Viorica Chelban, Matthew P Wilson, Jodi Warman Chardon, Jana Vandrovcova, M Natalia Zanetti, Eleni Zamba-Papanicolaou, Stephanie Efthymiou, Simon Pope, Maria R Conte, Giancarlo Abis, Yo-Tsen Liu, Eloise Tribollet, Nourelhoda A Haridy, Juan A Botía, Mina Ryten, Paschalis Nicolaou, Anna Minaidou, Kyproula Christodoulou, Kristin D Kernohan, Alison Eaton, Matthew Osmond, Yoko Ito, Pierre Bourque, James E C Jepson, Oscar Bello, Fion Bremner, Carla Cordivari, Mary M Reilly, Martha Foiani, Amanda Heslegrave, Henrik Zetterberg, Simon J R Heales, Nicholas W Wood, James E Rothman, Kym M Boycott, Philippa B Mills, Peter T Clayton, Henry Houlden
OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding...
August 2019: Annals of Neurology