INCL
MCID: NRN005
MIFTS: 50

Neuronal Ceroid-Lipofuscinoses (INCL)

Categories: Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Neuronal Ceroid-Lipofuscinoses

MalaCards integrated aliases for Neuronal Ceroid-Lipofuscinoses:

Name: Neuronal Ceroid-Lipofuscinoses 39 36 71
Infantile Neuronal Ceroid Lipofuscinosis 19 58 28 53 75
Santavuori Disease 19 58 75
Hagberg-Santavuori Disease 19 58
Santavuori-Haltia Disease 19 58
Infantile Ncl 19 58
Incl 19 58
Neuronal Ceroid-Lipofuscinosis, Infantile 39
Juvenile Neuronal Ceroid Lipofuscinosis 71
Neuronal Ceroid Lipofuscinoses 53
Lipofuscin Storage Disease 19

Characteristics:


Inheritance:

Infantile Neuronal Ceroid Lipofuscinosis: Autosomal recessive 58

Prevelance:

Infantile Neuronal Ceroid Lipofuscinosis: <1/1000000 (Europe, Sweden, Norway) 1-9/1000000 (Sweden, Finland) 1-9/100000 (Finland) 58

Age Of Onset:

Infantile Neuronal Ceroid Lipofuscinosis: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

MESH via Orphanet 44 C537948
ICD10 via Orphanet 32 E75.4
UMLS via Orphanet 72 C0268281 C2931673
Orphanet 58 ORPHA79263
UMLS 71 C0027877 C0751383

Summaries for Neuronal Ceroid-Lipofuscinoses

Orphanet: 58 Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.

MalaCards based summary: Neuronal Ceroid-Lipofuscinoses, also known as infantile neuronal ceroid lipofuscinosis, is related to ceroid lipofuscinosis, neuronal, 6a and ceroid lipofuscinosis, neuronal, 9, and has symptoms including myoclonus, abnormality of extrapyramidal motor function and seizures. An important gene associated with Neuronal Ceroid-Lipofuscinoses is PPT1 (Palmitoyl-Protein Thioesterase 1). The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone marrow, and related phenotypes are spasticity and cerebral cortical atrophy

Wikipedia: 75 Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease or Hagberg-Santavuori disease or... more...

Related Diseases for Neuronal Ceroid-Lipofuscinoses

Diseases related to Neuronal Ceroid-Lipofuscinoses via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 215)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 6a 32.2 CLN6 CLN5
2 ceroid lipofuscinosis, neuronal, 9 31.9 PPT1 CLN8
3 ceroid lipofuscinosis, neuronal, 6b 31.7 PPT1 CLN6
4 ceroid lipofuscinosis, neuronal, 7 31.4 PPT1 CLN8 CLN6 CLN3
5 neuronal ceroid lipofuscinosis 31.3 PPT1 CLN8 CLN6 CLN5 CLN3
6 ceroid lipofuscinosis, neuronal, 3 31.3 PPT1 CLN8 CLN6 CLN5 CLN3
7 ceroid lipofuscinosis, neuronal, 2 31.1 PPT1 CLN8 CLN6 CLN5 CLN3
8 ceroid lipofuscinosis, neuronal, 13 31.0 CLN8 CLN6 CLN5 CLN3
9 ceroid lipofuscinosis, neuronal, 10 31.0 PPT1 CLN8 CLN6 CLN5 CLN3
10 ceroid lipofuscinosis, neuronal, 11 30.8 PPT1 CLN8 CLN6 CLN5 CLN3
11 lysosomal storage disease 30.7 PPT1 CLN3
12 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 30.6 PPT1 CLN8 CLN6 CLN5 CLN3
13 peripheral retinal degeneration 30.4 PPT1 CLN5 CLN3
14 retinal degeneration 30.3 PPT1 CLN5 CLN3
15 photosensitive epilepsy 30.2 PPT1 CLN6
16 aspartylglucosaminuria 30.2 CLN6 CLN3
17 epilepsy 30.0 CLN8 CLN6 CLN5
18 gangliosidosis 29.6 PPT1 CLN6 CLN3
19 gm1 gangliosidosis 29.6 PPT1 CLN6 CLN3
20 niemann-pick disease 29.6 PPT1 CLN3
21 scheie syndrome 29.6 PPT1 CLN6 CLN3
22 cone-rod dystrophy 2 29.6 PPT1 CLN8 CLN3
23 niemann-pick disease, type c1 29.5 CLN5 CLN3
24 unverricht-lundborg syndrome 29.5 PPT1 CLN6 CLN5 CLN3
25 visual epilepsy 29.5 PPT1 CLN8 CLN6 CLN5
26 early myoclonic encephalopathy 29.3 PPT1 CLN8 CLN6 CLN5 CLN3
27 progressive myoclonus epilepsy 29.2 PPT1 CLN8 CLN6 CLN5 CLN3
28 tay-sachs disease 29.2 PPT1 CLN6 CLN5 CLN3
29 fundus dystrophy 29.1 PPT1 CLN6 CLN5 CLN3
30 spinocerebellar ataxia, autosomal recessive 7 29.1 PPT1 CLN8 CLN6 CLN5 CLN3
31 ceroid lipofuscinosis, neuronal, 1 11.8
32 ceroid lipofuscinosis, neuronal, 8 11.7
33 ceroid lipofuscinosis, neuronal, 5 11.7
34 ceroid lipofuscinosis, neuronal, 4 11.5
35 adult neuronal ceroid lipofuscinosis 11.4
36 epiphyseal dysplasia hearing loss dysmorphism 11.1
37 hemifacial microsomia with radial defects 11.0
38 spondylometaepiphyseal dysplasia, short limb-hand type 11.0
39 n syndrome 11.0
40 loeys-dietz syndrome 3 11.0
41 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 11.0
42 8p23.1 duplication syndrome 11.0
43 axial mesodermal dysplasia spectrum 11.0
44 chromosome 15, trisomy mosaicism 11.0
45 coloboma of iris 11.0
46 demodicidosis 11.0
47 dysmorphism cleft palate loose skin 11.0
48 ring chromosome 12 11.0
49 ring chromosome 19 11.0
50 ring chromosome 3 11.0

Graphical network of the top 20 diseases related to Neuronal Ceroid-Lipofuscinoses:



Diseases related to Neuronal Ceroid-Lipofuscinoses

Symptoms & Phenotypes for Neuronal Ceroid-Lipofuscinoses

Human phenotypes related to Neuronal Ceroid-Lipofuscinoses:

58 30 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001257
2 cerebral cortical atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002120
3 poor head control 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002421
4 abnormal enzyme/coenzyme activity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012379
5 poor fine motor coordination 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007010
6 interictal eeg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0025373
7 granular osmiophilic deposits (grod) in cells 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003657
8 motor regression 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0033044
9 increased neuronal autofluorescent lipopigment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002074
10 motor deterioration 58 30 Frequent (33%) Frequent (79-30%)
HP:0002333
11 dystonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001332
12 dementia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000726
13 unsteady gait 58 30 Frequent (33%) Frequent (79-30%)
HP:0002317
14 visual loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0000572
15 clumsiness 58 30 Frequent (33%) Frequent (79-30%)
HP:0002312
16 generalized-onset seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002197
17 progressive visual field defects 58 30 Frequent (33%) Frequent (79-30%)
HP:0007987
18 myoclonic spasms 58 30 Frequent (33%) Frequent (79-30%)
HP:0003739
19 delayed ability to sit 58 30 Frequent (33%) Frequent (79-30%)
HP:0025336
20 undetectable electroretinogram 58 30 Frequent (33%) Frequent (79-30%)
HP:0000550
21 abnormal amplitude of pattern electroretinogram 58 30 Frequent (33%) Frequent (79-30%)
HP:0030485
22 dysarthria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001260
23 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
24 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
25 chorea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002072
26 delayed speech and language development 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000750
27 blindness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000618
28 dysmetria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001310
29 cerebellar atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001272
30 autistic behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000729
31 eeg with generalized slow activity grade 4 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011209
32 seizure 58 Frequent (79-30%)
33 ataxia 58 Frequent (79-30%)
34 developmental regression 58 Very frequent (99-80%)
35 cognitive impairment 58 Very frequent (99-80%)
36 myoclonus 58 Frequent (79-30%)
37 cerebral atrophy 58 Very frequent (99-80%)
38 brain atrophy 58 Very frequent (99-80%)

UMLS symptoms related to Neuronal Ceroid-Lipofuscinoses:


myoclonus; abnormality of extrapyramidal motor function; seizures; cerebellar signs

MGI Mouse Phenotypes related to Neuronal Ceroid-Lipofuscinoses:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 CLN3 CLN5 CLN6 CLN8 PPT1
2 vision/eye MP:0005391 9.02 CLN3 CLN5 CLN6 CLN8 PPT1

Drugs & Therapeutics for Neuronal Ceroid-Lipofuscinoses

Drugs for Neuronal Ceroid-Lipofuscinoses (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 581 12035
2
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
3 N-monoacetylcystine Phase 4
4
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
5
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
6
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
7
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 4894 5755
8
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
9
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5 1875
10
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 4159 6741
11
Cisplatin Approved Phase 3 15663-27-1 2767 5702198 441203
12
Epirubicin Approved Phase 3 56420-45-2 41867
13
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
14
Trastuzumab Approved, Investigational Phase 3 180288-69-1
15
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 43805 11947679 6857599
16
Mitomycin Approved Phase 3 50-07-7 5746
17
Metformin Approved Phase 3 1115-70-4, 657-24-9 4091
18
Empagliflozin Approved Phase 3 864070-44-0 73151030 11949646
19
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
20
Magnesium sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9
21
Gemfibrozil Approved Phase 3 25812-30-0 3463
22
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7 4897
23 Antirheumatic Agents Phase 2, Phase 3
24 Alkylating Agents Phase 2, Phase 3
25 Antineoplastic Agents, Alkylating Phase 2, Phase 3
26 Antilymphocyte Serum Phase 2, Phase 3
27
Methylprednisolone Acetate Phase 2, Phase 3 584547
28 Immunosuppressive Agents Phase 2, Phase 3
29 Immunologic Factors Phase 2, Phase 3
30 Hormones Phase 3
31
Sitagliptin Phosphate Phase 3 654671-77-9
32 Hormone Antagonists Phase 3
33 HIV Protease Inhibitors Phase 3
34 Sodium-Glucose Transporter 2 Inhibitors Phase 3
35 Dipeptidyl-Peptidase IV Inhibitors Phase 3
36 Incretins Phase 3
37
protease inhibitors Phase 3
38 Anti-Arrhythmia Agents Phase 3
39 Calcium, Dietary Phase 3
40 Anticonvulsants Phase 3
41 calcium channel blockers Phase 3
42 Anesthetics Phase 3
43 Analgesics Phase 3
44 Tocolytic Agents Phase 3
45 Antimetabolites Phase 3
46 Hypolipidemic Agents Phase 3
47 Pharmaceutical Solutions Phase 3
48 Lipid Regulating Agents Phase 3
49 Cytochrome P-450 Enzyme Inhibitors Phase 3
50
Calcium Nutraceutical Phase 3 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 A Combination Therapy With Cystagon and N-Acetylcysteine for INCL Patients Completed NCT00028262 Phase 4 Cystagon
2 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 Prospective Multicenter Phase III Trial Using CRS With / Without HIPEC After Preoperative Chemotherapy in Patients With Peritoneal Carcinomatosis of Gastric Cancer Incl. Adenocarcinoma of the Esophagogastric Junction Completed NCT02158988 Phase 3
4 A Phase III Double-blind, Extension, Placebo-controlled Parallel Group Safety and Efficacy Trial of BI 10773 (10 and 25mg Once Daily) and Sitagliptin (100mg Once Daily) Given for Minimum 76 Weeks (Incl. 24 Weeks of Preceding Trial) as Monotherapy or With Different Back-ground Therapies in Patients With Type 2 Diabetes Mellitus Previously Completing Trial 1245.19, 1245.20 or 1245.23 Completed NCT01289990 Phase 3 BI 10773;Placebo;Sitagliptin 100mg
5 Perioperative Magnesium Sulphate as a Cerebral Protector in Neurosurgical Patients Completed NCT01601314 Phase 3 Magnesium Sulfate
6 A Randomized. Multicenter, Double-Blind, Placebo-Controlled Safety, Tolerability, and Efficacy Study of PLX-200 in Participants With Mild-to-Moderate Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Disease Not yet recruiting NCT04637282 Phase 3 PLX-200;Placebo
7 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease Completed NCT01907087 Phase 1, Phase 2
8 Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9 Completed NCT02725580 Phase 1, Phase 2
9 A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Completed NCT02678689 Phase 2
10 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Completed NCT02485899 Phase 1, Phase 2
11 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With LINCL With Uncommon Genotypes and/or Moderate to Severe Impairment Completed NCT01414985 Phase 1, Phase 2
12 Phase II, Randomized, Placebo Controlled Trial of the Safety and Tolerability of Mycophenolate in Children With Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2 Mycophenolate mofetil;Liquid Placebo
13 A Phase 1/2 Intracerebroventricular and Intravitreal Administration of NGN-101 for Treatment of Neuronal Ceroid Lipofuscinosis (NCL) Subtype 5 (CLN5) Disease Recruiting NCT05228145 Phase 1, Phase 2
14 A Proof of Concept Trial of a Sirtuin-NAD Activator in Alzheimer's Disease Recruiting NCT05040321 Phase 1, Phase 2 MIB-626;Placebo
15 Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9 Active, not recruiting NCT03770572 Phase 1, Phase 2
16 An Open-label Safety, Pharmacokinetic, and Efficacy Study of the Combination of Miglustat for the Treatment of CLN3 Disease in Patients 17 Years of Age and Older Active, not recruiting NCT05174039 Phase 1, Phase 2 Miglustat 100Mg Oral Capsule
17 Intravitreal Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Enrolling by invitation NCT05152914 Phase 1, Phase 2 Cerliponase Alfa
18 Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children With Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151216 Phase 1
19 Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Completed NCT01161576 Phase 1
20 A Phase I Study of the Safety and Preliminary Effectiveness of Human CNS Stem Cells (HuCNS-SC) in Patients With Neuronal Ceroid Lipofuscinosis Caused by Palmitoyl Protein Thioesterase 1 (PPT1) or Tripeptidyl Peptidase 1 (TPP-I) Deficiency Completed NCT00337636 Phase 1 Medication to suppress the immune system
21 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Completed NCT01586455 Phase 1 Human Placental Derived Stem Cell
22 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
23 A Phase Ib Study of the Safety and Preliminary Efficacy of Allogeneic Intracerebral Human Central Nervous System Stem Cell Transplantation in Subjects With Non-Refractory Infantile and Late Infantile Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
24 Using Normalization Process Theory to Evaluate Providing Pediatric Palliative Care at End-of-Life as Web-Based Training Intervention for Nurses: Unknown status NCT04461561
25 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT01035424
26 Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00151268
27 A Study in Subjects With Neuronal Ceroid Lipofuscinoses Taking Trehalose Completed NCT04808297
28 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
29 Natural History of Progression of Atrophy Secondary to Stargardt Disease: Retrospective, and Prospective Longitudinal Observational Study Incl. Ancillary SMART Study- Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease Completed NCT01977846
30 Reducing Visitors- and Personnel-associated Infection Risk by Special Agitation Incl. Voice Prompts for Hand Disinfection on Perinatal Care Stations Completed NCT03032887
31 NEW ERA STUDY - HIV and Eradication: A Multicenter, Open-label, Non-randomized Trial to Evaluate Treatment With Multi-drug Class (MDC) HAART and Its Impact on the Decay Rate of Latently Infected CD4+ T Cells Incl. Amendment 1.0 Completed NCT00908544
32 IMOVE: Improvisational Movement for People With Memory Loss and Their Caregivers Completed NCT03333837
33 A Study to Evaluate the Ability of Speech- and Language-based Digital Biomarkers to Detect and Characterise Prodromal and Preclinical Alzheimer's Disease in a Clinical Setting Completed NCT04928976
34 A Study to Evaluate the Ability of Speech- and Language-based Digital Biomarkers to Detect and Characterise Prodromal and Preclinical Alzheimer's Disease in a Clinical Setting Completed NCT04828122
35 A Culturally-Relevant Approach to Reducing Dementia Caregiver Stress in an Underserved Population Completed NCT03218982
36 Statistical Mapping of the Brain in Progressive Supranuclear Palsy, Essential Tremor, Parkinson Disease, Parkinsonism, and REM Behavior Disorder Completed NCT01547481
37 A Natural History and Outcome Measure Discovery Study of Variant Late Infantile Neuronal Ceroid Lipofuscinosis Type 5 (CLN5) and Variant Late Infantile Neuronal Ceroid Lipofuscinosis Type 7 (CLN7) Recruiting NCT03822650
38 Cerliponase Alfa Observational Study Recruiting NCT04476862 Cerliponase Alfa
39 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease Recruiting NCT03862274
40 Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database Recruiting NCT04613089
41 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
42 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Recruiting NCT03307304
43 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
44 Pilot Study of the Use of Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls Recruiting NCT05642221
45 Foundation Fighting Blindness My Retina Tracker Registry Recruiting NCT02435940
46 Caregiving Networks Across Disease Context and the Life Course: A Comparative Longitudinal Study Recruiting NCT05007990
47 Thetha Nami Ngithethe Nawe ("Let's Talk"): A Step-wedge cRCT of Social Mobilisation by Peer-navigators Into Community-based Sexual Health and HIV Care (Incl. PrEP) to Reduce Sexually Transmissible HIV Amongst Youth in Rural KwaZulu-Natal Recruiting NCT05405582
48 A Study to Evaluate the Ability of Speech- and Language-based Digital Biomarkers to Detect and Characterise Prodromal and Preclinical Alzheimer's Disease in a Clinical Setting - AMYPRED-US PAST Extension Study Recruiting NCT04937959
49 Beyond Listening: A Music-based Caregiver Intervention Recruiting NCT04840173
50 A Study to Evaluate the Ability of Speech- and Language-based Digital Biomarkers to Detect and Characterise Prodromal and Preclinical Alzheimer's Disease in a Clinical Setting - PAST Extension Study. Recruiting NCT04851496

Search NIH Clinical Center for Neuronal Ceroid-Lipofuscinoses

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Neuronal Ceroid-Lipofuscinoses cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Neuronal Ceroid-Lipofuscinoses:
HuCNS-SC, human central nervous system stem cells for neurological diseases
Embryonic/Adult Cultured Cells Related to Neuronal Ceroid-Lipofuscinoses:
Human neural stem cells (HuCNS-SC) PMIDs: 16610769

Genetic Tests for Neuronal Ceroid-Lipofuscinoses

Genetic tests related to Neuronal Ceroid-Lipofuscinoses:

# Genetic test Affiliating Genes
1 Infantile Neuronal Ceroid Lipofuscinosis 28

Anatomical Context for Neuronal Ceroid-Lipofuscinoses

Organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

MalaCards : Eye, Brain, Bone Marrow, Retina, T Cells, Bone, Liver

Publications for Neuronal Ceroid-Lipofuscinoses

Articles related to Neuronal Ceroid-Lipofuscinoses:

(show top 50) (show all 2777)
# Title Authors PMID Year
1
Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis. 53 62
20036592 2010
2
Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis. 53 62
19733542 2009
3
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. 53 62
19431184 2009
4
Neuronal ceroid lipofuscinoses. 53 62
19084560 2009
5
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 53 62
19177532 2009
6
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 53 62
18850119 2009
7
RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis. 53 62
18948101 2008
8
Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. 53 62
18704195 2008
9
A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera. 53 62
17990914 2008
10
Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis. 53 62
17495518 2007
11
Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. 53 62
17896996 2007
12
Nitric oxide signaling is disrupted in the yeast model for Batten disease. 53 62
17475770 2007
13
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 53 62
17565660 2007
14
Production of lysophosphatidylcholine by cPLA2 in the brain of mice lacking PPT1 is a signal for phagocyte infiltration. 53 62
17341491 2007
15
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. 53 62
16839750 2006
16
Tripeptidyl-peptidase I in health and disease. 53 62
16895480 2006
17
[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis]. 53 62
17044973 2006
18
Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL. 53 62
16644870 2006
19
Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL. 53 62
16571600 2006
20
CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis. 53 62
16364693 2006
21
Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: implications for treatment of infantile neuronal ceroid lipofuscinosis. 53 62
16601878 2006
22
Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL. 53 62
16368712 2006
23
[Tripeptidyl-peptidase I--distribution, biogenesis, and mechanisms of activation]. 53 62
16869297 2006
24
Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses. 53 62
15837574 2005
25
Ser475, Glu272, Asp276, Asp327, and Asp360 are involved in catalytic activity of human tripeptidyl-peptidase I. 53 62
15733845 2005
26
Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). 53 62
15719035 2005
27
Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). 53 62
15464427 2004
28
Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect. 53 62
15032383 2004
29
Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease. 53 62
14644441 2003
30
Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features. 53 62
14528005 2003
31
Palmitoyl protein thioesterase 1 is targeted to the axons in neurons. 53 62
12483688 2003
32
Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis. 53 62
11520175 2001
33
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. 53 62
11506414 2001
34
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 53 62
11440996 2001
35
Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders. 53 62
11589013 2001
36
Positional candidate gene cloning of CLN1. 53 62
11332777 2001
37
Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities. 53 62
11588996 2001
38
Role of palmitoyl-protein thioesterase in cell death: implications for infantile neuronal ceroid lipofuscinosis. 53 62
11589008 2001
39
Antisense palmitoyl protein thioesterase 1 (PPT1) treatment inhibits PPT1 activity and increases cell death in LA-N-5 neuroblastoma cells. 53 62
11020216 2000
40
CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain. 53 62
10992246 2000
41
Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3. 53 62
11001812 2000
42
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. 53 62
10781062 2000
43
Palmitoyl protein thioesterase 1 protects against apoptosis mediated by Ras-Akt-caspase pathway in neuroblastoma cells. 53 62
10737604 2000
44
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. 53 62
10649502 2000
45
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 53 62
10679943 2000
46
In vitro depalmitoylation of neurospecific peptides: implication for infantile neuronal ceroid lipofuscinosis. 53 62
10658183 2000
47
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. 53 62
10508524 1999
48
Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. 53 62
10428067 1999
49
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants. 53 62
10874636 1999
50
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. 53 62
10416973 1999

Variations for Neuronal Ceroid-Lipofuscinoses

Expression for Neuronal Ceroid-Lipofuscinoses

Search GEO for disease gene expression data for Neuronal Ceroid-Lipofuscinoses.

Pathways for Neuronal Ceroid-Lipofuscinoses

GO Terms for Neuronal Ceroid-Lipofuscinoses

Cellular components related to Neuronal Ceroid-Lipofuscinoses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.76 CLN8 CLN6 CLN5 CLN3
2 lysosome GO:0005764 9.43 PPT1 CLN5 CLN3
3 membrane raft GO:0045121 9.1 PPT1 CLN6 CLN3

Biological processes related to Neuronal Ceroid-Lipofuscinoses according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.97 PPT1 CLN8 CLN6 CLN5
2 negative regulation of neuron apoptotic process GO:0043524 9.91 PPT1 CLN8 CLN3
3 protein catabolic process GO:0030163 9.86 PPT1 CLN8 CLN6 CLN5
4 cholesterol metabolic process GO:0008203 9.83 CLN8 CLN6
5 receptor-mediated endocytosis GO:0006898 9.81 PPT1 CLN3
6 associative learning GO:0008306 9.8 CLN3 CLN8 PPT1
7 neuromuscular process controlling balance GO:0050885 9.78 CLN8 CLN3
8 negative regulation of proteolysis GO:0045861 9.76 CLN8 CLN3
9 positive regulation of pinocytosis GO:0048549 9.71 PPT1 CLN3
10 adult locomotory behavior GO:0008344 9.67 PPT1 CLN8
11 cellular macromolecule catabolic process GO:0044265 9.63 PPT1 CLN8 CLN6
12 lysosomal lumen acidification GO:0007042 9.56 PPT1 CLN6 CLN5 CLN3
13 lysosome organization GO:0007040 9.28 PPT1 CLN8 CLN6 CLN5 CLN3

Molecular functions related to Neuronal Ceroid-Lipofuscinoses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysophosphatidic acid binding GO:0035727 9.26 PPT1 CLN6
2 sulfatide binding GO:0120146 9.1 PPT1 CLN6 CLN3

Sources for Neuronal Ceroid-Lipofuscinoses

2 CDC
6 CNVD
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10 DGIdb
16 EFO
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18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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