PMID- 11332767
OWN - NLM
STAT- MEDLINE
DCOM- 20010816
LR  - 20211203
IS  - 0065-2660 (Print)
IS  - 0065-2660 (Linking)
VI  - 45
DP  - 2001
TI  - Neuronal ceroid lipofuscinoses: classification and diagnosis.
PG  - 1-34
AB  - The neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders 
      characterized by accumulation of ceroid lipopigment in lysosomes in various 
      tissues and organs. The childhood forms of the NCLs represent the most common 
      neurogenetic disorders of childhood and are inherited in an autosomal-recessive 
      mode. The adult form of NCL is rare and shows either an autosomal-recessive or 
      autosomal dominant mode of inheritance. Currently, five genes associated with 
      various childhood forms of NCLs, designated CLN1, CLN2, CLN3, CLN5, and CLN8, 
      have been isolated and characterized. Two of these genes, CLN1 and CLN2, encode 
      lysosomal enzymes: palmitoyl protein thioesterase 1 (PPT1) and tripetidyl 
      peptidase 1 (TPP1), respectively. CLN3, CLN5, and CLN8 encode proteins of 
      predicted transmembrane topology, whose function has not been characterized yet. 
      Two other genes, CLN6 and CLN7, have been assigned recently to small chromosomal 
      regions. Gene(s) associated with the adult form of NCLs (CLN4) are at present 
      unknown. This study summarizes the current classification and new diagnostic 
      criteria of NCLs based on clinicopathological, biochemical, and molecular genetic 
      data. Material includes 159 probands with NCL (37 CLNI, 72 classical CLN2, 10 
      variant LINCL, and 40 CLN3) collected at the New York State Institute for Basic 
      Research in Developmental Disabilities (IBR) as well as a comprehensive review of 
      the literature. The results of our study indicate that although only biochemical 
      and molecular genetic studies allow for definitive diagnosis, ultrastructural 
      studies of the biopsy material are still very useful. Thus, although treatments 
      for NCLs are not available at present, the diagnosis has become better defined.
FAU - Wisniewski, K E
AU  - Wisniewski KE
AD  - Department of Pathological Neurobiology, New York State Institute for Basic 
      Research in Developmental Disabilities, Staten Island 10314, USA. 
      BATTENKW@AOL.COM
FAU - Kida, E
AU  - Kida E
FAU - Golabek, A A
AU  - Golabek AA
FAU - Kaczmarski, W
AU  - Kaczmarski W
FAU - Connell, F
AU  - Connell F
FAU - Zhong, N
AU  - Zhong N
LA  - eng
GR  - NS/HD38988/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - United States
TA  - Adv Genet
JT  - Advances in genetics
JID - 0370421
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Genotype
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Mutation
MH  - Neuronal Ceroid-Lipofuscinoses/*classification/*diagnosis/*genetics
MH  - Phenotype
MH  - Tripeptidyl-Peptidase 1
RF  - 85
EDAT- 2001/05/03 10:00
MHDA- 2001/08/17 10:01
CRDT- 2001/05/03 10:00
PHST- 2001/05/03 10:00 [pubmed]
PHST- 2001/08/17 10:01 [medline]
PHST- 2001/05/03 10:00 [entrez]
AID - 10.1016/s0065-2660(01)45002-4 [doi]
PST - ppublish
SO  - Adv Genet. 2001;45:1-34. doi: 10.1016/s0065-2660(01)45002-4.