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(Kufs disease)
2,069 results
  • Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. [Journal Article]
  • BDBrain Dev 2019 Apr 24
  • Matsumoto A, Nagashima M, … Osaka H
  • CONCLUSIONS: A total of 130 cases of NCL with CLN6 mutations have been reported globally, of which only four were from Japan including the current patient. The deletion of serine at position 265 has been reported in six cases. Ser265 is located in a region of short repeated sequences that is susceptible to mutation. Clinical trials of gene therapy using adeno-associated virus serotype 9 have started for NCL6, making early diagnosis crucial. OCT examination might be helpful in achieving a diagnosis.
  • MFSD8 gene mutations; evidence for phenotypic heterogeneity. [Journal Article]
  • OGOphthalmic Genet 2019; 40(2):141-145
  • Zare-Abdollahi D, Bushehri A, … Khorram Khorshid HR
  • CONCLUSIONS: Here and for the first time, we reported on two previously variant late-infantile neuronal ceroid lipofuscinoses-associated variants in MFSD8 but in association with a form of cone-rod dystrophy known as non-syndromic macular dystrophy with central cone involvement. Our results support this concept that variant late-infantile neuronal ceroid lipofuscinoses and non-syndromic macular dystrophy with central cone involvement are not different disease entities, but rather allelic diseases and phenotypic variants of the same mutation. Consideration of the milder MFSD8 phenotypes is important against the potentially severe consequences of life-threatening conditions associated with MFSD8 mutations in order to prevent the danger of misdiagnosis as well as the accuracy of genetic counseling.
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