disease-stub}} 3 : Systemic atrophies primarily affecting the central nervous system|Neurogenetic disorders|Autosomal recessive disorders |
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