An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene-Reference-Cited by-同舟云学术

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An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene

Published:2011-11-20 Issue:6 Volume:122 Page:775-781
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Suzuki Satoshi O.,Iwaki Toru,Arakawa Kenji,Furuya Hirokazu,Fujii Naoki,Iwaki Akiko

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00401-011-0916-x.pdf

Reference25 articles.

1. Cailloux F, Gauthier-Barichard F, Mimault C et al (2000) Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European network on brain dysmyelinating disease. Eur J Hum Genet 8:837–845

2. Fink JK, Heiman-Patterson T, Bird T et al (1996) Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology 46:1507–1514

3. Garbern JY (2007) Pelizaeus-Merzbacher disease: genetic and cellular pathogenesis. Cell Mol Life Sci 64:50–65

4. Garbern JY, Yool DA, Moore GJ et al (2002) Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain 125:551–561

5. Gow A, Friedrich VL Jr, Lazzarini RA (1994) Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport. J Neurosci Res 37:574–583

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