出典: meddic


Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/08/06 09:43:51」(JST)

wiki en

[Wiki en表示]

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.


  • Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.
  • Lu JY1, Nelvagal HR2, Wang L1, Birnbaum SG3, Cooper JD2, Hofmann SL4.
  • Molecular genetics and metabolism.Mol Genet Metab.2015 May 12. pii: S1096-7192(15)30012-3. doi: 10.1016/j.ymgme.2015.05.005. [Epub ahead of print]
  • The neuronal ceroid lipofuscinoses (NCLs) are a group of related hereditary lysosomal storage disorders characterized by progressive loss of neurons in the central nervous system resulting in dementia, loss of motor skills, seizures and blindness. A characteristic intralysosomal accumulation of auto
  • PMID 25982063
  • Experimental therapies in the neuronal ceroid lipofuscinoses.
  • Neverman NJ1, Best HL1, Hofmann SL2, Hughes SM3.
  • Biochimica et biophysica acta.Biochim Biophys Acta.2015 May 6. pii: S0925-4439(15)00132-5. doi: 10.1016/j.bbadis.2015.04.026. [Epub ahead of print]
  • The neuronal ceroid lipofuscinoses represent a group of severe childhood lysosomal storage diseases. With at least 13 identified variants they are the most common cause of inherited neurodegeneration in children. These diseases share common pathological characteristics including motor problems, visi
  • PMID 25957554
  • Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.
  • Whiting RE1, Pearce JW2, Castaner LJ3, Jensen CA3, Katz RJ4, Gilliam DH5, Katz ML1.
  • Experimental eye research.Exp Eye Res.2015 May;134:123-32. doi: 10.1016/j.exer.2015.02.012. Epub 2015 Feb 16.
  • The CLN2 form of neuronal ceroid lipofuscinosis is an autosomal recessively inherited lysosomal storage disease that is characterized by progressive vision loss culminating in blindness, cognitive and motor decline, neurodegeneration, and premature death. CLN2 disease results from mutations in the g
  • PMID 25697710


  • Left ventricular hypertrabeculation/noncompaction in juvenile neuronal ceroid lipofuscinosis
  • Finsterer Josef,Stöllberger Claudia,Yoshida Taemi
  • 臨床神経学 55(3), 185-185, 2015
  • NAID 130004921330
  • Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report
  • Murata Shinya,Kasiwagi Mitsuru,Tanabe Takuya,Nakajima Osamu,Tamai Hiroshi
  • 臨床神経学 55(3), 186-187, 2015
  • NAID 130004921329
  • 初期の臨床症状として視覚障害を呈した神経セロイドリポフスチン症のチワワの1例 (日本獣医師会学会学術誌) -- (小動物臨床関連部門)
  • 中本 裕也,大和 修,松永 悟 [他]
  • 日本獣医師会雑誌 = Journal of the Japan Veterinary Medical Association 67(11), 862-865, 2014-11
  • NAID 40020263361


Neuronal ceroid lipofuscinoses (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues.
lipofuscinosis /lipo·fus·cin·o·sis/ (-fu″sin-o´sis) any disorder due to abnormal storage of lipofuscins. neuronal ceroid-lipofuscinosis any of several genetic lipidoses characterized by progressive neurodegeneration, loss of vision, and a fatal ...


Ceroid LipofuscinosisNeuronal Ceroid LipofuscinosisNeuronal Ceroid LipofuscinosisNeuronal Ceroid LipofuscinosisNeuronal Ceroid LipofuscinosisNeuronal Ceroid Lipofuscinosis in Border

拡張検索neuronal ceroid-lipofuscinosis」「late infantile neuronal ceroid lipofuscinosis」「neuronal ceroid lipofuscinosis

neuronal ceroid-lipofuscinosis」



Batten disease

late infantile neuronal ceroid lipofuscinosis」

  [★] 遅発乳児型神経元セロイドリポフスチン沈着症

neuronal ceroid lipofuscinosis」

  [★] 神経性セロイドリボフスチノーシス