title: Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.
abstract: Charcot-Marie-Tooth disease (CMT) comprises a heterogeneous group of hereditary motor and sensory peripheral neuropathies. The autosomal recessive axonal form of CMT (ARCMT2) is rare. Eight patients of a large consanguineous family of Spanish ancestry in Costa Rica were diagnosed with ARCMT2B; previous genetic studies of this family revealed linkage to chromosome 19q13.3. The clinical and electrophysiological features of these patients are reported. All patients presented with a symmetric motor and sensory neuropathy, which was more pronounced in the lower limbs. Further, distal muscle wasting and impaired deep tendon reflexes were found. Age at onset was between 26 and 42 years, and the disease duration ranged from 2 to 19 years. Electrophysiological studies revealed a primary axonal degenerative process. The clinical characteristics of this family differed in several aspects from previously reported families with ARCMT2.
authors.affiliation: Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.
authors.forename: Corinna
authors.initials: C
authors.lastname: Berghoff
authors.forename: Martin
authors.initials: M
authors.lastname: Berghoff
authors.forename: Alejandro
authors.initials: A
authors.lastname: Leal
authors.forename: Bernal
authors.initials: B
authors.lastname: Morera
authors.forename: Ramiro
authors.initials: R
authors.lastname: Barrantes
authors.forename: André
authors.initials: A
authors.lastname: Reis
authors.forename: Bernhard
authors.initials: B
authors.lastname: Neundörfer
authors.forename: Bernd
authors.initials: B
authors.lastname: Rautenstrauss
authors.forename: Gerardo
authors.initials: G
authors.lastname: Del Valle
authors.forename: Dieter
authors.initials: D
authors.lastname: Heuss
mesh_terms: D000200:Action Potentials / Q000502:physiology; D000328:Adult; D017668:Age of Onset; D001284:Atrophy / Q000503:physiopathology; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D003364:Costa Rica / Q000208:ethnology; D004576:Electromyography / Q000379:methods; D004594:Electrophysiology / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D010525:Peripheral Nerves / Q000503:physiopathology*; D011930:Reaction Time / Q000502:physiology; D012026:Reflex, Stretch / Q000502:physiology