Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

  • Neurology. 2014 Nov 11;83(20):1873-5. doi: 10.1212/WNL.0000000000000981.
Joshua Hersheson  1 ,  Derek Burke  1 ,  Robert Clayton  1 ,  Glenn Anderson  1 ,  Thomas S Jacques  1 ,  Philippa Mills  1 ,  Nicholas W Wood  1 ,  Paul Gissen  1 ,  Peter Clayton  1 ,  Julian Fearnley  1 ,  Sara E Mole  1 ,  Henry Houlden  2
Affiliations
  • 1. From UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery (J.H., N.W.W., H.H.); Great Ormond Street Hospital for Children NHS Foundation Trust (D.B., G.A., T.S.J.); UCL Institute of Child Health (R.C., T.S.J., P.M., P.G.); Barts NHS Trust (J.F.), Royal London Hospital; and UCL (P.G., S.E.M.), London, UK.
  • 2. From UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery (J.H., N.W.W., H.H.); Great Ormond Street Hospital for Children NHS Foundation Trust (D.B., G.A., T.S.J.); UCL Institute of Child Health (R.C., T.S.J., P.M., P.G.); Barts NHS Trust (J.F.), Royal London Hospital; and UCL (P.G., S.E.M.), London, UK. [email protected].
PMID: 25298308 DOI: 10.1212/WNL.0000000000000981