Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

OBJECTIVE: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is caused by mutations in CSF1R. Pathogenic mutations in exons 12–22 including coding sequence of the tyrosine kinase domain (TKD) of CSF1R were previously identified. We aimed to identify CSF1R mutations in p...

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Bibliographic Details
Published in:J Neurol
Main Authors: Miura, Takeshi, Mezaki, Naomi, Konno, Takuya, Iwasaki, Akio, Hara, Naoyuki, Miura, Masatomo, Funayama, Michitaka, Unai, Yuki, Tashiro, Yuichi, Okita, Kenji, Kihara, Takeshi, Ito, Nobuo, Kanatsuka, Yoichi, Jones, David T., Hara, Norikazu, Ishiguro, Takanobu, Tokutake, Takayoshi, Kasuga, Kensaku, Nozaki, Hiroaki, Dickson, Dennis W., Onodera, Osamu, Wszolek, Zbigniew K., Ikeuchi, Takeshi
Format: Artigo
Language:Inglês
Published: Springer Berlin Heidelberg 2018
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Original Communication
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6182692/
https://ncbi.nlm.nih.gov/pubmed/30136118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-018-9017-2
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