Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome.
Faheem ArshadSeena VengalilAtchayaram NaliniKiran PolavarapuUzma ShamimShumyla JabeenChandana NagarajSubasree RamakrishnanMohammad FaruqSuvarna AlladiPublished in: Acta neurologica Scandinavica (2021)
This is the first study of a rare novel TBK1 variant associated with FTD-ALS from India. Asymptomatic family members with the variant have important clinical implications and necessitate the genetic evaluation and long-term follow-up of family members of patients detected with TBK1 mutations. Therefore, although infrequent, genetic screening for the TBK1 gene should be considered when encountering overlap FTD syndromes.