Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect

Annals of Neurology

Volumn 59, Issue 2, 2006, Pages 398-403

  Lee, Jennifer A ^a   Madrid, Ricardo E ^b   Sperle, Karen ^c   Ritterson, Carolyn M ^d   Hobson, Grace M ^c,e   Garbern, James ^f   Lupski, James R ^a,g   Inoue, Ken ^a,h,i  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^d Boston University   (United States)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

^f WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g TEXAS CHILDREN S HOSPITAL   (United States)

^h NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

ⁱ NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN; MYELIN; PROTEOLIPID PROTEIN;

ADULT; ARTICLE; CASE REPORT; CODON; COMPARATIVE GENOMIC HYBRIDIZATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DUPLICATION; GENE MUTATION; GENE SILENCING; GENETIC HETEROGENEITY; HUMAN; MALE; MOTOR NERVE CONDUCTION; MULTIPLEX POLYMERASE CHAIN REACTION; MYELIN DEFICIENCY; NERVE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PELIZAEUS MERZBACHER DISEASE; PERIPHERAL NEUROPATHY; PLP1 GENE; POSITION EFFECT; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; REMYELINIZATION; SENSORY NERVE CONDUCTION; SPASTIC PARAPLEGIA; SURAL NERVE; X CHROMOSOME INACTIVATION;

DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION; NEURAL CONDUCTION; NUCLEIC ACID HYBRIDIZATION; PELIZAEUS-MERZBACHER DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SURAL NERVE;

EID: 32044441668     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20732     Document Type: Article

References (21)

1. Garbern J, Cambi F, Shy M, Kamholz J. The molecular pathogenesis of Pelizaeus-Merzbacher disease. Arch Neurol 1999;56:1210-1214.
2. Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 2005;6:1-16.
3. Inoue K, Osaka H, Imaizumi K, et al. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenorypic manifestations. Ann Neurol 1999;45:624-632.
4. Cailloux F, Gauthier-Barichard F, Mimault C, et al. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Eur J Hum Genet 2000;8:837-845.
5. Garbern JY, Cambi F, Tang X-M, et al. Proteolipid protein is necessary in peripheral as well as central myelin. Neuron 1997;19:205-218.
6. Inoue K, Osaka H, Thurston VC, et al. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet 2002;71:838-853.
7. Osaka H, Kawanishi C, Inoue K, et al. Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. Ann Neurol 1999;45:59-64.
8. Lazzarini A, Schwarz KO, Jiang S, et al. Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq. Neurology 1997;49:824-832.
9. Uhlenberg B, Schuelke M, Rüschendorf F, et al. Mutations in the gene encoding gap junction protein α 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet 2004;75:251-260.
10. Krabbe K, Nielsen JE, Fallentin E, et al. MRI of autosomal dominant pure spastic paraplegia. Neuroradiology 1997;39:724-727.
11. Dyck PJ, Giannini C, Lais A. Pathologic alterations of nerves. In: Dyck PJ, Thomas PK, Griffin JW, et al., eds. Peripheral neuropathy. 3rd ed. Philadelphia: WB Saunders, 1993:54-595.
12. Shaw CJ, Shaw CA, Yu W, et al. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet 2004;41:113-119.
13. Griffiths I, Klugmann M, Anderson T, et al. Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 1998;280:1610-1613.
14. Anderson TJ, Schneider A, Barrie JA, et al. Late-onset neuro-degeneration in mice with increased dosage of the proteolipid protein gene. J Comp Neurol 1998;394:506-519.
15. Garbern JY, Yool DA, Moore GJ, et al. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain 2002;125:551-561.
16. Kleinjan DA, van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 2005;76:8-32.
17. Muncke N, Wogatzky BS, Breuning M, et al. Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms. J Med Genet 2004;41:e121.
18. Churikov D, Siino J, Svetlova M, et al. Novel human testis-specific histone H2B encoded by the interrupted gene on the X chromosome. Genomics 2004;84:745-756.
19. Boespflug-Tanguy O, Giraud G, Mimault C, et al. Heterogeneous rearrangements of the PLP genomic region in Pelizaeus-Merzbacher Disease: genorype-phenorype correlation in 41 patients. Am J Hum Genet 1999;65(suppl):A285.
20. Velagaleti GVN, Bien-Willner GA, Northup JK, et al. Position effects due to chromosome breakpoints that map ∼900 kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet 2005;76:652-662.
21. Woodward KJ, Cundall M, Sperle K, et al. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am J Hum Genet 2005;77:966-987.