References
Klein CJ (2012) DNMT1-related disorder. GeneReviews((R)). https://www.ncbi.nlm.nih.gov/books/NBK84112. Accessed on 3 July 2019
Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ (2011) Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet 43(6):595–600
Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV et al (2015) Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain 138(Pt 4):845–861
Klein CJ, Duan X, Shy ME (2013) Inherited neuropathies: clinical overview and update. Muscle Nerve 48(4):604–622
Yuan J, Higuchi Y, Nagado T, Nozuma S, Nakamura T, Matsuura E, Hashiguchi A, Sakiyama Y, Yoshimura A, Takashima H (2013) Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE. J Peripher Nerv Syst 18(1):89–93
Watanabe M, Matsumoto Y, Okamoto K, Okuda B, Mizuta I, Mizuno T (2017) A case of hereditary sensory and autonomic neuropathy type 1E with frontal lobe dysfunction as an initial symptom. Rinsho Shinkeigaku 57(12):753–758
Zheng W, Yan Z, He R, Huang Y, Lin A, Huang W, Su Y, Li S, Zhang VW, Xie H (2018) Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE. BMC Neurol 18(1):174
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Ethical approval
All the authors declare compliance with ethical standards.
Additional information
Publisher’s note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Coelho, P., Oliveira Santos, M. First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene. Neurol Sci 41, 1289–1290 (2020). https://doi.org/10.1007/s10072-019-04179-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10072-019-04179-6