Amyotrofische laterale sclerose, een heterogene ziekte

Michael A van Es; Esther T. Kruitwagen-van Reenen; Carin D. Schröder; R. J Jeroen Pasterkamp; Jan H. Veldink; Leonard H. Van Den Berg

Amyotrofische laterale sclerose, een heterogene ziekte

Translated title of the contribution: Amyotrophic lateral sclerosis, a heterogeneous disorder

Michael A van Es^*, Esther T. Kruitwagen-van Reenen, Carin D. Schröder, R. J Jeroen Pasterkamp, Jan H. Veldink, Leonard H. Van Den Berg

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

ALS is a disease characterized by the progressive loss of upper and lower motor neurons leading to weakness and spasticity. Diagnosis of ALS is based on exclusion. ALS and frontotemporal dementia (FTD) constitute the extremes of the spectrum of one disease. Many patients show signs of both ALS and FTD. ALS is a heterogeneous disease in which multiple genetic factors contribute. More than 20 genes are known to play a role in ALS pathogenesis. In approximately 510% of cases the disease is familial with autosomal dominant inheritance. There is no curative treatment for ALS. The treatment of ALS patients is symptomatic and is focused on achieving a high level of quality of life. New insights into the genetic fundamentals of ALS offer hope for new therapies. Genetargeted treatment strategies using antisense oligonucleotides are a promising development.

Translated title of the contribution	Amyotrophic lateral sclerosis, a heterogeneous disorder
Original language	Dutch
Article number	A9658
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	160
Issue number	10
Publication status	Published - 2016

Cite this

@article{b1c053873cbd4e1cb4348164fc6249d1,

title = "Amyotrofische laterale sclerose, een heterogene ziekte",

abstract = "ALS is a disease characterized by the progressive loss of upper and lower motor neurons leading to weakness and spasticity. Diagnosis of ALS is based on exclusion. ALS and frontotemporal dementia (FTD) constitute the extremes of the spectrum of one disease. Many patients show signs of both ALS and FTD. ALS is a heterogeneous disease in which multiple genetic factors contribute. More than 20 genes are known to play a role in ALS pathogenesis. In approximately 510% of cases the disease is familial with autosomal dominant inheritance. There is no curative treatment for ALS. The treatment of ALS patients is symptomatic and is focused on achieving a high level of quality of life. New insights into the genetic fundamentals of ALS offer hope for new therapies. Genetargeted treatment strategies using antisense oligonucleotides are a promising development.",

author = "{van Es}, {Michael A} and {Kruitwagen-van Reenen}, {Esther T.} and Schr{\"o}der, {Carin D.} and Pasterkamp, {R. J Jeroen} and Veldink, {Jan H.} and {Van Den Berg}, {Leonard H.}",

year = "2016",

language = "Dutch",

volume = "160",

journal = "Nederlands Tijdschrift voor Geneeskunde",

issn = "0028-2162",

publisher = "Bohn Stafleu van Loghum",

number = "10",

}

TY - JOUR

T1 - Amyotrofische laterale sclerose, een heterogene ziekte

AU - van Es, Michael A

AU - Kruitwagen-van Reenen, Esther T.

AU - Schröder, Carin D.

AU - Pasterkamp, R. J Jeroen

AU - Veldink, Jan H.

AU - Van Den Berg, Leonard H.

PY - 2016

Y1 - 2016

N2 - ALS is a disease characterized by the progressive loss of upper and lower motor neurons leading to weakness and spasticity. Diagnosis of ALS is based on exclusion. ALS and frontotemporal dementia (FTD) constitute the extremes of the spectrum of one disease. Many patients show signs of both ALS and FTD. ALS is a heterogeneous disease in which multiple genetic factors contribute. More than 20 genes are known to play a role in ALS pathogenesis. In approximately 510% of cases the disease is familial with autosomal dominant inheritance. There is no curative treatment for ALS. The treatment of ALS patients is symptomatic and is focused on achieving a high level of quality of life. New insights into the genetic fundamentals of ALS offer hope for new therapies. Genetargeted treatment strategies using antisense oligonucleotides are a promising development.

AB - ALS is a disease characterized by the progressive loss of upper and lower motor neurons leading to weakness and spasticity. Diagnosis of ALS is based on exclusion. ALS and frontotemporal dementia (FTD) constitute the extremes of the spectrum of one disease. Many patients show signs of both ALS and FTD. ALS is a heterogeneous disease in which multiple genetic factors contribute. More than 20 genes are known to play a role in ALS pathogenesis. In approximately 510% of cases the disease is familial with autosomal dominant inheritance. There is no curative treatment for ALS. The treatment of ALS patients is symptomatic and is focused on achieving a high level of quality of life. New insights into the genetic fundamentals of ALS offer hope for new therapies. Genetargeted treatment strategies using antisense oligonucleotides are a promising development.

UR - http://www.scopus.com/inward/record.url?scp=84960857429&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:84960857429

SN - 0028-2162

VL - 160

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

IS - 10

M1 - A9658

ER -

Amyotrofische laterale sclerose, een heterogene ziekte

Abstract

Other files and links

Fingerprint

Cite this