MCID: ADL066
MIFTS: 47

Adult Neuronal Ceroid Lipofuscinosis

Categories: Rare diseases, Metabolic diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Adult Neuronal Ceroid Lipofuscinosis

MalaCards integrated aliases for Adult Neuronal Ceroid Lipofuscinosis:

Name: Adult Neuronal Ceroid Lipofuscinosis 49 55 28 69
Kufs Disease 49 55
Adult Ncl 49 55
Ancl 49 55
Cln4 Disease, Adult Autosomal Dominant 49
Neuronal Ceroid Lipofuscinosis 4 49
Kuf's Disease 49

Characteristics:

Orphanet epidemiological data:

55
adult neuronal ceroid lipofuscinosis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult; Age of death: adult;

Classifications:



External Ids:

Orphanet 55 ORPHA79262
UMLS via Orphanet 70 C0022797 C2931675
MESH via Orphanet 42 C537950
ICD10 via Orphanet 33 E75.4
UMLS 69 C0022797

Summaries for Adult Neuronal Ceroid Lipofuscinosis

NIH Rare Diseases : 49 Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms:Type A is characterized by a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy); dementia; difficulties with muscle coordination (ataxia); involuntary movements such as tremors or tics; and dysarthria. It is caused by changes (mutations) in the CLN6 or PPT1 gene and is inherited in an autosomal recessive manner. Type B shares many features with type A; however, affected people also experience behavioral abnormalities and do not develop myoclonic epilepsy or dysarthria. It can be caused by mutations in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options for adult neuronal ceroid lipofuscinosis are limited to therapies that can help relieve some of the symptoms. Last updated: 8/30/2015

MalaCards based summary : Adult Neuronal Ceroid Lipofuscinosis, also known as kufs disease, is related to neuronal ceroid lipofuscinosis and ceroid lipofuscinosis, neuronal, 4b, autosomal dominant, and has symptoms including visual loss, optic atrophy and psychotic episodes. An important gene associated with Adult Neuronal Ceroid Lipofuscinosis is CLN6 (CLN6, Transmembrane ER Protein), and among its related pathways/superpathways is Lysosome. The drugs Cysteamine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include retina, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Adult Neuronal Ceroid Lipofuscinosis

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6
Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 11
Ceroid Lipofuscinosis, Neuronal, 13 Adult Neuronal Ceroid Lipofuscinosis

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 neuronal ceroid lipofuscinosis 29.5 CLN6 DNAJC5 PPT1 PSAP TPP1
2 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.9
3 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.9
4 cln4 disease 11.9
5 neuronitis 10.7
6 glioma 10.1
7 visual epilepsy 9.8 CLN6 DNAJC5
8 ceroid storage disease 9.7 CLN6 TPP1
9 ceroid lipofuscinosis, neuronal, 7 9.7 CLN6 DNAJC5 PPT1
10 ceroid lipofuscinosis, neuronal, 11 9.7 CLN6 DNAJC5 PPT1
11 lysosomal storage disease 9.6 PPT1 TPP1
12 ceroid lipofuscinosis, neuronal, 3 9.5 CLN6 PPT1 TPP1
13 ceroid lipofuscinosis, neuronal, 1 9.3 CLN6 DNAJC5 PPT1 TPP1
14 ceroid lipofuscinosis, neuronal, 2 9.3 CLN6 DNAJC5 PPT1 TPP1
15 lipid storage disease 9.2 CLN6 PPT1 PSAP TPP1
16 neuronal ceroid-lipofuscinoses 9.0 CLN6 DNAJC5 PPT1 PSAP TPP1

Graphical network of the top 20 diseases related to Adult Neuronal Ceroid Lipofuscinosis:



Diseases related to Adult Neuronal Ceroid Lipofuscinosis

Symptoms & Phenotypes for Adult Neuronal Ceroid Lipofuscinosis

Human phenotypes related to Adult Neuronal Ceroid Lipofuscinosis:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0000572
2 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
3 psychotic episodes 55 31 hallmark (90%) Very frequent (99-80%) HP:0000725
4 dementia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000726
5 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
6 myoclonus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001336
7 abnormality of extrapyramidal motor function 55 31 hallmark (90%) Very frequent (99-80%) HP:0002071
8 generalized myoclonic seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002123
9 orofacial dyskinesia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002310
10 motor deterioration 55 31 hallmark (90%) Very frequent (99-80%) HP:0002333
11 abnormal pyramidal signs 55 31 hallmark (90%) Very frequent (99-80%) HP:0007256
12 mental deterioration 55 Very frequent (99-80%)

UMLS symptoms related to Adult Neuronal Ceroid Lipofuscinosis:


abnormality of extrapyramidal motor function, seizures, myoclonus, cerebellar ataxia

GenomeRNAi Phenotypes related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.28 PSAP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.28 PDCD6IP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.28 PPT1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.28 PPT1 PSAP PDCD6IP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.28 PPT1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.28 PPT1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.28 PPT1

MGI Mouse Phenotypes related to Adult Neuronal Ceroid Lipofuscinosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.46 DNAJC5 PPT1 PSAP TPP1
2 nervous system MP:0003631 9.43 DNAJC5 PDCD6IP PPT1 PSAP TPP1 CLN6
3 vision/eye MP:0005391 8.92 DNAJC5 PPT1 PSAP CLN6

Drugs & Therapeutics for Adult Neuronal Ceroid Lipofuscinosis

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
2
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
3 Respiratory System Agents Phase 4
4 N-monoacetylcystine Phase 4
5 Antidotes Phase 4
6 Anti-Infective Agents Phase 4,Phase 2
7 Expectorants Phase 4
8 Protective Agents Phase 4
9 Antioxidants Phase 4
10 Antiviral Agents Phase 4
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
12
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
13
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
14
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
15 Prednisolone acetate Phase 2, Phase 3
16 Alkylating Agents Phase 2, Phase 3
17 Methylprednisolone acetate Phase 2, Phase 3
18 Methylprednisolone Hemisuccinate Phase 2, Phase 3
19 Antilymphocyte Serum Phase 2, Phase 3
20 Prednisolone hemisuccinate Phase 2, Phase 3
21 Immunosuppressive Agents Phase 2, Phase 3
22 Prednisolone phosphate Phase 2, Phase 3
23 Antirheumatic Agents Phase 2, Phase 3
24
Mycophenolic acid Approved Phase 2 24280-93-1 446541
25
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
26
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
27 Anti-Bacterial Agents Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Antitubercular Agents Phase 2
30
Menthol Approved Phase 1 2216-51-5 16666

Interventional clinical trials:

(show all 24)

# Name Status NCT ID Phase Drugs
1 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
3 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 (CLN2) Disease Completed NCT01907087 Phase 1, Phase 2
4 Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis Completed NCT01399047 Phase 2 Mycophenolate mofetil;Liquid Placebo
5 Batten CLN6 Gene Therapy Recruiting NCT02725580 Phase 1, Phase 2 scAVV9.CB.CLN6
6 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01414985 Phase 1, Phase 2
7 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Active, not recruiting NCT02485899 Phase 1, Phase 2
8 A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Enrolling by invitation NCT02678689 Phase 2
9 Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) Completed NCT00337636 Phase 1 Medication to suppress the immune system
10 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
11 Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
12 Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) Active, not recruiting NCT01161576 Phase 1
13 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
14 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis Withdrawn NCT01238315 Phase 1
15 Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Completed NCT01966757
16 Genotype - Phenotype Correlations of LINCL Completed NCT00151268
17 Investigations of Juvenile Neuronal Ceroid Lipofuscinosis Recruiting NCT03307304
18 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924
19 Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae Recruiting NCT03285425
20 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
22 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
23 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT01035424
24 Collection of Cerebrospinal Fluid in Healthy Children Terminated NCT01698229

Search NIH Clinical Center for Adult Neuronal Ceroid Lipofuscinosis

Genetic Tests for Adult Neuronal Ceroid Lipofuscinosis

Genetic tests related to Adult Neuronal Ceroid Lipofuscinosis:

# Genetic test Affiliating Genes
1 Adult Neuronal Ceroid Lipofuscinosis 28 CLN6

Anatomical Context for Adult Neuronal Ceroid Lipofuscinosis

MalaCards organs/tissues related to Adult Neuronal Ceroid Lipofuscinosis:

38
Retina

Publications for Adult Neuronal Ceroid Lipofuscinosis

Articles related to Adult Neuronal Ceroid Lipofuscinosis:

(show all 23)
# Title Authors Year
1
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). ( 27412140 )
2016
2
Expression profile of a Caenorhabditis elegans model of adult neuronal ceroid lipofuscinosis reveals down regulation of ubiquitin E3 ligase components. ( 26395859 )
2015
3
Oligomerization of Cysteine String Protein alpha mutants causing adult neuronal ceroid lipofuscinosis. ( 25064588 )
2014
4
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. ( 22073189 )
2011
5
Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form. ( 21819394 )
2011
6
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis. ( 19699676 )
2009
7
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. ( 17261688 )
2007
8
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. ( 14655761 )
2003
9
Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. ( 12112194 )
2002
10
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). ( 11588995 )
2001
11
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. ( 11506414 )
2001
12
Adult neuronal ceroid lipofuscinosis (Kufs' disease) in two siblings of an Irish family. ( 14606583 )
2000
13
Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis. ( 9831759 )
1998
14
Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report. ( 9452242 )
1998
15
Diagnostic (clinical and morphological) criteria for adult neuronal ceroid-lipofuscinosis (Kufs' disease), HA'pital de la SalpActriA"re 'AFM Institut de Myologie', Paris, France, 5 December 1996. ( 9223136 )
1997
16
Adult neuronal ceroid-lipofuscinosis--personal observations. ( 9246375 )
1997
17
Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report. ( 8175244 )
1993
18
Pathoarchitectonic pattern of iso- and allocortical lesions in juvenile and adult neuronal ceroid-lipofuscinosis. ( 8411975 )
1993
19
Adult neuronal ceroid-lipofuscinosis. ( 2663281 )
1989
20
A case of adult neuronal ceroid-lipofuscinosis with the appearance of membranous cytoplasmic bodies localized in the spinal anterior horn. ( 3033977 )
1987
21
An autopsy case of adult neuronal ceroid lipofuscinosis. ( 3599568 )
1986
22
Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL). ( 7168921 )
1982
23
Adult neuronal ceroid lipofuscinosis (Kufs' disease). A sporadic case. ( 7302734 )
1981

Variations for Adult Neuronal Ceroid Lipofuscinosis

ClinVar genetic disease variations for Adult Neuronal Ceroid Lipofuscinosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLN6 NM_017882.2(CLN6): c.200T> C (p.Leu67Pro) single nucleotide variant Pathogenic rs154774633 GRCh37 Chromosome 15, 68506725: 68506725
2 CLN6 NM_017882.2(CLN6): c.308G> A (p.Arg103Gln) single nucleotide variant Pathogenic rs154774634 GRCh37 Chromosome 15, 68504191: 68504191
3 CLN6 NM_017882.2(CLN6): c.139C> T (p.Leu47Phe) single nucleotide variant Pathogenic rs154774635 GRCh37 Chromosome 15, 68510933: 68510933
4 CLN6 NM_017882.2(CLN6): c.17G> C (p.Arg6Thr) single nucleotide variant Pathogenic rs154774636 GRCh37 Chromosome 15, 68521906: 68521906

Expression for Adult Neuronal Ceroid Lipofuscinosis

Search GEO for disease gene expression data for Adult Neuronal Ceroid Lipofuscinosis.

Pathways for Adult Neuronal Ceroid Lipofuscinosis

Pathways related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 PPT1 PSAP TPP1

GO Terms for Adult Neuronal Ceroid Lipofuscinosis

Cellular components related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.72 DNAJC5 PDCD6IP PPT1 PSAP TPP1
2 mitochondrion GO:0005739 9.71 ATP5F1E DNAJC5 PSAP TPP1
3 synaptic vesicle GO:0008021 9.37 DNAJC5 PPT1
4 lysosome GO:0005764 9.33 PPT1 PSAP TPP1
5 azurophil granule membrane GO:0035577 9.26 DNAJC5 PSAP
6 melanosome GO:0042470 9.13 DNAJC5 PDCD6IP TPP1
7 lysosomal lumen GO:0043202 8.8 PPT1 PSAP TPP1

Biological processes related to Adult Neuronal Ceroid Lipofuscinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.37 DNAJC5 PPT1
2 protein catabolic process GO:0030163 9.33 CLN6 PPT1 TPP1
3 neurotransmitter secretion GO:0007269 9.32 DNAJC5 PPT1
4 lysosomal lumen acidification GO:0007042 9.26 CLN6 PPT1
5 cellular macromolecule catabolic process GO:0044265 8.96 CLN6 PPT1
6 lysosome organization GO:0007040 8.8 CLN6 PPT1 TPP1

Sources for Adult Neuronal Ceroid Lipofuscinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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