PMID- 23747979
OWN - NLM
STAT- MEDLINE
DCOM- 20131126
LR  - 20211021
IS  - 0006-3002 (Print)
IS  - 0006-3002 (Linking)
VI  - 1832
IP  - 11
DP  - 2013 Nov
TI  - Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis 
      (infantile CLN1 disease).
PG  - 1906-9
LID - S0925-4439(13)00188-9 [pii]
LID - 10.1016/j.bbadis.2013.05.026 [doi]
AB  - The neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited 
      neurodegenerative diseases. Infantile neuronal ceroid lipofuscinosis (INCL, 
      infantile Batten disease, or infantile CLN1 disease) is caused by a deficiency in 
      the soluble lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1) and has the 
      earliest onset and fastest progression of all the NCLs. Several therapeutic 
      strategies including enzyme replacement, gene therapy, stem cell-mediated 
      therapy, and small molecule drugs have resulted in minimal to modest improvements 
      in the murine model of PPT1-deficiency. However, more recent studies using 
      various combinations of these approaches have shown more promising results; in 
      some instances more than doubling the lifespan of PPT1-deficient mice. These 
      combination therapies that target different pathogenic mechanisms may offer the 
      hope of treating this profoundly neurodegenerative disorder. Similar approaches 
      may be useful when treating other forms of NCL caused by deficiencies in soluble 
      lysosomal proteins. Different therapeutic targets will need to be identified and 
      novel strategies developed in order to effectively treat forms of NCL caused by 
      deficiencies in integral membrane proteins such as juvenile neuronal ceroid 
      lipofuscinosis. Finally, the challenge with all of the NCLs will lie in early 
      diagnosis, improving the efficacy of the treatments, and effectively translating 
      them into the clinic. This article is part of a Special Issue entitled: The 
      Neuronal Ceroid Lipofuscinoses or Batten Disease.
CI  - Copyright (c) 2013 Elsevier B.V. All rights reserved.
FAU - Hawkins-Salsbury, Jacqueline A
AU  - Hawkins-Salsbury JA
AD  - Washington University School of Medicine, Department of Internal Medicine, Box 
      8007, 660 South Euclid Avenue, St. Louis, MO 63110, USA.
FAU - Cooper, Jonathan D
AU  - Cooper JD
FAU - Sands, Mark S
AU  - Sands MS
LA  - eng
GR  - R01 NS043205/NS/NINDS NIH HHS/United States
GR  - R21 NS041930/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Review
DEP - 20130606
PL  - Netherlands
TA  - Biochim Biophys Acta
JT  - Biochimica et biophysica acta
JID - 0217513
RN  - 0 (Membrane Proteins)
SB  - IM
MH  - Animals
MH  - Disease Models, Animal
MH  - Humans
MH  - Membrane Proteins/*genetics
MH  - Mice
MH  - Mutation/*genetics
MH  - Neuronal Ceroid-Lipofuscinoses/genetics/*pathology/*therapy
MH  - Phenotype
PMC - PMC4573397
MID - NIHMS500477
OTO - NOTNLM
OT  - Batten disease
OT  - Gene therapy
OT  - Lysosomal storage disease
OT  - Neurodegeneration
OT  - Neuroinflammation
OT  - Neuronal ceroid lipofuscinosis
EDAT- 2013/06/12 06:00
MHDA- 2013/12/16 06:00
PMCR- 2015/09/17
CRDT- 2013/06/11 06:00
PHST- 2013/04/16 00:00 [received]
PHST- 2013/05/08 00:00 [revised]
PHST- 2013/05/09 00:00 [accepted]
PHST- 2013/06/11 06:00 [entrez]
PHST- 2013/06/12 06:00 [pubmed]
PHST- 2013/12/16 06:00 [medline]
PHST- 2015/09/17 00:00 [pmc-release]
AID - S0925-4439(13)00188-9 [pii]
AID - 10.1016/j.bbadis.2013.05.026 [doi]
PST - ppublish
SO  - Biochim Biophys Acta. 2013 Nov;1832(11):1906-9. doi: 
      10.1016/j.bbadis.2013.05.026. Epub 2013 Jun 6.