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Amyloid
The Journal of Protein Folding Disorders
Volume 31, 2024 - Issue 1
70
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Letters to the Editor

Intra-familial variability of oculoleptomeningeal amyloidosis due to the ATTR I107M (c.381T > G) mutation: diagnostic challenges of a rare phenotype

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Pages 70-72 | Received 03 Jul 2023, Accepted 12 Sep 2023, Published online: 27 Sep 2023

References

  • Qin Q, Wei C, Piao Y, et al. Current review of leptomeningeal amyloidosis associated with transthyretin mutations. Neurologist. 2021;26(5):189–195. doi:10.1097/NRL.0000000000000337.
  • Mathieu F, Morgan E, So J, et al. Oculoleptomeningeal amyloidosis secondary to the rare transthyretin c.381T > G (p.Ile127Met) mutation. World Neurosurg. 2018;111:190–193. doi:10.1016/j.wneu.2017.12.096.
  • Sousa L, Coelho T, Taipa R. CNS involvement in hereditary transthyretin amyloidosis. Neurology. 2021;97(24):1111–1119. doi:10.1212/WNL.0000000000012965.
  • Suhr OB, Andersen O, Aronsson T, et al. Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden. Amyloid. 2009;16(4):208–214. doi:10.3109/13506120903421587.
  • Takahashi Y, Oguchi K, Mochizuki Y, et al. Distribution and progression of cerebral amyloid angiopathy in early-onset V30M (p.V50M) hereditary ATTR amyloidosis. Amyloid. 2023;30(1):109–118. doi:10.1080/13506129.2022.2128331.

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