PMID- 19302939
OWN - NLM
STAT- MEDLINE
DCOM- 20090522
LR  - 20181201
IS  - 0887-8994 (Print)
IS  - 0887-8994 (Linking)
VI  - 40
IP  - 4
DP  - 2009 Apr
TI  - Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
PG  - 271-6
LID - 10.1016/j.pediatrneurol.2008.10.018 [doi]
AB  - The neuronal ceroid lipofuscinoses are a heterogeneous group of inherited 
      degenerative disorders of the central nervous system. Cases of ceroid 
      lipofuscinosis with cytoplasmic storage of granular osmiophilic deposits are 
      associated with reduced activity of palmitoyl-protein thioesterase-1 (PPT-1) and 
      mutations in CLN1, and occur from infancy to adulthood. We present clinical and 
      diagnostic investigations in six children with variant late infantile neuronal 
      ceroid lipofuscinosis and mutations in CLN1. The main clinical features at onset 
      were behavioral disturbances and cognitive decline. Myoclonic jerks constituted 
      the most prominent paroxysmal phenomenon. An electroencephalogram revealed the 
      "vanishing" pattern described in infantile ceroid lipofuscinosis. Neurologic 
      regression was associated with dramatic shrinkage of cortical structures, evident 
      upon brain magnetic resonance imaging. Three unrelated children harboring the 
      same homozygous mutation in CLN1 and a girl who carried a novel mutation 
      resulting in skipping of multiple exons presented with a similar clinical 
      phenotype. The most severe picture occurred in two siblings who carried a 
      homozygous mutation predicting a prematurely truncated protein. Similar to the 
      infantile form, the clinical evolution in this group of patients was 
      characterized by an onset of severe neurologic impairment, peaking within a 
      relatively short period of time, followed by a slower evolution of the disease.
FAU - Simonati, Alessandro
AU  - Simonati A
AD  - Department of Neurological and Visual Sciences, University of Verona School of 
      Medicine, Verona, Italy. alessandro.simonati@univr.it
FAU - Tessa, Alessandra
AU  - Tessa A
FAU - Bernardina, Bernardo Dalla
AU  - Bernardina BD
FAU - Biancheri, Roberta
AU  - Biancheri R
FAU - Veneselli, Edvige
AU  - Veneselli E
FAU - Tozzi, Giulia
AU  - Tozzi G
FAU - Bonsignore, Maria
AU  - Bonsignore M
FAU - Grosso, Salvatore
AU  - Grosso S
FAU - Piemonte, Fiorella
AU  - Piemonte F
FAU - Santorelli, Filippo M
AU  - Santorelli FM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Pediatr Neurol
JT  - Pediatric neurology
JID - 8508183
RN  - 0 (Membrane Proteins)
RN  - EC 3.1.2.- (Thiolester Hydrolases)
RN  - EC 3.1.2.22 (PPT1 protein, human)
SB  - IM
MH  - Adolescent
MH  - Age of Onset
MH  - Alleles
MH  - Brain/pathology
MH  - Child
MH  - Child Behavior Disorders/etiology
MH  - Child Development
MH  - Child, Preschool
MH  - Disease Progression
MH  - Electrodiagnosis
MH  - Electroencephalography
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - Infant
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Mutation/physiology
MH  - Neuronal Ceroid-Lipofuscinoses/*genetics/pathology/psychology
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Seizures/etiology
MH  - Sleep/physiology
MH  - Speech Disorders/etiology
MH  - Thiolester Hydrolases
EDAT- 2009/03/24 09:00
MHDA- 2009/05/23 09:00
CRDT- 2009/03/24 09:00
PHST- 2008/08/20 00:00 [received]
PHST- 2008/10/20 00:00 [revised]
PHST- 2008/10/27 00:00 [accepted]
PHST- 2009/03/24 09:00 [entrez]
PHST- 2009/03/24 09:00 [pubmed]
PHST- 2009/05/23 09:00 [medline]
AID - S0887-8994(08)00567-5 [pii]
AID - 10.1016/j.pediatrneurol.2008.10.018 [doi]
PST - ppublish
SO  - Pediatr Neurol. 2009 Apr;40(4):271-6. doi: 10.1016/j.pediatrneurol.2008.10.018.