TY - JOUR
T1 - Experimental therapies in the neuronal ceroid lipofuscinoses
AU - Neverman, Nicole J.
AU - Best, Hannah L.
AU - Hofmann, Sandra L.
AU - Hughes, Stephanie M.
N1 - Publisher Copyright:
© 2015 Elsevier B.V.
PY - 2015/10/1
Y1 - 2015/10/1
N2 - The neuronal ceroid lipofuscinoses represent a group of severe childhood lysosomal storage diseases. With at least 13 identified variants they are the most common cause of inherited neurodegeneration in children. These diseases share common pathological characteristics including motor problems, vision loss, seizures, and cognitive decline, culminating in premature death. Currently, no form of the disease can be treated or cured, with only palliative care to minimise discomfort. This review focuses on current and potentially ground-breaking clinical trials, including small molecule, enzyme replacement, stem cell, and gene therapies, in the development of effective treatments for the various disease subtypes. This article is part of a Special Issue entitled: "Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)".
AB - The neuronal ceroid lipofuscinoses represent a group of severe childhood lysosomal storage diseases. With at least 13 identified variants they are the most common cause of inherited neurodegeneration in children. These diseases share common pathological characteristics including motor problems, vision loss, seizures, and cognitive decline, culminating in premature death. Currently, no form of the disease can be treated or cured, with only palliative care to minimise discomfort. This review focuses on current and potentially ground-breaking clinical trials, including small molecule, enzyme replacement, stem cell, and gene therapies, in the development of effective treatments for the various disease subtypes. This article is part of a Special Issue entitled: "Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)".
KW - Batten disease
KW - Cell therapy
KW - Enzyme replacement therapy
KW - Gene therapy
KW - Neuronal ceroid lipofuscinosis
KW - Small molecule therapy
UR - http://www.scopus.com/inward/record.url?scp=84940795360&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84940795360&partnerID=8YFLogxK
U2 - 10.1016/j.bbadis.2015.04.026
DO - 10.1016/j.bbadis.2015.04.026
M3 - Review article
C2 - 25957554
AN - SCOPUS:84940795360
SN - 0925-4439
VL - 1852
SP - 2292
EP - 2300
JO - Biochimica et Biophysica Acta - Molecular Basis of Disease
JF - Biochimica et Biophysica Acta - Molecular Basis of Disease
IS - 10
ER -