Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

Kirsten Svenstrup; Geneviève Giraud; Odile Boespflug-Tanguy; Else R Danielsen; Carsten Thomsen; Kirsten Rasmussen; Ian Law; Asmus Vogel; Jette Stokholm; Clarissa Crone; Lena E Hjermind; Jørgen E Nielsen

doi:10.1136/jnnp.2009.180315

Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

Kirsten Svenstrup, Geneviève Giraud, Odile Boespflug-Tanguy, Else R Danielsen, Carsten Thomsen, Kirsten Rasmussen, Ian Law, Asmus Vogel, Jette Stokholm, Clarissa Crone, Lena E Hjermind, Jørgen E Nielsen

13 Citations (Scopus)

Abstract

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness in the lower limbs. Mutations in PLP1 on the X chromosome cause spastic paraplegia type 2 (SPG2) or the allelic Pelizaeus-Merzbacher Disease (PMD). The PLP1 protein is a major myelin protein involved in stabilisation and maintenance of the myelin sheath. The function of the protein has been studied in the rumpshaker mouse, which is a model of SPG2/PMD.

Original language	English
Journal	Journal of Neurology, Neurosurgery and Psychiatry
Volume	81
Issue number	6
Pages (from-to)	666-72
Number of pages	13
ISSN	0022-3050
DOIs	https://doi.org/10.1136/jnnp.2009.180315
Publication status	Published - 1 Jun 2010

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title = "Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'",

abstract = "Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness in the lower limbs. Mutations in PLP1 on the X chromosome cause spastic paraplegia type 2 (SPG2) or the allelic Pelizaeus-Merzbacher Disease (PMD). The PLP1 protein is a major myelin protein involved in stabilisation and maintenance of the myelin sheath. The function of the protein has been studied in the rumpshaker mouse, which is a model of SPG2/PMD.",

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T1 - Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

AU - Svenstrup, Kirsten

AU - Giraud, Geneviève

AU - Boespflug-Tanguy, Odile

AU - Danielsen, Else R

AU - Thomsen, Carsten

AU - Rasmussen, Kirsten

AU - Law, Ian

AU - Vogel, Asmus

AU - Stokholm, Jette

AU - Crone, Clarissa

AU - Hjermind, Lena E

AU - Nielsen, Jørgen E

PY - 2010/6/1

Y1 - 2010/6/1

N2 - Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness in the lower limbs. Mutations in PLP1 on the X chromosome cause spastic paraplegia type 2 (SPG2) or the allelic Pelizaeus-Merzbacher Disease (PMD). The PLP1 protein is a major myelin protein involved in stabilisation and maintenance of the myelin sheath. The function of the protein has been studied in the rumpshaker mouse, which is a model of SPG2/PMD.

AB - Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness in the lower limbs. Mutations in PLP1 on the X chromosome cause spastic paraplegia type 2 (SPG2) or the allelic Pelizaeus-Merzbacher Disease (PMD). The PLP1 protein is a major myelin protein involved in stabilisation and maintenance of the myelin sheath. The function of the protein has been studied in the rumpshaker mouse, which is a model of SPG2/PMD.

UR - https://www.scopus.com/pages/publications/77953691257

U2 - 10.1136/jnnp.2009.180315

DO - 10.1136/jnnp.2009.180315

M3 - Journal article

C2 - 19955111

SN - 0022-3050

VL - 81

SP - 666

EP - 672

JO - Journal of Neurology, Neurosurgery and Psychiatry

JF - Journal of Neurology, Neurosurgery and Psychiatry

IS - 6

ER -

Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

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