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

T T Nielsen; K Svenstrup; M Duno; J E Nielsen

doi:10.1038/sc.2013.116

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

T T Nielsen, K Svenstrup, M Duno, J E Nielsen

Medical Genetics Program

4 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Spinal Cord
Vol/bind	52
Udgave nummer	1
Sider (fra-til)	77-79
Antal sider	3
ISSN	1362-4393
DOI	https://doi.org/10.1038/sc.2013.116
Status	Udgivet - jan. 2014

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10.1038/sc.2013.116

Citationsformater

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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",

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journal = "Spinal Cord",

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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

SN - 1362-4393

VL - 52

SP - 77

EP - 79

JO - Spinal Cord

JF - Spinal Cord

IS - 1

ER -

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

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