Fig. 1

Family pedigree updated from Axelsson et al., 1984 and Sundal et al., 2012a. Black symbols indicate well-documented HDLS-S patients (with available hospital records and examinations in person); grey symbols indicate HDLS patients with more sparse documentation. White symbols indicate unaffected family members. Circles indicate females, squares indicate men. The proband is indicated by an arrowhead. A diagonal line through circles or squares indicates a deceased person. Asterisks (n = 6) indicate neuropathological examination demonstrating HDLS histopathology, as previously reported in Axelsson et al., 1984 and Sundal et al., 2012a and in the present case 1. The letter S under the symbols indicates suicide. A black horizontal line below circles or squares in 25 individuals in generation IV, including cases 1 and 2 in the present study, indicates that a standardized neurological examination and/or personal follow-up was performed during 2018. Sanger sequencing results for the presence or absence of the AARS p.Cys152Phe variant are shown as ‘+’ and ‘-‘, respectively