Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 6, 2010, Pages 666-672

  Svenstrup, Kirsten ^a,b   Giraud, Geneviève ^c   Boespflug Tanguy, Odile ^c,d   Danielsen, Else R ^b   Thomsen, Carsten ^b   Rasmussen, Kirsten ^e   Law, Ian ^b   Vogel, Asmus ^b   Stokholm, Jette ^b   Crone, Clarissa ^b   Hjermind, Lena E ^a,b   Nielsen, Jørgen E ^a,b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b University of Copenhagen   (Denmark)

^c UNIVERSITÉ CLERMONT AUVERGNE   (France)

^d UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^e ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

FLUORODEOXYGLUCOSE F 18; INOSITOL; MYELIN PROTEIN; N ACETYLASPARTIC ACID; PROTEIN PLP1; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; DEMYELINATION; EVOKED RESPONSE; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANCY; MALE; NERVE FIBER DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; URINARY URGENCY; WHITE MATTER;

AGED; ALLELES; CHROMOSOMES, HUMAN, X; COGNITION DISORDERS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EVOKED POTENTIALS, VISUAL; FEMALE; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; MYELIN PROTEOLIPID PROTEIN; NEUROPSYCHOLOGICAL TESTS; NYSTAGMUS, CONGENITAL; PEDIGREE; PHENOTYPE; POINT MUTATION; SEVERITY OF ILLNESS INDEX; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 77953691257     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2009.180315     Document Type: Article

References (30)

1. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;321:1151-5.
2. Macedo-Souza LI, Kok F, Santos S, et al. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25. Neurogenetics 2008;9:225-6.
3. Steinmüller R, Lantigua-Cruz A, Garcia-Garcia R, et al. Evidence of a third locus in X-linked recessive spastic paraplegia. Hum Genet 1997;100:287-9.
4. Jouet M, Rosenthal A, Armstrong G, et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 1994;7:402-7.
5. Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 1994;6:257-62.
6. Cailloux F, Gauthier-Barichard F, Mimault C, 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;8:837-45.
7. Hurst S, Garbern J, Trepanier A, et al. Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease. Genet Med 2006;8:371-8. (Pubitemid 44297308)
8. 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;125:551-61.
9. Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 2005;6:1-16.
10. Griffiths IR, Scott I, McCulloch MC, et al. Rumpshaker mouse: a new X-linked mutation affecting myelination: evidence for a defect in PLP expression. J Neurocytol 1990;19:273-83.
11. Schneider A, Montague P, Griffiths I, et al. Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene. Nature 1992;358:758-61.
12. Kobayashi H, Hoffman EP, Marks HG. The rumpshaker mutation in spastic paraplegia. Nat Genet 1994;7:351-2.
13. Johnston AW, McKusick VA. A sex-linked recessive form of spastic paraplegia. Am J Hum Genet 1962;14:83-94.
14. Provencher SW. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 1993;30:672-9.
15. Elberling TV, Danielsen ER, Rasmussen AK, et al. Reduced myo-inositol and total choline measured with cerebral MRS in acute thyrotoxic Graves' disease. Neurology 2003;60:142-5.
16. Minoshima S, Frey KA, Koeppe RA, et al. A diagnostic approach in Alzheimer's disease using three-dimensional stereotactic surface projections of fluorine-18-FDG PET. J Nucl Med 1995;36:1238-48.
17. Ginter DN, Konigsmark BA, Abbott MH. X-linked spinocerebellar degeneration. Birth Defects Orig Artic Ser 1974;X4:334-6.
18. Naidu S, Dlouhy SR, Geraghty MT, et al. A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria. J Inherit Metab Dis 1997;20:811-16.
19. Thurmon TF, Walker BA, Scott CI, et al. Two kindreds with a sex-linked recessive form of spastic paraplegia. Birth Defects Orig Artic Ser 1971;7:219-21.
20. Abel A, Fonknechten N, Hofer A, et al. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics 2004;5:239-43.
21. McDermott CJ, Burness CE, Kirby J, et al. Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology 2006;67:45-51.
22. Pizzini F, Fatemi AS, Barker PB, et al. Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. Am J Neuroradiol 2003;24:1683-9. (Pubitemid 37151741)
23. Edgar JM, McLaughlin M, Barrie JA, et al. Age-related axonal and myelin changes in the rumpshaker mutation of the Plp gene. Acta Neuropathol 2004;107:331-5.
24. Danielsen E, Ross B. Magnetic resonance spectroscopy: diagnosis of neurological diseases. 1st edn. New York: Marcel Dekker, 1999.
25. Oz G, Tkac I, Charnas LR, et al. Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients. Neurology 2005;64:434-41.
26. Hanefeld FA, Brockmann K, Pouwels PJ, et al. Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination. Neurology 2005;65:701-6.
27. Bonavita S, Schiffmann R, Moore DF, et al. Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations. Neurology 2001;56:785-8. (Pubitemid 32240103)
28. Nezu A, Kimura S, Takeshita S, et al. An MRI and MRS study of Pelizaeus-Merzbacher disease. Pediatr Neurol 1998;18:334-7.
29. Plecko B, Stöckler-Ipsiroglu S, Gruber S, et al. Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype. Neuropediatrics 2003;34:127-36.
30. Takanashi J, Inoue K, Tomita M, et al. Brain N-acetylaspartate is elevated in Pelizaeus-Merzbacher disease with PLP1 duplication. Neurology 2002;58:237-41. (Pubitemid 34084213)