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)
1
(39.0%)		 25439737
 Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
Craiu D, Dragostin O, Dica A, Hoffman-Zacharska D, Gos M, Bastian AE, Gherghiceanu M, Rolfs A, Nahavandi N, Craiu M, Iliescu C.
Eur J Paediatr Neurol. 2015;19(1):78-86.
Microcephaly
CLN5 MECP2 MFSD8
c|SUB|A|470,157|D,A c|SUB|C|881,294|T,K c|SUB|T|754+2|A;RS#:587778809 rs587778809
Age of Onset Ataxia Blindness Child Developmental Disabilities Disease Progression Electroencephalography Females Heterozygote Homo sapiens Lysosomes Magnetic Resonance Imaging Membrane Transport Proteins Mutation Neuronal Ceroid-Lipofuscinoses Rett Syndrome Seizures
2
(17.5%)		 27343025
 Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: AnAtypical Presentation.
Saini AG, Sankhyan N, Singhi P.
Pediatr Neurol. 2016;60:75-8.
Seizure Frequent falls
TPP1
c|SUB|G|89+1|A
Aminopeptidase Brain Child, Preschool Chorea Differential Diagnosis Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Females Homo sapiens Neuronal Ceroid-Lipofuscinoses Phenotype Serine Proteases Tripeptidyl-Peptidase 1
3
(4.0%)		 31105743
 Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis.
Ren XT, Wang XH, Ding CH, Shen X, Zhang H, Zhang WH, Li JW, Ren CH, Fang F.
Front Genet. 2019;10:370.
Seizure
CLN5 CLN6 CLN8 MFSD8 TPP1
c|INS|1551+1|TGAT c|SUB|A|554-5|G c|SUB|G|244|T
3
(4.0%)		 30285654
(6167792)
 A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.
Sun G, Yao F, Tian Z, Ma T, Yang Z.
BMC Med Genet. 2018;19(1):177.
Seizure
CLN6 NCL TPM3
c|SUB|G|892|A p|SUB|E|298|K
Adult Asians Base Sequence Child, Preschool Differential Diagnosis Electroencephalography Females Gene Expression Heterozygote Homo sapiens Homozygote Leukoencephalopathy Magnetic Resonance Imaging Male Membrane Proteins Missense Mutation Neuronal Ceroid-Lipofuscinoses Protein Domain Seizures
3
(4.0%)		 30144815
(6109285)
 A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
Kozina AA, Okuneva EG, Baryshnikova NV, Krasnenko AY, Tsukanov KY, Klimchuk OI, Kondakova OB, Larionova AN, Batysheva TT, Surkova EI, Shatalov PA, Ilinsky VV.
BMC Med Genet. 2018;19(1):151.
Visual loss
MECP2 MFSD8 NCL
c|SUB|T|525|A p|SUB|C|175|X
Child, Preschool Females Homo sapiens Membrane Transport Proteins Mutation Neuronal Ceroid-Lipofuscinoses Russia
3
(4.0%)		 27844444
 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
Sahin Y, Gungor O, Gormez Z, Demirci H, Erguner B, Gungor G, Dilber C.
Acta Neurol Belg. 2017;117(1):159-167.
Visual impairment
CLN8
c|SUB|T|677|C p|SUB|L|226|P rs1366421988 rs386834124 rs761621368
Adult DNA Mutational Analysis Exome Homo sapiens Homozygote Male Membrane Proteins Mutation Neuronal Ceroid-Lipofuscinoses Young Adult
3
(4.0%)		 27165443
 First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.
Sato R, Inui T, Endo W, Okubo Y, Takezawa Y, Anzai M, Morita H, Saitsu H, Matsumoto N, Haginoya K.
Brain Dev. 2016;38(9):852-6.
Visual loss
CLN6
Asians Brain DNA Mutational Analysis Differential Diagnosis Electroencephalography Homo sapiens Japan Magnetic Resonance Imaging Male Membrane Proteins Mutation Neuronal Ceroid-Lipofuscinoses Sequence Homology, Amino Acid
3
(4.0%)		 26443629
 Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
Katata Y, Uematsu M, Sato H, Suzuki S, Nakayama T, Kubota Y, Kobayashi T, Hino-Fukuyo N, Saitsu H, Kure S.
Brain Dev. 2016;38(3):341-5.
Nystagmus
CLN8 KCTD7 NCL PPT1
c|SUB|T|620|G;RS#:781166361 p|SUB|L|207|R;RS#:781166361
Child Genetic Association Studies Homo sapiens Japan Male Membrane Proteins Missense Mutation Myoclonic Epilepsy Neuronal Ceroid-Lipofuscinoses Sequence Analysis, DNA
3
(4.0%)		 25333361
(4198115)
 Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
Patino LC, Battu R, Ortega-Recalde O, Nallathambi J, Anandula VR, Renukaradhya U, Laissue P.
PLoS One. 2014;9(10):e109576.
Dementia
CLN5 CLN6 CLN8 KCTD7 MFSD8 PPT1
c|SUB|T|1219|C c|SUB|T|1361|C;RS#:559155109 p|SUB|M|454|T;RS#:559155109 p|SUB|W|407|R rs559155109 rs865358
Child Child, Preschool Exome Females High-Throughput Nucleotide Sequencing Homo sapiens Male Mutation Neuronal Ceroid-Lipofuscinoses Sequence Analysis, DNA
3
(4.0%)		 24082928
(3783717)
 Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases.
Setty G, Saleem R, Khan A, Hussain N.
J Pediatr Neurosci. 2013;8(2):117-9.
Progressive visual loss
CLN3 CLN5 NCL PPT1
        

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