Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history
We recommend a thorough genetic screening, including CNV analysis, for both familial and apparent sporadic FTLD patients. Furthermore, the presymptomatic carrier homozygous for the TMEM106B risk haplotype exemplifies the presence of other protective factors that modify disease onset and urges caution in genetic counselling based on the TMEM106B haplotype.
Authors
- John Cornelis Van Swieten (ORCID: https://orcid.org/0000-0001-6278-6844)
- Elise G.P. Dopper
- Renee van Buuren
- Rick van Minkelen (ORCID: https://orcid.org/0000-0003-2770-2646)
- Laura Donker Kaat (ORCID: https://orcid.org/0009-0007-2436-0931)
- Marina Arcaro (ORCID: https://orcid.org/0000-0002-3821-0682)
- Guido J. Breedveld (ORCID: https://orcid.org/0000-0002-4392-5906)
- Harro Seelaar (ORCID: https://orcid.org/0000-0003-1989-7527)
- Ana Rajicic (ORCID: https://orcid.org/0009-0003-6399-8170)
- Martina Wilke (ORCID: https://orcid.org/0000-0002-8115-8517)
- Lize Corrine Jiskoot (ORCID: https://orcid.org/0000-0002-1120-1858)
- Daniela Galimberti (ORCID: https://orcid.org/0000-0002-9284-5953)
- Julie F. H. De Houwer (ORCID: https://orcid.org/0009-0006-8180-0158)
Institutions
- University of Milan (IT)
- Erasmus MC (NL)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale Maggiore (IT)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2024-12-16
- DOI
- https://doi.org/10.1007/s00415-024-12758-7
- Citations
- 2
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.88