Late infantile neuronal ceroid lipofuscinosis

Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.



Input patient's signs and symptoms


Narrow down the case reports



Total: 34 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
3
(4.0%)		 23956585
(3724095)
 Late infantile neuronal ceroid lipofuscinosis: A case report with review of literature.
Verma R, Raut TP, Tiwari N, Malhotra KP, Hussain N, Malhotra HS.
Ann Indian Acad Neurol. 2013;16(2):282-5.
Cerebellar atrophy
3
(4.0%)		 22221116
 Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis.
Fukumura S, Saito Y, Saito T, Komaki H, Nakagawa E, Sugai K, Sasaki M, Oka A, Takamisawa I.
Dev Med Child Neurol. 2012;54(7):663-6.
Bradycardia
rs119455958
Adult Atrial Fibrillation Atrioventricular Block Bradycardia Cardiac Arrhythmia Child Disease Progression Echocardiography Electrocardiography Electroencephalography Enteral Nutrition Fatal Outcome Females Homo sapiens Lipids Male Myocardium Neuronal Ceroid-Lipofuscinoses Ventricular Fibrillation
3
(4.0%)		 21940688
 Late infantile neuronal ceroid lipofuscinosis and dopamine deficiency.
Le NM, Parikh S.
J Child Neurol. 2012;27(2):234-7.
Retinopathy
CLN3 CLN6 PPT1 TPP1
Aminopeptidase Brain Child, Preschool Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Homo sapiens Male Neuronal Ceroid-Lipofuscinoses Serine Proteases Tripeptidyl-Peptidase 1
3
(4.0%)		 19807737
 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
Reinhardt K, Grapp M, Schlachter K, Bruck W, Gartner J, Steinfeld R.
Clin Genet. 2010;77(1):79-85.
Visual loss
CLN3 CLN8 CTSD PPT1
c|DEL|544-2566_590|2613 c|SUB|G|611|T;RS#:386834134 c|SUB|G|709|A;RS#:746645358 rs386834134 rs746645358 rs786204559
Child Females Germany Homo sapiens Male Membrane Proteins Neuronal Ceroid-Lipofuscinoses Pakistan Sequence Deletion
3
(4.0%)		 19748052
 Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.
Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A.
Pediatr Neurol. 2009;41(4):297-300.
Visual loss
PPT1 TPP1
Age of Onset Aminopeptidase Brain Child Child, Preschool Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Electroencephalography Females Homo sapiens Homozygote Magnetic Resonance Imaging Male Neuronal Ceroid-Lipofuscinoses Sequence Deletion Serine Proteases Sibling Tripeptidyl-Peptidase 1
3
(4.0%)		 17129765
 Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.
Striano P, Specchio N, Biancheri R, Cannelli N, Simonati A, Cassandrini D, Rossi A, Bruno C, Fusco L, Gaggero R, Vigevano F, Bertini E, Zara F, Santorelli FM, Striano S.
Epilepsy Behav. 2007;10(1):187-91.
Visual loss
CLN8 NCL
Child Electroencephalography Epilepsy Homo sapiens Italy Magnetic Resonance Imaging Male Membrane Proteins Mutation
3
(4.0%)		 16759889
 Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.
Bonsignore M, Tessa A, Di Rosa G, Piemonte F, Dionisi-Vici C, Simonati A, Calamoneri F, Tortorella G, Santorelli FM.
Eur J Paediatr Neurol. 2006;10(3):154-6.
Visual loss
PPT1
c|SUB|T|125-15|G;RS#:386833629
Brain Child Females Homo sapiens Italy Magnetic Resonance Imaging Male Membrane Proteins Mutation Neuromuscular Diseases Neuronal Ceroid-Lipofuscinoses Palmitoyl-CoA Hydrolase Phenotype Seizures Skin Thiolester Hydrolases Vision Disorders
3
(4.0%)		 15996215
 Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
Siintola E, Topcu M, Kohlschutter A, Salonen T, Joensuu T, Anttonen AK, Lehesjoki AE.
Clin Genet. 2005;68(2):167-73.
Seizure
CLN6 CLN8 MFSD8 NCL
c|SUB|C|663|G;RS#:104894486 c|SUB|G|542+5|T;RS#:786205066 rs104894486 rs786205066
Age of Onset Child, Preschool DNA Mutational Analysis Females Haplotypes Homo sapiens Male Membrane Proteins Neuronal Ceroid-Lipofuscinoses Point Mutation
3
(4.0%)		 12950156
 R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
Barisic N, Logan P, Pikija S, Skarpa D, Blau N.
Croat Med J. 2003;44(4):489-93.
Ataxia
TPP1
p|SUB|R|208|X;RS#:119455955 rs119455955 rs121908205
Age Factors Aminopeptidase Child, Preschool DNA Mutational Analysis Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Endopeptidases Females Follow-Up Studies Homo sapiens Mutation Neuronal Ceroid-Lipofuscinoses Peptide Hydrolases Pterins Serine Proteases Severity of Illness Index Tripeptidyl-Peptidase 1
3
(4.0%)		 12728477
 A case of late infantile neuronal ceroid lipofuscinosis.
Lee CW, Bang H, Oh YG, Yun HS, Kim JD, Coe CJ.
Yonsei Med J. 2003;44(2):331-5.
Visual loss
Child Homo sapiens Male Neuronal Ceroid-Lipofuscinoses
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000478 Abnormality of the eye Very frequent (99-80%)
HP:0000488 Retinopathy Very frequent (99-80%)
HP:0000504 Abnormality of vision Very frequent (99-80%)
HP:0000512 Abnormal electroretinogram Very frequent (99-80%)
HP:0000649 Abnormality of visual evoked potentials Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001251 Ataxia Very frequent (99-80%)
HP:0001336 Myoclonus Very frequent (99-80%)
HP:0002059 Cerebral atrophy Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0002376 Developmental regression Very frequent (99-80%)
HP:0009023 Abdominal wall muscle weakness Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 11

HPO ID Term # of case reports
HP:0001250 Seizures 5
HP:0000572 Visual loss 2
HP:0001251 Ataxia 2
HP:0002361 Psychomotor deterioration 2
HP:0000608 Macular degeneration 1
HP:0000618 Blindness 1
HP:0000726 Dementia 1
HP:0001662 Bradycardia 1
HP:0002072 Chorea 1
HP:0002333 Motor deterioration 1
HP:0011710 Bundle branch block 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID