An identical mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report.

Mutations in the gene have been found in patients with various neurodegenerative diseases, and the spectrum is still expanding. Here, we report a mutation in (c.175G > C, p.G59R) identified in two patients, who manifested dHMN and ALS, respectively, in an affected family. The clinical manifestations and eightyear follow-up suggested that this mutation is pathogenic. The phenomena observed in this family with the same mutation illustrate the clinical heterogeneity of gene mutations and expand our understanding of their genotype-phenotype relationships. Further research and functional experiments, especially mutation at amino acid position 59 of , are required.