Classification of the hereditary motor and sensory neuropathies

Department of Clinical Neurology, Institute of Neurology, National Hospital for Neurology, London Correspondence to Mary M. Reilly, Department of Clinical Neurology, Institute of Neurology, National Hospital for Neurology, Queen Square, London, UK. Tel: +44 020 7837 3611; fax: +44 0207 829 8757; e-mail: [email protected] Abbreviations AD: autosomal dominant AR: autosomal recessive CCFND: congenital cataracts facial dysmorphism neuropathy CHN: congenital hypomyelinating neuropathy CMT: Charcot-Marie-Tooth Cx 32: connexin 32 DSD: Dejerine-Sottas disease EGR: early growth response HMSN: hereditary motor and sensory neuropathy HMSNL: hereditary motor and sensory neuropathy Lom HNPP: hereditary neuropathy with liability to pressure palsies MTMR2: myotubularin-related protein 2 NDRG1: N-myc downstream-regulated gene NF-L: neurofilament-light gene PMP-22: peripheral myelin protein 22 Po: myelin protein zero