FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands

E.J. Groen; M.A. van Es; P.W. van Vught; W.G.M. Spliet; J. van Engelen-Lee; M. de Visser; J.H. Wokke; H.J. Schelhaas; R.A. Ophoff; K. Fumoto; R.J. Pasterkamp; D. Dooijes; E. Cuppen; J.H. Veldink; L. van den Berg

doi:10.1001/archneurol.2009.329

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands

E.J. Groen, M.A. van Es, P.W. van Vught, W.G.M. Spliet, J. van Engelen-Lee, M. de Visser, J.H. Wokke, H.J. Schelhaas, R.A. Ophoff, K. Fumoto, R.J. Pasterkamp, D. Dooijes, E. Cuppen, J.H. Veldink, L. van den Berg

Hubrecht Institute

Onderzoeksoutput: Bijdrage aan wetenschappelijk tijdschrift/periodieke uitgave › Artikel › Wetenschappelijk › peer review

68 Citaten (Scopus)

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OBJECTIVES: To assess the frequency of FUS mutations in 52 probands with familial amyotrophic lateral sclerosis (FALS) and to provide careful documentation of clinical characteristics. DESIGN: FUS mutation analysis was performed using capillary sequencing on all coding regions of the gene in a cohort of patients with FALS. The clinical characteristics of patients carrying FUS mutations were described in detail. SETTING: Three university hospitals in the Netherlands (referral centers for neuromuscular diseases). PATIENTS: Fifty-two probands from unrelated pedigrees with FALS. MAIN OUTCOME MEASURE: FUS mutations. RESULTS: We identified 3 mutations in 4 of 52 probands. We observed 2 previously identified mutations (p.Arg521Cys and p.Arg521His) and 1 novel mutation (p.Ser462Phe). In addition, a p.Gln210His polymorphism was identified in 1 proband and 3 healthy control subjects. Phenotypic analysis demonstrated that patients may lack upper motor neuron signs, which was confirmed at autopsy, and disease survival was short (

Originele taal-2	Engels
Pagina's (van-tot)	224-230
Tijdschrift	Archives of Neurology
Volume	67
Nummer van het tijdschrift	2
DOI's	https://doi.org/10.1001/archneurol.2009.329
Status	Gepubliceerd - 2010

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10.1001/archneurol.2009.329

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Groen, E. J., van Es, M. A., van Vught, P. W., Spliet, W. G. M., van Engelen-Lee, J., de Visser, M., Wokke, J. H., Schelhaas, H. J., Ophoff, R. A., Fumoto, K., Pasterkamp, R. J., Dooijes, D., Cuppen, E., Veldink, J. H., & van den Berg, L. (2010). FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands. Archives of Neurology, 67(2), 224-230. https://doi.org/10.1001/archneurol.2009.329

@article{3121684e577a4a2bbd81dca3ab5fd521,

title = "FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands",

abstract = "OBJECTIVES: To assess the frequency of FUS mutations in 52 probands with familial amyotrophic lateral sclerosis (FALS) and to provide careful documentation of clinical characteristics. DESIGN: FUS mutation analysis was performed using capillary sequencing on all coding regions of the gene in a cohort of patients with FALS. The clinical characteristics of patients carrying FUS mutations were described in detail. SETTING: Three university hospitals in the Netherlands (referral centers for neuromuscular diseases). PATIENTS: Fifty-two probands from unrelated pedigrees with FALS. MAIN OUTCOME MEASURE: FUS mutations. RESULTS: We identified 3 mutations in 4 of 52 probands. We observed 2 previously identified mutations (p.Arg521Cys and p.Arg521His) and 1 novel mutation (p.Ser462Phe). In addition, a p.Gln210His polymorphism was identified in 1 proband and 3 healthy control subjects. Phenotypic analysis demonstrated that patients may lack upper motor neuron signs, which was confirmed at autopsy, and disease survival was short (",

author = "E.J. Groen and {van Es}, M.A. and {van Vught}, P.W. and W.G.M. Spliet and {van Engelen-Lee}, J. and {de Visser}, M. and J.H. Wokke and H.J. Schelhaas and R.A. Ophoff and K. Fumoto and R.J. Pasterkamp and D. Dooijes and E. Cuppen and J.H. Veldink and {van den Berg}, L.",

note = "Reporting year: 2010",

year = "2010",

doi = "10.1001/archneurol.2009.329",

language = "English",

volume = "67",

pages = "224--230",

journal = "Archives of Neurology",

issn = "0003-9942",

publisher = "American Medical Association",

number = "2",

}

Groen, EJ, van Es, MA, van Vught, PW, Spliet, WGM, van Engelen-Lee, J, de Visser, M, Wokke, JH, Schelhaas, HJ, Ophoff, RA, Fumoto, K, Pasterkamp, RJ, Dooijes, D, Cuppen, E, Veldink, JH & van den Berg, L 2010, 'FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands', Archives of Neurology, vol. 67, nr. 2, blz. 224-230. https://doi.org/10.1001/archneurol.2009.329

TY - JOUR

T1 - FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands

AU - Groen, E.J.

AU - van Es, M.A.

AU - van Vught, P.W.

AU - Spliet, W.G.M.

AU - van Engelen-Lee, J.

AU - de Visser, M.

AU - Wokke, J.H.

AU - Schelhaas, H.J.

AU - Ophoff, R.A.

AU - Fumoto, K.

AU - Pasterkamp, R.J.

AU - Dooijes, D.

AU - Cuppen, E.

AU - Veldink, J.H.

AU - van den Berg, L.

N1 - Reporting year: 2010

PY - 2010

Y1 - 2010

N2 - OBJECTIVES: To assess the frequency of FUS mutations in 52 probands with familial amyotrophic lateral sclerosis (FALS) and to provide careful documentation of clinical characteristics. DESIGN: FUS mutation analysis was performed using capillary sequencing on all coding regions of the gene in a cohort of patients with FALS. The clinical characteristics of patients carrying FUS mutations were described in detail. SETTING: Three university hospitals in the Netherlands (referral centers for neuromuscular diseases). PATIENTS: Fifty-two probands from unrelated pedigrees with FALS. MAIN OUTCOME MEASURE: FUS mutations. RESULTS: We identified 3 mutations in 4 of 52 probands. We observed 2 previously identified mutations (p.Arg521Cys and p.Arg521His) and 1 novel mutation (p.Ser462Phe). In addition, a p.Gln210His polymorphism was identified in 1 proband and 3 healthy control subjects. Phenotypic analysis demonstrated that patients may lack upper motor neuron signs, which was confirmed at autopsy, and disease survival was short (

AB - OBJECTIVES: To assess the frequency of FUS mutations in 52 probands with familial amyotrophic lateral sclerosis (FALS) and to provide careful documentation of clinical characteristics. DESIGN: FUS mutation analysis was performed using capillary sequencing on all coding regions of the gene in a cohort of patients with FALS. The clinical characteristics of patients carrying FUS mutations were described in detail. SETTING: Three university hospitals in the Netherlands (referral centers for neuromuscular diseases). PATIENTS: Fifty-two probands from unrelated pedigrees with FALS. MAIN OUTCOME MEASURE: FUS mutations. RESULTS: We identified 3 mutations in 4 of 52 probands. We observed 2 previously identified mutations (p.Arg521Cys and p.Arg521His) and 1 novel mutation (p.Ser462Phe). In addition, a p.Gln210His polymorphism was identified in 1 proband and 3 healthy control subjects. Phenotypic analysis demonstrated that patients may lack upper motor neuron signs, which was confirmed at autopsy, and disease survival was short (

U2 - 10.1001/archneurol.2009.329

DO - 10.1001/archneurol.2009.329

M3 - Article

SN - 0003-9942

VL - 67

SP - 224

EP - 230

JO - Archives of Neurology

JF - Archives of Neurology

IS - 2

ER -

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands

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