MCID: RRN010
MIFTS: 20

Rare Neurodegenerative Disease

Categories: Infectious diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Neurodegenerative Disease

MalaCards integrated aliases for Rare Neurodegenerative Disease:

Name: Rare Neurodegenerative Disease 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

UMLS via Orphanet 72 C0524851
Orphanet 58 ORPHA182070

Summaries for Rare Neurodegenerative Disease

MalaCards based summary : Rare Neurodegenerative Disease is related to spinal muscular atrophy with progressive myoclonic epilepsy and cerebral amyloid angiopathy, itm2b-related, 1. The drugs Rivastigmine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and t cells.

Related Diseases for Rare Neurodegenerative Disease

Graphical network of the top 20 diseases related to Rare Neurodegenerative Disease:



Diseases related to Rare Neurodegenerative Disease

Symptoms & Phenotypes for Rare Neurodegenerative Disease

Drugs & Therapeutics for Rare Neurodegenerative Disease

Drugs for Rare Neurodegenerative Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rivastigmine Approved, Investigational Phase 3 123441-03-2 77991
2 Neurotransmitter Agents Phase 3
3 Protective Agents Phase 3
4 Neuroprotective Agents Phase 3
5 Cholinergic Agents Phase 3
6 Cholinesterase Inhibitors Phase 3
7 Anti-Inflammatory Agents Phase 2
8 Anti-Inflammatory Agents, Non-Steroidal Phase 2
9 Analgesics, Non-Narcotic Phase 2
10 Pharmaceutical Solutions Phase 2
11 Antirheumatic Agents Phase 2
12 Analgesics Phase 2
13 RNS60 Phase 2
14
Nicotinamide Approved, Investigational 98-92-0 936
15
Deferiprone Approved 30652-11-0 2972
16
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
17
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
18
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
19
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
20 Trace Elements
21 Micronutrients
22 Vitamins
23 Hypolipidemic Agents
24 Vitamin B3
25 Nutrients
26 Vitamin B Complex
27 Vitamin B9
28 Folate
29 Antimetabolites
30 Lipid Regulating Agents
31 Vasodilator Agents
32 Nicotinic Acids
33 pyruvate
34 Chelating Agents
35 Iron Chelating Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 RIVA-PSP: Efficacy of Rivastigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy: A Randomised Double Blind Placebo-controlled Clinical Trial Unknown status NCT02839642 Phase 3 Rivastigmine;Placebo
2 Gut Microbiota Alteration and Improvement of Ataxia in Patients of Multiple System Atrophy Treating With Tllsh2910 - a Randomized, Placebo-controlled, Double-blinded, Cross-over, Single-center Clinical Trial Recruiting NCT03901638 Phase 3 Tllsh2910;Placebo
3 The Effect of RNS60 on ALS Biomarkers Recruiting NCT03456882 Phase 2 RNS60
4 Energy Metabolism in Neurodegenerative Diseases: A Randomized, Double Blind, Placebo-Controlled Clinical Pilot Trial of Pyruvate, Creatine, and Niacinamide in Progressive Supranuclear Palsy. Completed NCT00605930
5 Pathophysiology of Gait and Posture in Progressive Supranuclear Palsy Completed NCT04096651
6 Phase IV Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial Siderosis Completed NCT01284127
7 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
8 Differential Diagnosis Between Parkinson's Disease and Multiple System Atrophy Using Digital Speech Analysis Recruiting NCT03577483
9 Impact on Functional Status of Early Oral Nutritional Supplementation (ONS) in Amyotrophic Lateral Sclerosis (ALS) Patients Active, not recruiting NCT02152449
10 Cross-sectional Study of the Factors Determining the Quality of Life of the Patient and the Burden of the Caregiver in Progressive Supranuclear Palsy Not yet recruiting NCT03638505

Search NIH Clinical Center for Rare Neurodegenerative Disease

Genetic Tests for Rare Neurodegenerative Disease

Anatomical Context for Rare Neurodegenerative Disease

MalaCards organs/tissues related to Rare Neurodegenerative Disease:

40
Brain, Testes, T Cells, Endothelial

Publications for Rare Neurodegenerative Disease

Articles related to Rare Neurodegenerative Disease:

(show top 50) (show all 138)
# Title Authors PMID Year
1
Spatial Epidemiology of Sporadic Creutzfeldt-Jakob Disease in Apulia, Italy. 61
31563913 2020
2
Cockayne syndrome group A and B proteins function in rRNA transcription through nucleolin regulation. 61
31970402 2020
3
Complementary and alternative medicine for treating amyotrophic lateral sclerosis: A narrative review. 61
31692669 2019
4
Chorea-acanthocytosis: Time-dependent changes of symptoms and imaging findings. 61
31889551 2019
5
Drug reduces excess iron in ultra-rare neurodegenerative disease. 61
31263258 2019
6
[Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing]. 61
31506141 2019
7
The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration. 61
31055958 2019
8
Anesthetic management in corticobasal degeneration with central sleep apnea: A case report. 61
31501782 2019
9
Safety and efficacy of epigallocatechin gallate in multiple system atrophy (PROMESA): a randomised, double-blind, placebo-controlled trial. 61
31278067 2019
10
Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives. 61
31337416 2019
11
Safety of the tau-directed monoclonal antibody BIIB092 in progressive supranuclear palsy: a randomised, placebo-controlled, multiple ascending dose phase 1b trial. 61
31122495 2019
12
How do people with Motor Neurone Disease experience dysphagia? A qualitative investigation of personal experiences. 61
31248289 2019
13
Neuroimaging and clinical trials with stem cells in amyotrophic lateral sclerosis: present and future perspectives. 61
30606510 2019
14
Rare histotype of sporadic Creutzfeldt-Jakob disease, clinically suspected as corticobasal degeneration. 61
30850568 2019
15
VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation. 61
30709847 2019
16
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease. 61
30486714 2019
17
Corticobasal degeneration. 61
31779825 2019
18
Yeast-model-based study identified myosin- and calcium-dependent calmodulin signalling as a potential target for drug intervention in chorea-acanthocytosis. 61
30635263 2019
19
Assessment of Caregiver Burden in Huntington's Disease. 61
30594932 2019
20
Ophthalmic manifestations in patients with Leigh syndrome, French Canadian type. 61
30426811 2018
21
An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy. 61
30101925 2018
22
A long time radiological follow-up of neuronal intranuclear inclusion disease: Two case reports. 61
30544465 2018
23
Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis. 61
30243861 2018
24
[Superficial Siderosis]. 61
30287696 2018
25
Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia. 61
29492593 2018
26
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes. 61
29560583 2018
27
Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases. 61
30089514 2018
28
[Organic Anxiety Disorder in Posterior Cortical Atrophy]. 61
29665606 2018
29
Two novel mutations in the GAN gene causing giant axonal neuropathy. 61
29876741 2018
30
Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study. 61
29489040 2018
31
In vitro models of multiple system atrophy from primary cells to induced pluripotent stem cells. 61
29502349 2018
32
Feedback Facility-Assisted Balance Training in a Patient With Multiple System Atrophy: A Case Presentation. 61
28943458 2018
33
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. 61
29439846 2018
34
Microtubule defects in mesenchymal stromal cells distinguish patients with Progressive Supranuclear Palsy. 61
29502334 2018
35
Two-year observational study of deferiprone in superficial siderosis. 61
29285884 2018
36
Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia. 61
29441216 2018
37
Wolfram syndrome: MAMs' connection? 61
29511163 2018
38
Behavioral defects in a DCTN1G71A transgenic mouse model of Perry syndrome. 61
29273399 2018
39
The ceramide activated protein phosphatase Sit4 impairs sphingolipid dynamics, mitochondrial function and lifespan in a yeast model of Niemann-Pick type C1. 61
28988886 2018
40
Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments. 61
30619446 2018
41
Glutathione system in Wolfram syndrome 1‑deficient mice. 61
28901522 2017
42
Serum Metabolic Fingerprinting Identified Putatively Annotated Sphinganine Isomer as a Biomarker of Wolfram Syndrome. 61
28895401 2017
43
Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor. 61
29095329 2017
44
Critical appraisal of clinical trials in multiple system atrophy: Toward better quality. 61
28782838 2017
45
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration. 61
28542676 2017
46
Current issues in ALS epidemiology: Variation of ALS occurrence between populations and physical activity as a risk factor. 61
28477849 2017
47
Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis. 61
28199020 2017
48
MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17). 61
27905268 2017
49
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. 61
27890673 2017
50
Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. 61
27633805 2017

Variations for Rare Neurodegenerative Disease

Expression for Rare Neurodegenerative Disease

Search GEO for disease gene expression data for Rare Neurodegenerative Disease.

Pathways for Rare Neurodegenerative Disease

GO Terms for Rare Neurodegenerative Disease

Sources for Rare Neurodegenerative Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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