Neuronal Ceroid-Lipofuscinoses disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

INCL MCID: NRN005 MIFTS: 50	Neuronal Ceroid-Lipofuscinoses (INCL) Categories: Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Neuronal ceroid lipofuscinosis

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

External Ids:

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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...

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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:

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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

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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

Acetylcysteine

Approved, Investigational

Phase 4

616-91-1

581 12035

Cysteamine

Approved, Investigational

Phase 4

60-23-1

6058

N-monoacetylcystine

Phase 4

Busulfan

Approved, Investigational

Phase 2, Phase 3

55-98-1

2478

Prednisolone phosphate

Approved, Vet_approved

Phase 2, Phase 3

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 2, Phase 3

52-21-1

Prednisolone

Approved, Vet_approved

Phase 2, Phase 3

50-24-8

4894 5755

Cyclophosphamide

Approved, Investigational

Phase 2, Phase 3

50-18-0, 6055-19-2

2907

Methylprednisolone hemisuccinate

Approved

Phase 2, Phase 3

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 2, Phase 3

83-43-2

4159 6741

Cisplatin

Approved

Phase 3

15663-27-1

2767 5702198 441203

Epirubicin

Approved

Phase 3

56420-45-2

41867

Capecitabine

Approved, Investigational

Phase 3

154361-50-9

60953

Trastuzumab

Approved, Investigational

Phase 3

180288-69-1

Oxaliplatin

Approved, Investigational

Phase 3

61825-94-3

43805 11947679 6857599

Mitomycin

Approved

Phase 3

50-07-7

5746

Metformin

Approved

Phase 3

1115-70-4, 657-24-9

4091

Empagliflozin

Approved

Phase 3

864070-44-0

73151030 11949646

Pioglitazone

Approved, Investigational

Phase 3

111025-46-8

4829

Magnesium sulfate

Approved, Investigational, Vet_approved

Phase 3

7487-88-9

Gemfibrozil

Approved

Phase 3

25812-30-0

3463

Prednisolone hemisuccinate

Experimental

Phase 2, Phase 3

2920-86-7

4897

Antirheumatic Agents

Phase 2, Phase 3

Alkylating Agents

Phase 2, Phase 3

Antineoplastic Agents, Alkylating

Phase 2, Phase 3

Antilymphocyte Serum

Phase 2, Phase 3

Methylprednisolone Acetate

Phase 2, Phase 3

584547

Immunosuppressive Agents

Phase 2, Phase 3

Immunologic Factors

Phase 2, Phase 3

Hormones

Phase 3

Sitagliptin Phosphate

Phase 3

654671-77-9

Hormone Antagonists

Phase 3

HIV Protease Inhibitors

Phase 3

Sodium-Glucose Transporter 2 Inhibitors

Phase 3

Dipeptidyl-Peptidase IV Inhibitors

Phase 3

Incretins

Phase 3

protease inhibitors

Phase 3

Anti-Arrhythmia Agents

Phase 3

Calcium, Dietary

Phase 3

Anticonvulsants

Phase 3

calcium channel blockers

Phase 3

Anesthetics

Phase 3

Analgesics

Phase 3

Tocolytic Agents

Phase 3

Antimetabolites

Phase 3

Hypolipidemic Agents

Phase 3

Pharmaceutical Solutions

Phase 3

Lipid Regulating Agents

Phase 3

Cytochrome P-450 Enzyme Inhibitors

Phase 3

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:

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

Sources

Genetic Tests for Neuronal Ceroid-Lipofuscinoses

Genetic tests related to Neuronal Ceroid-Lipofuscinoses:

#	Genetic test	Affiliating Genes
1	Infantile Neuronal Ceroid Lipofuscinosis ²⁸

Sources

Anatomical Context for Neuronal Ceroid-Lipofuscinoses

Organs/tissues related to Neuronal Ceroid-Lipofuscinoses:

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

Sources

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	Lu JY...Hofmann SL	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	Tamaki SJ...Uchida N	19733542	2009
3	A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. ⁵³ ⁶²	Vantaggiato C...Bassi MT	19431184	2009
4	Neuronal ceroid lipofuscinoses. ⁵³ ⁶²	Jalanko A...Braulke T	19084560	2009
5	Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. ⁵³ ⁶²	Aiello C...Santorelli FM	19177532	2009
6	A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. ⁵³ ⁶²	Stogmann E...Zimprich A	18850119	2009
7	RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis. ⁵³ ⁶²	Saha A...Mukherjee AB	18948101	2008
8	Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. ⁵³ ⁶²	Kim SJ...Mukherjee AB	18704195	2008
9	A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera. ⁵³ ⁶²	Galvin N...Sands MS	17990914	2008
10	Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis. ⁵³ ⁶²	Shacka JJ...Roth KA	17495518	2007
11	Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. ⁵³ ⁶²	Rakheja D...Bennett MJ	17896996	2007
12	Nitric oxide signaling is disrupted in the yeast model for Batten disease. ⁵³ ⁶²	Osorio NS...Rodrigues F	17475770	2007
13	Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. ⁵³ ⁶²	Lyly A...Jalanko A	17565660	2007
14	Production of lysophosphatidylcholine by cPLA2 in the brain of mice lacking PPT1 is a signal for phagocyte infiltration. ⁵³ ⁶²	Zhang Z...Mukherjee AB	17341491	2007
15	Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. ⁵³ ⁶²	Kyttala A...Hofmann SL	16839750	2006
16	Tripeptidyl-peptidase I in health and disease. ⁵³ ⁶²	Golabek AA...Kida E	16895480	2006
17	[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis]. ⁵³ ⁶²	Bi HY...Yuan Y	17044973	2006
18	Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL. ⁵³ ⁶²	Kim SJ...Mukherjee AB	16644870	2006
19	Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL. ⁵³ ⁶²	Kim SJ...Mukherjee AB	16571600	2006
20	CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis. ⁵³ ⁶²	Griffey MA...Sands MS	16364693	2006
21	Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: implications for treatment of infantile neuronal ceroid lipofuscinosis. ⁵³ ⁶²	Lu JY...Hofmann SL	16601878	2006
22	Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL. ⁵³ ⁶²	Zhang Z...Mukherjee AB	16368712	2006
23	[Tripeptidyl-peptidase I--distribution, biogenesis, and mechanisms of activation]. ⁵³ ⁶²	Golabek AA	16869297	2006
24	Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses. ⁵³ ⁶²	Myllykangas L...Feany MB	15837574	2005
25	Ser475, Glu272, Asp276, Asp327, and Asp360 are involved in catalytic activity of human tripeptidyl-peptidase I. ⁵³ ⁶²	Walus M...Golabek AA	15733845	2005
26	Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE). ⁵³ ⁶²	Zhong N...Brown WT	15719035	2005
27	Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). ⁵³ ⁶²	Weleber RG...Milam AH	15464427	2004
28	Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect. ⁵³ ⁶²	de los Reyes E...Mrak RE	15032383	2004
29	Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease. ⁵³ ⁶²	Mao Q...Davidson BL	14644441	2003
30	Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features. ⁵³ ⁶²	Gupta P...Hofmann SL	14528005	2003
31	Palmitoyl protein thioesterase 1 is targeted to the axons in neurons. ⁵³ ⁶²	Ahtiainen L...Kopra O	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	Salonen T...Jalanko A	11520175	2001
33	Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. ⁵³ ⁶²	van Diggelen OP...Voznyi YV	11506414	2001
34	Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. ⁵³ ⁶²	Das AK...Hofmann SL	11440996	2001
35	Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders. ⁵³ ⁶²	Wisniewski KE...Golabek AA	11589013	2001
36	Positional candidate gene cloning of CLN1. ⁵³ ⁶²	Hofmann SL...Soyombo AA	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	Young EP...Winchester BG	11588996	2001
38	Role of palmitoyl-protein thioesterase in cell death: implications for infantile neuronal ceroid lipofuscinosis. ⁵³ ⁶²	Cho S...Dawson G	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	Cho S...Dawson G	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	Heinonen O...Copp A	10992246	2000
41	Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3. ⁵³ ⁶²	Chattopadhyay S...Pearce DA	11001812	2000
42	The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. ⁵³ ⁶²	Bellizzi JJ...Clardy J	10781062	2000
43	Palmitoyl protein thioesterase 1 protects against apoptosis mediated by Ras-Akt-caspase pathway in neuroblastoma cells. ⁵³ ⁶²	Cho S...Dawson G	10737604	2000
44	Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. ⁵³ ⁶²	Waliany S...Hofmann SL	10649502	2000
45	Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). ⁵³ ⁶²	Salonen T...Jalanko A	10679943	2000
46	In vitro depalmitoylation of neurospecific peptides: implication for infantile neuronal ceroid lipofuscinosis. ⁵³ ⁶²	Cho S...Dawson G	10658183	2000
47	The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. ⁵³ ⁶²	Ranta S...Lehesjoki AE	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	Sohar I...Lobel P	10428067	1999
49	A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants. ⁵³ ⁶²	Voznyi YV...van Diggelen OP	10874636	1999
50	First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. ⁵³ ⁶²	de Vries BB...van Diggelen OP	10416973	1999

Sources

Genes for Neuronal Ceroid-Lipofuscinoses

Genes related to Neuronal Ceroid-Lipofuscinoses (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PPT1	Palmitoyl-Protein Thioesterase 1	Protein Coding	44.14	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10992246 15719035 11001812 (more) 19431184 10649502 10416973 10781062 16601878 8786130 8325646 10874636 10679943 15464427 18948101 8803767 11020216 11332777 12483688 14528005 9571187 17341491 11589008 10658183 8633062 20036592 18704195 16368712 17044973 10737604 9685319 9247083 9151315 17565660 16364693 11588996 11506414 11440996 10231585 9648881 17990914 16644870 11520175 10191108 16571600 19733542 8020979 9664077 10191116
2	CLN3	CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin	Protein Coding	42.9	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	15032383 11001812 17896996 (more) 18552385 14644441 17475770
3	CLN5	CLN5 Intracellular Trafficking Protein	Protein Coding	42.38	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	10992246 16839750 18850119 (more) 19084560 19177532 19431184
4	CLN6	CLN6 Transmembrane ER Protein	Protein Coding	41.95	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	19431184
5	CLN8	CLN8 Transmembrane ER And ERGIC Protein	Protein Coding	41.85	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	19431184 10508524 15629147

Sources

Variations for Neuronal Ceroid-Lipofuscinoses

Sources

Expression for Neuronal Ceroid-Lipofuscinoses

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

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Pathways for Neuronal Ceroid-Lipofuscinoses

Sources

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