PMID- 11673581
OWN - NLM
STAT- MEDLINE
DCOM- 20011204
LR  - 20190514
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 57
IP  - 8
DP  - 2001 Oct 23
TI  - Hematopoietic stem cell transplantation in infantile neuronal ceroid 
      lipofuscinosis.
PG  - 1411-6
AB  - OBJECTIVE: To study the effect of allogeneic hematopoietic stem cell 
      transplantation (SCT) on the clinical course of infantile neuronal ceroid 
      lipofuscinosis (INCL), a lysosomal storage disease. BACKGROUND: INCL is a 
      progressive encephalopathy with severe neuronal loss, especially in the cerebral 
      and cerebellar cortex and retina. Autofluorescent lipopigments constitute the 
      typical storage material in INCL. The disease is caused by recessive mutations in 
      the palmitoyl protein thioesterase 1 (PPT1) gene. PPT1 is a depalmitoylating 
      enzyme, which is transported to lysosomes through the mannose-6-phosphate 
      receptor-mediated pathway, and participates in the lysosomal degradation of fatty 
      acylated proteins. METHODS: Three patients with INCL received transplants and 
      were followed up after SCT at the Hospital for Children and Adolescents at the 
      University of Helsinki. The first patient rejected the first graft at the age of 
      7 months and had mild symptoms of INCL at the second transplantation at 11 
      months. The two other patients were asymptomatic when they received their 
      transplants at the age of 4 months. RESULTS: PPT1 enzyme activity was normalized 
      in peripheral leukocytes, but remained low in the CSF and resulted only in a mild 
      and transient amelioration of the classic INCL. All patients who received 
      transplants developed INCL by the age of 2 or 3 years. CONCLUSIONS: More 
      experimental animal and cell culture studies are needed to determine the in vivo 
      function of PPT1. SCT currently cannot be recommended as therapy for INCL.
FAU - Lonnqvist, T
AU  - Lonnqvist T
AD  - Hospital for Children and Adolescents, Department of Child Neurology, University 
      of Helsinki, Finland. tuula.longqvist@hus.fi
FAU - Vanhanen, S L
AU  - Vanhanen SL
FAU - Vettenranta, K
AU  - Vettenranta K
FAU - Autti, T
AU  - Autti T
FAU - Rapola, J
AU  - Rapola J
FAU - Santavuori, P
AU  - Santavuori P
FAU - Saarinen-Pihkala, U M
AU  - Saarinen-Pihkala UM
LA  - eng
PT  - Clinical Trial
PT  - Journal Article
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - EC 3.1.2.2 (Palmitoyl-CoA Hydrolase)
SB  - IM
MH  - Child, Preschool
MH  - Female
MH  - Fetal Blood
MH  - Finland
MH  - Follow-Up Studies
MH  - *Hematopoietic Stem Cell Transplantation
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Neuronal Ceroid-Lipofuscinoses/genetics/*therapy
MH  - Palmitoyl-CoA Hydrolase/genetics
EDAT- 2001/10/24 10:00
MHDA- 2002/01/05 10:01
CRDT- 2001/10/24 10:00
PHST- 2001/10/24 10:00 [pubmed]
PHST- 2002/01/05 10:01 [medline]
PHST- 2001/10/24 10:00 [entrez]
AID - 10.1212/wnl.57.8.1411 [doi]
PST - ppublish
SO  - Neurology. 2001 Oct 23;57(8):1411-6. doi: 10.1212/wnl.57.8.1411.