Finding the causes of inherited neuropathies

Archives of Neurology

Volumn 63, Issue 6, 2006, Pages 812-816

  Scherer, Steven S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; DISEASE CLASSIFICATION; GENE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NEUROPATHY; NONHUMAN; PMP22 GENE; PRIORITY JOURNAL; REVIEW; SCHWANN CELL;

HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS;

EID: 33745103200     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.63.6.812     Document Type: Review

References (13)

1. Lupski JR, Garcia CA. Charcot-Marie-Tooth peripheral neuropathies and related disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:5759-5788.
2. Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci. 2003;4:714-726.
3. Wrabetz L, Feltri ML, Kleopa KA, Scherer SS. Inherited neuropathies: clinical, genetic, and biological features. In: Lazzarini RA, ed. Myelin Biology and Disorders. San Diego, Calif: Elsevier; 2004:905-951.
4. Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. In: Dyck PJ, Thomas PK, eds. Peripheral Neuropathy. 4th ed. Philadelphia, Pa: Saunders; 2005:1623-1658.
5. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain. 1980;103:259-280.
6. Aguayo AJ, Attiwell M, Trecarten J, Perkins CS, Bray CM. Abnormal myelination in transplanted Trembler mouse Schwann cells. Nature. 1977;265:73-75.
7. Gabreëls-Festen A, Thomas PK. Autosomal recessive hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, eds. Peripheral Neuropathy. 4th ed. Philadelphia, Pa: Saunders; 2005:1769-1790.
8. Bibel M, Barde YA. Neurotrophins: key regulators of cell fate and cell shape in the vertebrate nervous system. Genes Dev. 2000;14:2919-2937.
9. Harding AE. Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral Neuropathy. 3rd ed. Philadelphia, Pa: Saunders; 1993:1051-1064.
10. Irobi J, DeJonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet. 2004;13:R195-R202.
11. van de Warrenburg BPC, Notermans NC, Schelhaas HJ, et al. Peripheral nerve involvement in spinocerebellar ataxias. Arch Neurol. 2004;61:257-261.
12. Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H, et al. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol. 2005;57:415-427.
13. Roy S, Zhang B, Lee VM, Trojanowski JQ. Axonal transport defects: a common theme in neurodegenerative diseases. Acta Neuropathol (Berl). 2005;109:5-13.