Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy

European Journal of Neurology

Volumn 13, Issue 10, 2006, Pages 1149-1152

  Finsterer, J ^a,d   Miltenberger, G ^b   Rauschka, H ^c   Janecke, A ^b  

^a KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

^b Genetische Beratungs und Untersuchungsstelle   (Austria)

^c GENERAL HOSPITAL LINZ   (Austria)

^d NONE   (Austria)

Author keywords

Axonal loss; Demyelination; Genetics; Hereditary neuropathy; Nerve conduction

Indexed keywords

MYELIN PROTEIN;

ADULT; ARTICLE; CASE REPORT; DISEASE SEVERITY; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LEG MUSCLE; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; POLYNEUROPATHY; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY; TENDON REFLEX;

CHARCOT-MARIE-TOOTH DISEASE; EXONS; FEMALE; HUMANS; MIDDLE AGED; MUTATION; MYELIN P0 PROTEIN; POLYNEUROPATHIES; PROTEIN SORTING SIGNALS; SURAL NERVE;

EID: 33748920212     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2006.01479.x     Document Type: Article

References (17)

1. Donaghy M, Sisodiya SM, Kennett R, McDonald B, Haites N, Bell C. Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. Journal of Neurology, Neurosurgery and Psychiatry 2000; 69: 799-805.
2. Eggers SD, Keswani SC, Melli G, Cornblath DR. Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation. Muscle and Nerve 2004; 29: 867-869.
3. Shy ME, Jani A, Krajewski K et al. Phenotypic clustering in MPZ mutations. Brain 2004; 127: 371-384.
4. Fabrizi GM, Ferrarini M, Cavallaro T, Jarre L, Polo A, Rizzuto N. A somatic and germline mosaic mutation in MPZ/P (0) mimics recessive inheritance of CMT1B. Neurology 2001; 57: 101-105.
5. Lee MJ, Calle E, Brennan A et al. In early development of the rat mRNA for the major myelin protein P(0) is expressed in nonsensory areas of the embryonic inner ear, notochord, enteric nervous system, and olfactory ensheathing cells. Developmental Dynamics 2001; 222: 40-51.
6. Auer-Grumbach M, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K. Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology 2003; 61: 1435-1437.
7. Boerkoel CF, Takashima H, Garcia CA et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Annals of Neurology 2002; 51: 190-201.
8. 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 1999; 50: 1397-1401.
9. Senderek J, Hermanns B, Lehmann U et al. Charcot-Marie-Tooth neuropathy type 2 and PO point mutations: two novel amino acid substitutions (asp61gly; tyr119cys) and a possible 'hotspot' on thr124met. Brain Pathology 2000; 10: 235-248.
10. Baloh RH, Jen JC, Kim G, Baloh RW. Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene). Neurology 2004; 62: 1905-1906.
11. Kurihara S, Adachi Y, Imai C et al. Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation. Journal of Neurology, Neurosurgery and Psychiatry 2004; 75: 1492-1494.
12. Starr A, Michalewski HJ, Zeng FG et al. Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145- > Ser). Brain 2003; 126: 1604-1619.
13. Szigeti K, Sai. GM, Armstrong D, Belmont JW, Miller G, Lupski JR. Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Annals of Neurology 2003; 54: 398-402.
14. De Angelis MV, Di Muzio A, Capasso M et al. Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene. Neurology 2004; 63: 2180-2183.
15. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Research 2003; 31: 3568-3571.
16. Tandan R, Taylor R, Adesina A, Sharma K, Fries T, Pendlebury W. Benign autosomal dominant syndrome of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and dementia. Neurology 1990; 40: 773-779.
17. Misu K, Yoshihara T, Shikama Y et al. An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). Journal of Neurology, Neurosurgery and Psychiatry 2000; 69: 806-811.