Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

Neuromuscular Disorders

Volumn 23, Issue 5, 2013, Pages 399-403

  Cottenie, Ellen ^a   Menezes, Manoj P ^a,b   Rossor, Alexander M ^a   Morrow, Jasper M ^a   Yousry, Tarek A ^c   Dick, David J ^d   Anderson, Janice R ^e   Jaunmuktane, Zane ^a   Brandner, Sebastian ^a   Blake, Julian C ^a,d   Houlden, Henry ^a   Reilly, Mary M ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Charcot Marie Tooth disease; Chronic inflammatory demyelinating polyradiculoneuropathy; FIG4

Indexed keywords

METHYLPREDNISOLONE;

ADULT; ARM WEAKNESS; ARTICLE; BRAIN RADIOGRAPHY; CASE REPORT; CHARCOT MARIE TOOTH DISEASE TYPE 4J; CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY; CLINICAL EXAMINATION; DEMYELINATING NEUROPATHY; DISEASE DURATION; DISEASE SEVERITY; EXON; FEMUR FRACTURE; FIG4 GENE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; MOTOR NERVE CONDUCTION; MUSCLE HYPOTONIA; MUSCLE STRENGTH; NERVE BIOPSY; NERVE BLOCK; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROPRIOCEPTION; REFLEX DISORDER; SEQUENCE ANALYSIS; TREATMENT DURATION;

ADULT; AXONS; CHARCOT-MARIE-TOOTH DISEASE; DIAGNOSIS, DIFFERENTIAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING;

EID: 84876087894     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.01.010     Document Type: Article

References (12)

1. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974, 6:98-118.
2. Harding A.E., Thomas P.K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980, 103:259-280.
3. Houlden H., King R., Blake J., et al. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain 2006, 129:411-425.
4. Houlden H., Laura M., Ginsberg L., et al. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscul Disord 2009, 19:264-269.
5. Michell A.W., Laura M., Blake J., et al. GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment. J Neurol Neurosurg Psychiatry 2009, 80:699-700.
6. Chow C.Y., Zhang Y., Dowling J.J., et al. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 2007, 448:68-72.
7. Murphy S.M., Laurá M., Blake J., Polke J., Bremner F., Reilly M.M. Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation. Neuromuscul Disord 2011, 21:223-226.
8. Donaghy M., Sisodiya S.M., Kennett R., McDonald B. Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. J Neurol Neurosurg Psychiatry 2000, 69:799-805.
9. Ginsberg L., Malik O., Kenton A.R., et al. Coexistent hereditary and inflammatory neuropathy. Brain 2004, 127:193-202.
10. Nicholson G., Lenk G.M., Reddel S.W., et al. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P phosphatase FIG4. Brain 2011, 134:1959-1971.
11. Zhang X., Chow C.Y., Sahenk Z., Shy M.E., Meisler M.H., Li J. Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain 2008, 131:1990-2001.
12. Chow C.Y., Landers J.E., Bergren S.K., et al. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 2009, 84:85-88.