Infantile neuronal ceroid lipofuscinosis information
Medical condition
Infantile neuronal ceroid lipofuscinosis
Other names
Santavuori disease, Hagberg-Santavuori disease, Santavuori-Haltia disease, Infantile Finnish type neuronal ceroid lipofuscinosis, Balkan disease
Specialty
Endocrinology
Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease[1] or Hagberg-Santavuori disease[2] or Santavuori-Haltia disease[2] or Infantile Finnish type neuronal ceroid lipofuscinosis[3] or Balkan disease[3] is a form of NCL and inherited as a recessive autosomal genetic trait. The disorder is progressive, degenerative and fatal, extremely rare worldwide – with approximately 60 official cases reported by 1982,[4] perhaps 100 with the condition in total today[citation needed][when?] – but relatively common in Finland due to the local founder effect.
^Santavuori P, Haltia M, Rapola J (October 1974). "Infantile type of so-called neuronal ceroid-lipofuscinosis". Dev Med Child Neurol. 16 (5): 644–53. doi:10.1111/j.1469-8749.1974.tb04183.x. PMID 4371326. S2CID 23169241.
Neuronalceroidlipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that...
Late InfantileNeuronalCeroidLipofuscinosis" at ClinicalTrials.gov Worgall S, Sondhi D, Hackett NR, et al. (May 2008). "Treatment of late infantile neuronal...
in symptomatic children over three years old with late infantileneuronalceroidlipofuscinosis type 2 (CLN2). The disease is also known as tripeptidyl...
Ceroid-lipofuscinosisneuronal protein 6 is a protein that in humans is encoded by the CLN6 gene. The CLN6 protein is part of the EGRESS complex (ER-to-Golgi...
(1985). "Glial filaments are a major brain fraction in infantileneuronalceroid-lipofuscinosis". Acta Neuropathologica. 65 (3–4): 190–194. doi:10.1007/bf00686997...
J, Peltonen L (June 1993). "Refined assignment of the infantileneuronalceroidlipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium...
2 to 1p32 and its exclusion as the causative gene for infantileneuronalceroidlipofuscinosis". Hum. Mol. Genet. 3 (2): 341–6. doi:10.1093/hmg/3.2.341...
"Mutations in CLN7/MFSD8 are a common cause of variant late-infantileneuronalceroidlipofuscinosis". Brain. 132 (Pt 3): 810–9. doi:10.1093/brain/awn366. PMID 19201763...
(February 2009). "A novel mutation in the MFSD8 gene in late infantileneuronalceroidlipofuscinosis". Neurogenetics. 10 (1): 73–7. doi:10.1007/s10048-008-0153-1...
epilepsy with ragged red fibers (MERRF syndrome), Lafora disease, neuronalceroidlipofuscinosis, and sialidosis. The latest 2017 ILAE classification of epilepsy...
Mexican siblings with infantile onset of progressive myoclonic epilepsy and pathologic findings of neuronalceroidlipofuscinosis in multiple cell types...
(POU4F1) maps close to the locus for the variant late infantile form of neuronalceroid-lipofuscinosis". Cytogenetics and Cell Genetics. 74 (3): 225–6. doi:10...
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