Kufs or not Kufs: challenging diagnostics of a rare adult-onset neurodegenerative disease

Affiliations

¹ Medicum, Clinical Proteomics Core Facility, University of Helsinki and Finnish Medicines Agency, Helsinki, Finland.
² Medicum, University of Helsinki and Folkhälsan Research Center, Helsinki, Finland.

Comment

Jaana Tyynelä et al. Brain. 2019.

. 2019 Jan 1;142(1):2-5.

doi: 10.1093/brain/awy312.

¹ Medicum, Clinical Proteomics Core Facility, University of Helsinki and Finnish Medicines Agency, Helsinki, Finland.
² Medicum, University of Helsinki and Folkhälsan Research Center, Helsinki, Finland.

No abstract available

Comment on

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534