Table of contents

Neurogenetics

• Review: Genetic counselling in ALS: facts, uncertainties and clinical suggestions (6 July, 2013) Free

  Adriano Chiò, Stefania Battistini, Andrea Calvo, Claudia Caponnetto, Francesca L Conforti, Massimo Corbo, Fabio Giannini, Jessica Mandrioli, Gabriele Mora, Mario Sabatelli, the ITALSGEN Consortium, Clara Ajmone, Enza Mastro, Debora Pain, Paola Mandich, Silvana Penco, Gabriella Restagno, Marcella Zollino, Antonella Surbone
• Research paper:

  Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

  (6 November, 2013)

  Arianna Tucci, Yo-Tsen Liu, Elisabeth Preza, Robert D S Pitceathly, Annapurna Chalasani, Vincent Plagnol, John M Land, Daniah Trabzuni, Mina Ryten, on behalf of UKBEC, Zane Jaunmuktane, Mary M Reilly, Sebastian Brandner, Iain Hargreaves, John Hardy, Andrew B Singleton, Andrey Y Abramov, Henry Houlden
• Research paper:

  Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

  (11 November, 2013)

  Yo-Tsen Liu, Joshua Hersheson, Vincent Plagnol, Katherine Fawcett, Kate E C Duberley, Elisavet Preza, Iain P Hargreaves, Annapurna Chalasani, Matilde Laurá, Nick W Wood, Mary M Reilly, Henry Houlden
• Research paper:

  The G1662S Na_V1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability

  (4 September, 2013)

  Chongyang Han, Dmytro Vasylyev, Lawrence J Macala, Monique M Gerrits, Janneke G J Hoeijmakers, Kim J Bekelaar, Sulayman D Dib-Hajj, Catharina G Faber, Ingemar S J Merkies, Stephen G Waxman
• Short report:

  Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

  (5 December, 2013)

  Pietro Fratta, James Charnock, Toby Collins, Anny Devoy, Robin Howard, Andrea Malaspina, Richard Orrell, Katie Sidle, Jan Clarke, Maryam Shoai, Ching-hua Lu, John Hardy, Vincent Plagnol, Elizabeth M C Fisher