Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy

Muscle and Nerve

Volumn 38, Issue 1, 2008, Pages 921-923

  Briani, Chiara ^a   Adami, Fausto ^a   Cavallaro, Tiziana ^b   Taioli, Federica ^b   Ferrari, Sergio ^b   Fabrizi, Gianmaria ^b  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

Amyloidosis; Charcot Marie Tooth; CMT1B; Myelin protein zero; Neuropathy

Indexed keywords

MYELIN PROTEIN;

ADIE SYNDROME; AGED; AMYLOID NEUROPATHY; AMYLOIDOSIS; AREFLEXIA; ARTICLE; ATAXIA; AXONAL NEUROPATHY; BLOOD ANALYSIS; CASE REPORT; DIAGNOSTIC ERROR; ECHOCARDIOGRAPHY; ECHOGRAPHY; ELECTROCARDIOGRAM; ELECTRON MICROSCOPY; FEMALE; GAIT DISORDER; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; KIDNEY FUNCTION; LIVER FUNCTION; MACROGLOSSIA; MYELIN PROTEIN ZERO GENE; NERVE BIOPSY; NEUROLOGIC EXAMINATION; PAIN; PARESTHESIA; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SURAL NERVE; URINALYSIS; WASTING SYNDROME; WEAKNESS;

AMYLOID NEUROPATHIES; AXONS; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; DIAGNOSIS, DIFFERENTIAL; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GAIT DISORDERS, NEUROLOGIC; HUMANS; IMMUNOGLOBULIN LIGHT CHAINS; MIDDLE AGED; MYELIN P0 PROTEIN; NERVE TISSUE PROTEINS; PARESTHESIA; SURAL NERVE;

EID: 46249104929     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21062     Document Type: Article

References (6)

1. Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry 1999;66:779-782.
2. Davies DR, Smith SE. Pupil abnormality in amyloidosis with autonomic neuropathy. J Neurol Neurosurg Psychiatry 1999;67:819-822.
3. Fabrizi GM, Cavallaro T, Angiari C, Bertolasi L, Cabrini I, Ferrarini M, et al. Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. Neurology 2004;62: 1429-1431.
4. Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 1998;50:1397-1401.
5. Rosenberg NR, Vermeulen M. Chronic idiopathic axonal polyneuropathy revisited. J Neurol 2004;251:1128-1132.
6. Shy ME. Peripheral neuropathies caused by mutations in the myelin protein zero. J Neurol Sci 2006;242:55-66.