Abstract
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | Journal of Neurology, Neurosurgery and Psychiatry |
| Vol/bind | 81 |
| Udgave nummer | 6 |
| Sider (fra-til) | 666-72 |
| Antal sider | 13 |
| ISSN | 0022-3050 |
| DOI | |
| Status | Udgivet - 1 jun. 2010 |
Bibliografisk note
Keywords: 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, HereditaryAdgang til dokumentet
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Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'. / Svenstrup, Kirsten; Giraud, Geneviève; Boespflug-Tanguy, Odile; Danielsen, Else R; Thomsen, Carsten; Rasmussen, Kirsten; Law, Ian; Vogel, Asmus; Stokholm, Jette; Crone, Clarissa; Hjermind, Lena E; Nielsen, Jørgen E; Svenstrup, Kirsten; Giraud, Geneviève; Boespflug-Tanguy, Odile; Danielsen, Else R; Thomsen, Carsten; Rasmussen, Kirsten; Law, Ian; Vogel, Asmus; Stokholm, Jette; Crone, Clarissa; Hjermind, Lena E; Nielsen, Jørgen E.
I: Journal of Neurology, Neurosurgery and Psychiatry, Bind 81, Nr. 6, 01.06.2010, s. 666-72.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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TY - JOUR
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
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
N1 - Keywords: 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
PY - 2010/6/1
Y1 - 2010/6/1
N2 - BACKGROUND: 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. OBJECTIVE: To characterise the phenotype of patients with the 'rumpshaker mutation.' PATIENTS: A family with HSP caused by the 'rumpshaker mutation.' RESULTS: The patients showed nystagmus during infancy and had early onset of HSP. They had normal cognition, and cerebral MRI showed relatively unspecific white matter abnormalities on T2 sequences without clear progression. Urinary urgency was reported among the female carriers. MRS of both patients showed increased myo-inositol in the white matter, while decreased N-acetylaspartate was found exclusively in the oldest patient. All evoked potential examinations were compatible with severe central demyelination, while no signs of peripheral demyelination or axonal degeneration were found. (18)F-FDG-PET scans were normal. CONCLUSION: The phenotypes of the patients reported here are the mildest described to be caused by the rumpshaker mutation and represent the mildest form among the spectrum of PLP1 related disorders. No definite symptoms in the female carriers could be ascribed to the mutation. These data suggest the pathology to be an underlying dysmyelinating disorder in combination with a central axonal degeneration.
AB - BACKGROUND: 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. OBJECTIVE: To characterise the phenotype of patients with the 'rumpshaker mutation.' PATIENTS: A family with HSP caused by the 'rumpshaker mutation.' RESULTS: The patients showed nystagmus during infancy and had early onset of HSP. They had normal cognition, and cerebral MRI showed relatively unspecific white matter abnormalities on T2 sequences without clear progression. Urinary urgency was reported among the female carriers. MRS of both patients showed increased myo-inositol in the white matter, while decreased N-acetylaspartate was found exclusively in the oldest patient. All evoked potential examinations were compatible with severe central demyelination, while no signs of peripheral demyelination or axonal degeneration were found. (18)F-FDG-PET scans were normal. CONCLUSION: The phenotypes of the patients reported here are the mildest described to be caused by the rumpshaker mutation and represent the mildest form among the spectrum of PLP1 related disorders. No definite symptoms in the female carriers could be ascribed to the mutation. These data suggest the pathology to be an underlying dysmyelinating disorder in combination with a central axonal degeneration.
U2 - 10.1136/jnnp.2009.180315
DO - 10.1136/jnnp.2009.180315
M3 - Journal article
C2 - 19955111
VL - 81
SP - 666
EP - 672
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 6
ER -