TY - JOUR
T1 - Regional brain atrophy in mouse models of neuronal ceroid lipofuscinosis
T2 - A new rostrocaudal perspective
AU - Kühl, Thomas G.
AU - Dihanich, Sybille
AU - Wong, Andrew M.S.
AU - Cooper, Jonathan D.
N1 - Funding Information:
The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Supported by grants from the NCL Stiftung, Batten Disease Support and Research Association, Batten Disease Family Association, The Natalie Fund.
PY - 2013/9
Y1 - 2013/9
N2 - The neuronal ceroid lipofuscinoses (Batten disease) are collectively the most common inherited neurodegenerative disorder of childhood. Mouse models of neuronal ceroid lipofuscinosis represent a powerful resource for investigating the underlying disease mechanisms, which remain poorly understood. Here we present a new rostrocaudal analysis of regional brain volume rather than focusing on central nervous system structures that can be affected. This has revealed an earlier onset of regional atrophy than was suspected in infantile neuronal ceroid lipofuscinosis (or CLN1 disease, infantile), with a greater involvement of rostral structures. We have also provided the first description of regional atrophy in severely affected mice with the juvenile variant (CLN3 disease, juvenile). These data reveal new perspectives on how the central nervous system is affected in these disorders, which have implications for judging the efficacy of therapeutic strategies in preclinical studies.
AB - The neuronal ceroid lipofuscinoses (Batten disease) are collectively the most common inherited neurodegenerative disorder of childhood. Mouse models of neuronal ceroid lipofuscinosis represent a powerful resource for investigating the underlying disease mechanisms, which remain poorly understood. Here we present a new rostrocaudal analysis of regional brain volume rather than focusing on central nervous system structures that can be affected. This has revealed an earlier onset of regional atrophy than was suspected in infantile neuronal ceroid lipofuscinosis (or CLN1 disease, infantile), with a greater involvement of rostral structures. We have also provided the first description of regional atrophy in severely affected mice with the juvenile variant (CLN3 disease, juvenile). These data reveal new perspectives on how the central nervous system is affected in these disorders, which have implications for judging the efficacy of therapeutic strategies in preclinical studies.
KW - neuronal ceroid lipofuscinosis
KW - regional neurodegeneration
KW - stereological measurement of brain volume
UR - http://www.scopus.com/inward/record.url?scp=84883714904&partnerID=8YFLogxK
U2 - 10.1177/0883073813494479
DO - 10.1177/0883073813494479
M3 - Article
C2 - 24014506
AN - SCOPUS:84883714904
SN - 0883-0738
VL - 28
SP - 1117
EP - 1122
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 9
ER -