TDP-43 pathology is also recognised in several rare diseases including Perry disease: a progressive Parkinsonian syndrome with neuropsychiatric features and hypoventilation due to dominantly inherited rare variants in the dynactin-1 gene; and multisystem proteinopathy – a dominantly inherited disorder manifesting with Paget’s disease of bone, inclusion body myositis, ALS or FTD, and occurring due to variants in valosin-containing protein (VCP) and sequestosome-1 (SQSTM1) genes [8, 9]. This evidence concerns the gene TARDBP and amyotrophic lateral sclerosis.