OBJECTIVES AND METHODS: Seven families were studied with an axonal form of Charcot-Marie-Tooth disease (CMT) associated with mutations in the peripheral myelin protein zero (MPZ) gene-Thr124Met or Asp75Val. RESULTS: Patients with these mutations commonly showed relatively late onset sensorimotor neuropathy predominantly involving the lower limbs. Sensory impairment typically was marked, and distal muscle atrophy and weakness were also present in the legs. Adie's pupil and deafness were often present, and serum creatine kinase concentrations were often raised irrespective of which MPZ mutation was present. Relatively well preserved motor and sensory nerve conduction velocities contrasted with reduced or absent compound muscle action potentials and sensory nerve action potentials. Axonal change with marked axonal sprouting was seen in sural nerve specimens. CONCLUSION: The similar associated clinical findings suggest that patients with axonal CMT with an MPZ gene mutation share distinctive clinical features.
OBJECTIVES AND METHODS: Seven families were studied with an axonal form of Charcot-Marie-Tooth disease (CMT) associated with mutations in the peripheral myelin protein zero (MPZ) gene-Thr124Met or Asp75Val. RESULTS:Patients with these mutations commonly showed relatively late onset sensorimotor neuropathy predominantly involving the lower limbs. Sensory impairment typically was marked, and distal muscle atrophy and weakness were also present in the legs. Adie's pupil and deafness were often present, and serum creatine kinase concentrations were often raised irrespective of which MPZ mutation was present. Relatively well preserved motor and sensory nerve conduction velocities contrasted with reduced or absent compound muscle action potentials and sensory nerve action potentials. Axonal change with marked axonal sprouting was seen in sural nerve specimens. CONCLUSION: The similar associated clinical findings suggest that patients with axonal CMT with an MPZ gene mutation share distinctive clinical features.
Authors: K i Misu; N Hattori; M Nagamatsu; S i Ikeda; Y Ando; M Nakazato; Y i Takei; N Hanyu; Y Usui; F Tanaka; T Harada; A Inukai; Y Hashizume; G Sobue Journal: Brain Date: 1999-10 Impact factor: 13.501
Authors: T Yoshihara; M Yamamoto; M Doyu; K I Mis; N Hattori; Y Hasegawa; K Mokuno; T Mitsuma; G Sobue Journal: Hum Mutat Date: 2000-08 Impact factor: 4.878
Authors: L E Warner; M J Hilz; S H Appel; J M Killian; E H Kolodry; G Karpati; S Carpenter; G V Watters; C Wheeler; D Witt; A Bodell; E Nelis; C Van Broeckhoven; J R Lupski Journal: Neuron Date: 1996-09 Impact factor: 17.173
Authors: K Ben Othmane; L T Middleton; L J Loprest; K M Wilkinson; F Lennon; M P Rozear; J M Stajich; P C Gaskell; A D Roses; M A Pericak-Vance Journal: Genomics Date: 1993-08 Impact factor: 5.736
Authors: K Hayasaka; M Himoro; W Sato; G Takada; K Uyemura; N Shimizu; T D Bird; P M Conneally; P F Chance Journal: Nat Genet Date: 1993-09 Impact factor: 38.330
Authors: J M Kwon; J L Elliott; W C Yee; J Ivanovich; N J Scavarda; P J Moolsintong; P J Goodfellow Journal: Am J Hum Genet Date: 1995-10 Impact factor: 11.025
Authors: Tongyu Cao; Peter Racz; Kornelia M Szauter; Gergely Groma; Garrett Y Nakamatsu; Benjamin Fogelgren; Eszter Pankotai; Qing-Ping He; Katalin Csiszar Journal: J Invest Dermatol Date: 2007-02-01 Impact factor: 8.551
Authors: Joseph B Nadol; E Tessa Hedley-Whyte; Sami Samir Amr; Jennifer T O Apos Malley; Takefumi Kamakura Journal: Audiol Neurootol Date: 2019-01-24 Impact factor: 1.854
Authors: Hugh J McMillan; Sandro Santagata; Frederic Shapiro; Sat Dev Batish; Libby Couchon; Stephen Donnelly; Peter B Kang Journal: Neuromuscul Disord Date: 2010-11 Impact factor: 4.296
Authors: Carly E Siskind; Seema Panchal; Corrine O Smith; Shawna M E Feely; Joline C Dalton; Alice B Schindler; Karen M Krajewski Journal: J Genet Couns Date: 2013-04-21 Impact factor: 2.537
Authors: Leah R Reznikov; Qian Dong; Jeng-Haur Chen; Thomas O Moninger; Jung Min Park; Yuzhou Zhang; Jianyang Du; Michael S Hildebrand; Richard J H Smith; Christoph O Randak; David A Stoltz; Michael J Welsh Journal: Proc Natl Acad Sci U S A Date: 2013-02-04 Impact factor: 11.205
Authors: Elena Gallardo; Antonio García; César Ramón; Elías Maraví; Jon Infante; Itziar Gastón; Ángel Alonso; Onofre Combarros; Peter De Jonghe; José Berciano Journal: J Neurol Date: 2009-12 Impact factor: 4.849