Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Standard

Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort. / Nielsen, T T; Svenstrup, K; Duno, M; Nielsen, J E.

I: Spinal Cord, Bind 52, Nr. 1, 01.2014, s. 77-79.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Nielsen, TT, Svenstrup, K, Duno, M & Nielsen, JE 2014, 'Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort', Spinal Cord, bind 52, nr. 1, s. 77-79. https://doi.org/10.1038/sc.2013.116

APA

Nielsen, T. T., Svenstrup, K., Duno, M., & Nielsen, J. E. (2014). Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort. Spinal Cord, 52(1), 77-79. https://doi.org/10.1038/sc.2013.116

Vancouver

Nielsen TT, Svenstrup K, Duno M, Nielsen JE. Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort. Spinal Cord. 2014 jan.;52(1):77-79. https://doi.org/10.1038/sc.2013.116

Author

Nielsen, T T ; Svenstrup, K ; Duno, M ; Nielsen, J E. / Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort. I: Spinal Cord. 2014 ; Bind 52, Nr. 1. s. 77-79.

Bibtex

@article{4ce4409492054a9ebdcec741141e25a7,
title = "Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort",
abstract = "OBJECTIVES: Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders characterized by a progressive gait disorder, lower limb spasticity, hyper-reflexia, weakness and extensor plantar responses. Recently, large intronic hexanucleotide repeat expansions (GGGGCC) in C9ORF72 have been found to cause frontotemporal dementia (FTD), amyotrophic lateral sclerosis and FTD with motor neuron disease. Owing to the overlapping phenotypes among HSP, amyotrophic lateral sclerosis and FTD with motor neuron disease along with shared pathological findings, we hypothesized that C9ORF72 expansions might be a genetic risk factor or modifier of HSP.METHODS: Clinically characterized HSP patients were investigated for elongations in the hexanucleotide repeat of C9ORF72.RESULTS: Upon analyses of the repeat lengths in the C9ORF72 gene in a Danish cohort of HSP patients, we found no expansions.CONCLUSION: We conclude that HSP is most likely not associated with repeat expansions in C9ORF72.",
author = "Nielsen, {T T} and K Svenstrup and M Duno and Nielsen, {J E}",
year = "2014",
month = jan,
doi = "10.1038/sc.2013.116",
language = "English",
volume = "52",
pages = "77--79",
journal = "Spinal Cord",
issn = "1362-4393",
publisher = "nature publishing group",
number = "1",

}

RIS

TY - JOUR

T1 - Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort

AU - Nielsen, T T

AU - Svenstrup, K

AU - Duno, M

AU - Nielsen, J E

PY - 2014/1

Y1 - 2014/1

N2 - OBJECTIVES: Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders characterized by a progressive gait disorder, lower limb spasticity, hyper-reflexia, weakness and extensor plantar responses. Recently, large intronic hexanucleotide repeat expansions (GGGGCC) in C9ORF72 have been found to cause frontotemporal dementia (FTD), amyotrophic lateral sclerosis and FTD with motor neuron disease. Owing to the overlapping phenotypes among HSP, amyotrophic lateral sclerosis and FTD with motor neuron disease along with shared pathological findings, we hypothesized that C9ORF72 expansions might be a genetic risk factor or modifier of HSP.METHODS: Clinically characterized HSP patients were investigated for elongations in the hexanucleotide repeat of C9ORF72.RESULTS: Upon analyses of the repeat lengths in the C9ORF72 gene in a Danish cohort of HSP patients, we found no expansions.CONCLUSION: We conclude that HSP is most likely not associated with repeat expansions in C9ORF72.

AB - OBJECTIVES: Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders characterized by a progressive gait disorder, lower limb spasticity, hyper-reflexia, weakness and extensor plantar responses. Recently, large intronic hexanucleotide repeat expansions (GGGGCC) in C9ORF72 have been found to cause frontotemporal dementia (FTD), amyotrophic lateral sclerosis and FTD with motor neuron disease. Owing to the overlapping phenotypes among HSP, amyotrophic lateral sclerosis and FTD with motor neuron disease along with shared pathological findings, we hypothesized that C9ORF72 expansions might be a genetic risk factor or modifier of HSP.METHODS: Clinically characterized HSP patients were investigated for elongations in the hexanucleotide repeat of C9ORF72.RESULTS: Upon analyses of the repeat lengths in the C9ORF72 gene in a Danish cohort of HSP patients, we found no expansions.CONCLUSION: We conclude that HSP is most likely not associated with repeat expansions in C9ORF72.

U2 - 10.1038/sc.2013.116

DO - 10.1038/sc.2013.116

M3 - Journal article

C2 - 24126854

VL - 52

SP - 77

EP - 79

JO - Spinal Cord

JF - Spinal Cord

SN - 1362-4393

IS - 1

ER -

ID: 119642101