Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation

Brain and Development

Volumn 32, Issue 9, 2010, Pages 703-707

  Osaka, Hitoshi ^a,c   Koizume, Shiro ^a,c   Aoyama, Haruhiko ^b   Iwamoto, Hiroko ^b   Kimura, Seiji ^b   Nagai, Jun ichi ^a   Kurosawa, Kenji ^a   Yamashita, Sumimasa ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b Yokohama Ryoiku iryo Center   (Japan)

^c KANAGAWA CANCER CENTER   (Japan)

Author keywords

Pelizaeus Merzbacher disease; PLP1; Proteolipid protein 1

Indexed keywords

MESSENGER RNA; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG; VALPROIC ACID;

ADULT; APRAXIA; ARM; ARTICLE; CASE REPORT; CODON; DNA SEQUENCE; EEG ABNORMALITY; ELECTROENCEPHALOGRAM; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MENTAL DETERIORATION; MUSCLE HYPERTONIA; MUSCLE TONE; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; RNA SPLICING; SPEECH DISORDER; TENDON REFLEX; TONIC SEIZURE; WALKING DIFFICULTY; WHITE MATTER;

ADULT; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MODELS, MOLECULAR; MUTATION; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 77956229547     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2009.11.004     Document Type: Article

References (10)

1. Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 2005, 6:1-16.
2. Taylor C.M., Marta C.B., Claycomb R.J., Han D.K., Rasband M.N., Coetzee T., et al. Proteomic mapping provides powerful insights into functional myelin biology. Proc Natl Acad Sci USA 2004, 101:4643-4648. [in English].
3. Southwood C.M., Garbern J., Jiang W., Gow A. The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron 2002, 36:585-596.
4. Hubner C.A., Orth U., Senning A., Steglich C., Kohlschutter A., Korinthenberg R., et al. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. Hum Mutat 2005, 25:321-322.
5. Nance M.A., Boyadjiev S., Pratt V.M., Taylor S., Hodes M.E., Dlouhy S.R. Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease. Neurology 1996, 47:1333-1335.
6. Hobson G.M., Huang Z., Sperle K., Sistermans E., Rogan P.K., Garbern J.Y., et al. Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes. Hum Mutat 2006, 27:69-77.
7. Cailloux F., Gauthier-Barichard F., Mimault C., Isabelle V., Courtois V., Giraud G., et al. 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 2000, 8:837-845.
8. Osaka H., Kawanishi C., Inoue K., Uesugi H., Hiroshi K., Nishiyama K., et al. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. Biochem Biophys Res Commun 1995, 215:835-841.
9. Inoue K., Khajavi M., Ohyama T., Hirabayashi S., Wilson J., Reggin J.D., et al. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 2004, 36:361-369.
10. Osaka H., Kawanishi C., Inoue K., Onishi H., Kobayashi T., Sugiyama N., et al. Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. Ann Neurol 1999, 45:59-64.