Molecular basis of inherited neuropathies

Current Opinion in Neurology

Volumn 12, Issue 5, 1999, Pages 603-616

  Schenone, Angelo ^a   Mancardi, Gian Luigi ^b  

^a UNIVERSITY OF GENOA   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; FATTY ACID BINDING PROTEIN; MYELIN; MYELIN PROTEIN;

DISEASE CLASSIFICATION; EARLY RESPONSE GENE; GENE MUTATION; GENE OVEREXPRESSION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INHERITANCE; NEUROPATHY; PATHOGENESIS; PHENOTYPE; POINT MUTATION; REVIEW;

ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; DISEASE MODELS, ANIMAL; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); NERVOUS SYSTEM DISEASES; PARALYSIS; PERIPHERAL NERVOUS SYSTEM DISEASES; X CHROMOSOME;

EID: 0033385182     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199910000-00015     Document Type: Review

References (121)

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94. 94 Sahenk Z, Chen L, Mendell JR. Effects of PMP22 duplication and deletion on the axonal cytoskeleton. Ann Neurol 1999; 45:16-24. In this paper the authors convincingly demonstrated that grafting sural nerves from CMT-1A patients into nude mice sciatic nerves determines distal axonal loss, axonal atrophy and degeneration, and fibre loss in the transplanted nerves, thus suggesting that Schwann cells carrying PMP-22 duplication alter axonal maintenance. Similar, although significantly less evident, changes in axonal organization have been found in xenografts from HNPP patients.
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