Abstract
Introduction Motor neuron disease (MND) can be sporadic or familial, with approximately 10% of patients being familial. A number of genetic variants have been found in patients with or without family history. We present the results of genetic testing of a cohort of MND patients diagnosed at Royal Brisbane and Women’s Hospital (RBWH).
Methods The criteria for genetic testing for our cohort were consenting MND patients with or without family history. Patients were tested for C9ORF72 repeat expansions and also with a panel of MND genes. The frequency of genetic variants and their clinical features were analysed and compared.
Results There were 47 patients with a genetic variant. The most common variants were in C9ORF72 (27 patients; 57%), SOD1 (12 patients; 26%) and TARDBP (4 patients; 9%). Other genes with variants were TBK1, SPAST, NEK1 and HSPB1 (one patient for each gene). The median age of onset was 50, 49 and 58 years for C9ORF72, SOD1 and TARDBP, respectively. Survival was 813, 850 and 1889 days for C9ORF72, SOD1 and TARDBP, respectively. The frequency of bulbar onset was 26%; 8% and 50% for C9ORF72, SOD1 and TARDBP, respectively. A family history of MND was present in 63%, 83% and 50% of C9ORF72, SOD1 and TARDP patients, respectively.
Conclusion The frequencies of genetic variants in our cohort are similar to what is described in European populations. Identification of genetic variants will aid the understanding of the associated phenotypes and identifying patients for possible therapy.
