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Research Digest
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| Mar. 02 |
"Stepwise" CMT might respond to immunosuppressants
Gabriel CM et al. Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a). J Neurol Neurosurg Psychiatry. 2002 Feb;72(2):230-5. [PubMed abstract] [MDA Technical Summary] |
| Mar. 02 |
Chimera: monster or savior? [MDA Technical Summary] Mack TGA et al. Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene. Nat Neurosci. 2001 Dec;4(12):1199-206. [PubMed abstract] Wang MS et al. The WldS protein protects against axonal degeneration: a model of gene therapy for peripheral neuropathy. Ann Neurol. 2001 Dec;50(6):773-9. [PubMed abstract] |
| Nov. 01 |
Unraveling Friedreich's ataxia
Patel PI and Isaya G et al. Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency. Am J Hum Genet. 2001 Jul;69(1):15-24. Review. [PubMed abstract] [MDA Technical Summary] |
| Nov. 01 |
Encouraging news for CMT gene therapy
Perea J et al. Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. Hum Mol Genet. 2001 May 1;10(10):1007-18. [PubMed abstract] [MDA Technical Summary] |
| Nov. 01 |
Disability in type 1 CMT underestimated, report says
Pfeiffer G et al. Disability and quality of life in Charcot-Marie-Tooth disease type 1. J Neurol Neurosurg Psychiatry. 2001 Apr;70(4):548-50. [PubMed abstract] [Quest] |
| July 01 |
CMT update: new genetic clues found
[Quest] Boerkoel CF et al. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb;68(2):325-33. [PubMed abstract] Guilbot A et al. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet. 2001 Feb 15;10(4):415-21. [PubMed abstract] Dawkins JL et al. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001 Mar;27(3):309-12. [PubMed abstract] |
| July 01 |
New mouse model of Friedreich's Ataxia created Puccio H el al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet. 2001 Feb;27(2):181-6. [PubMed abstract] [News Release] |
| July 01 |
Antioxidant may help heart in Friedreich's Ataxia [Quest] Emond M et al. Increased levels of plasma malondialdehyde in Friedreich ataxia. Neurology. 2000 Dec 12;55(11):1752-3. No abstract available [PubMed abstract] Schulz et al. Oxidative stress in patients with Friedreich ataxia. Neurology. 2000 Dec 12;55(11):1719-21. [PubMed abstract] Cavadini P et al. Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae. Hum Mol Genet. 2000 Oct 12;9(17):2523-30 [PubMed abstract] |
| Nov. 00 |
Friedreich's Ataxia Round-Up Role of frataxin in development, More evidence for iron accumulation and oxidative damage in FA, and mutation/symptom correlations; [MDA Technical Summary] |
| Nov. 00 |
Fa Linked to Decrease in Cellular Energy Lodi R et al. (1999): Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proceedings of the National Academy of Sciences, USA, 96(20):11492-11495 [PubMed abstract] [Quest] |
| Sept. 99 |
Mutations in EGR2 Correlate With the Severity of Demyelinating Peripheral Neuropathies Warner, LE et al. (1999): Functional consequences of mutation in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Human Molecular Genetics, 8: 1245-1251. (MDA funded) [PubMed abstract] [MDA Technical Summary] |
| Sept. 99 |
Intermediate HMSN Not Always X-Linked Mastaglia, FL et al. (1999): Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. Journal of Neurosurgery and Psychiatry, 67(2): 174-179. [PubMed abstract] |
| Aug. 99 |
Dejerine-Sottas Can be Triggered by Defects in Early Growth Response 2 Gene Timmerman, V et al. (1999): Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology, 52(9):1827-1832. [PubMed abstract] |
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