APAO
MCID: ATX038
MIFTS: 45

Ataxia and Polyneuropathy, Adult-Onset (APAO)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Ataxia and Polyneuropathy, Adult-Onset

MalaCards integrated aliases for Ataxia and Polyneuropathy, Adult-Onset:

Name: Ataxia and Polyneuropathy, Adult-Onset 56 73 6
Adult-Onset Ataxia and Polyneuropathy 12 15
Ataxia 43 39
Apao 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0111750
OMIM 56 500010
ICD10 32 R27.0
MedGen 41 C1838916

Summaries for Ataxia and Polyneuropathy, Adult-Onset

Disease Ontology : 12 A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has material basis in heteroplasmic mutation in the mitochondrial gene MTATP6.

MalaCards based summary : Ataxia and Polyneuropathy, Adult-Onset, also known as adult-onset ataxia and polyneuropathy, is related to friedreich ataxia and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia. An important gene associated with Ataxia and Polyneuropathy, Adult-Onset is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6). The drugs Estradiol and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cerebellum.

UniProtKB/Swiss-Prot : 73 Ataxia and polyneuropathy, adult-onset: A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria.

More information from OMIM: 500010

Related Diseases for Ataxia and Polyneuropathy, Adult-Onset

Diseases related to Ataxia and Polyneuropathy, Adult-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2102)
# Related Disease Score Top Affiliating Genes
1 friedreich ataxia 12.8
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.8
3 ataxia-telangiectasia 12.7
4 spastic ataxia, charlevoix-saguenay type 12.7
5 episodic ataxia, type 2 12.7
6 autosomal dominant cerebellar ataxia 12.7
7 spinocerebellar ataxia 2 12.7
8 spinocerebellar ataxia 1 12.7
9 spinocerebellar ataxia, autosomal recessive 8 12.6
10 spinocerebellar ataxia 7 12.6
11 spinocerebellar ataxia 29 12.6
12 spinocerebellar ataxia 34 12.6
13 spinocerebellar ataxia 6 12.6
14 episodic ataxia, type 1 12.6
15 spinocerebellar ataxia 15 12.6
16 spinocerebellar ataxia 36 12.6
17 spinocerebellar ataxia 31 12.6
18 anemia, sideroblastic, and spinocerebellar ataxia 12.6
19 spinocerebellar ataxia 10 12.6
20 spinocerebellar ataxia, autosomal recessive 4 12.6
21 spinocerebellar ataxia 13 12.6
22 spinocerebellar ataxia 27 12.6
23 spinocerebellar ataxia 20 12.6
24 spinocerebellar ataxia 26 12.6
25 spinocerebellar ataxia 17 12.6
26 hereditary ataxia 12.6
27 spinocerebellar ataxia 21 12.6
28 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.6
29 spinocerebellar ataxia 14 12.6
30 spinocerebellar ataxia 23 12.6
31 spinocerebellar ataxia 12 12.6
32 spinocerebellar ataxia 28 12.6
33 spinocerebellar ataxia, autosomal recessive 7 12.6
34 spinocerebellar ataxia 8 12.6
35 spinocerebellar ataxia, autosomal recessive 14 12.6
36 spinocerebellar ataxia 11 12.6
37 spinocerebellar ataxia, autosomal recessive 3 12.6
38 spinocerebellar ataxia 5 12.5
39 posterior column ataxia with retinitis pigmentosa 12.5
40 spinocerebellar ataxia 38 12.5
41 cerebellar ataxia, early-onset, with retained tendon reflexes 12.5
42 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 12.5
43 spinocerebellar ataxia, x-linked 1 12.5
44 cerebellar ataxia, nonprogressive, with mental retardation 12.5
45 spinocerebellar ataxia 18 12.5
46 spinocerebellar ataxia 4 12.5
47 cerebellar ataxia, cayman type 12.5
48 episodic ataxia 12.5
49 spinocerebellar ataxia, autosomal recessive 10 12.5
50 spinocerebellar ataxia, autosomal recessive 12 12.5

Graphical network of the top 20 diseases related to Ataxia and Polyneuropathy, Adult-Onset:



Diseases related to Ataxia and Polyneuropathy, Adult-Onset

Symptoms & Phenotypes for Ataxia and Polyneuropathy, Adult-Onset

Clinical features from OMIM:

500010

Drugs & Therapeutics for Ataxia and Polyneuropathy, Adult-Onset

Drugs for Ataxia and Polyneuropathy, Adult-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 363)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Citalopram Approved Phase 4 59729-33-8 2771
5
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
6
4-Aminopyridine Approved Phase 4 504-24-5 1727
7
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
8
Chlordiazepoxide Approved, Illicit, Investigational Phase 4 58-25-3 2712
9
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
10
Metformin Approved Phase 4 657-24-9 14219 4091
11
leucovorin Approved Phase 4 58-05-9 6006 143
12
Promethazine Approved, Investigational Phase 4 60-87-7 4927
13
Phenylephrine Approved Phase 4 59-42-7 6041
14
Doxepin Approved, Investigational Phase 4 1668-19-5 667477 667468
15
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
16
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
17
Zolpidem Approved Phase 4 82626-48-0 5732
18
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
19
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
20
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
21
Sulfamethoxazole Approved Phase 4 723-46-6 5329
22
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
23
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
24
Topiramate Approved Phase 4 97240-79-4 5284627
25
Cefpirome Approved Phase 4 84957-29-9 5479539
26
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
27
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
28
Acetaminophen Approved Phase 4 103-90-2 1983
29
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
30
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
31
Sotalol Approved Phase 4 3930-20-9, 959-24-0 5253
32
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
33 Antihypertensive Agents Phase 4
34 Estradiol 17 beta-cypionate Phase 4
35 Estradiol 3-benzoate Phase 4
36 Contraceptive Agents Phase 4
37 Estrogens Phase 4
38 Cholinergic Agents Phase 4
39 Cytochrome P-450 Enzyme Inhibitors Phase 4
40 Antidepressive Agents Phase 4
41 Parasympatholytics Phase 4
42 Psychotropic Drugs Phase 4
43 Serotonin Uptake Inhibitors Phase 4
44 Muscarinic Antagonists Phase 4
45 Cholinergic Antagonists Phase 4
46 Analgesics Phase 4
47 GABA Agonists Phase 4
48 Potassium Channel Blockers Phase 4
49 Vitamin B Complex Phase 4
50 Folate Phase 4

Interventional clinical trials:

(show top 50) (show all 421)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4 bupropion & Citalopram;Bupropion & Placebo;Placebo & Citalopram;Placebo & Placebo
3 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
4 Comparison of Chlordiazepoxide and Gabapentin for Outpatient Alcohol Detoxification Treatment Completed NCT01573052 Phase 4 Chlordiazepoxide;Gabapentin
5 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
6 Phase IV 4 Way Crossover Study to Assess and Compare the Effect of a Single Nighttime Administration of Zolpidem, Silenor and Placebo on Arousability, Ataxia/Balance and Cognitive Performance in Healthy Volunteers. Completed NCT02353299 Phase 4 Silenor 6 mg;zolpidem 10 mg;Placebo;Placebo
7 Is Atropine Needed With Ketamine Sedation? Completed NCT00834470 Phase 4 Atropine
8 Pyrimethamine Plus Sulfadiazine Versus Trimethoprim Plus Sulfamethoxazole for Treatment of Toxoplasmic Encephalitis in AIDS Patients: A Randomized Controlled Trial. Completed NCT00367081 Phase 4 TMX-SMX (Bactrim(R));Pyrimethamine plus Sulfadiazine plus leucoverin
9 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Determine the Effacy and Safety of Topiramate in Subjects With Restless Legs Syndrome (RLS) Completed NCT00200941 Phase 4 Topiramate
10 Plasma and Abscess Fluid Pharmacokinetics of Cefpirome and Moxifloxacin After Single and Multiple Dose Administration Completed NCT00280514 Phase 4 cefpirome and moxifloxacin administration
11 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin on Post-operative Opioid Use and Patient Satisfaction Completed NCT01977937 Phase 4 Gabapentin 250mg/5mL NDC:59762-5025-01;Simple Syrup
12 A Phase IV Double Blind, Randomized, Placebo Controlled, Crossover Study of the Effectiveness of Oral Fampridine in Improving Upper Limb Function in Progressive Multiple Sclerosis Completed NCT02208050 Phase 4 Fampridine;Placebo
13 Does Postoperative Gabapentin Reduce Pain, Opioid Consumption & Anxiety & Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? Completed NCT00982800 Phase 4 Gabapentin;Placebo Sugar Pill
14 Multicenter, Randomized, Double-blind, Placebo-controlled, Phase IV Clinical Trial to Evaluate and Compare the Safety and Efficacy of C-Trelin OD Tab 5mg(Taltirelin Hydrate) in Patients With Ataxia Induced by Spinocerebellar Degeneration Recruiting NCT04107740 Phase 4 C-Trelin OD Tab(5mg Taltirelin Hydrate);Placebo
15 A Prospective, Multi-Center, Randomized, Open Label Trial to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Not yet recruiting NCT02347111 Phase 4 Flecainide;Sotalol
16 A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone Unknown status NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
17 Oral Gabapentin in Management of Chronic Pelvic Pain in Females: A Randomised Placebo-controlled Study. Unknown status NCT02918760 Phase 3 Gabapentin
18 Evaluate the Long-term (3 Months) Efficacy of L-threo DOPS (DroxiDopa) on Orthostatic Hypotension Symptoms and Other Non-motor Symptoms in Patients With Multiple System Atrophy (MSA). Comparative Study Versus Placebo Unknown status NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
19 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
20 A Prospective Randomized Comparison of Idarubicin and High-dose Daunorubicin in Combination With Cytarabine in the Induction Chemotherapy for Acute Myeloid Leukemia Unknown status NCT01145846 Phase 3 Cytarabine plus Daunorubicin [Arm II (AD regimen)]
21 Phase III Clinical Trial: "Evaluation of the Combination of TRANSKRIP ® Plus Carboplatin and Paclitaxel as First Line Chemotherapy on Survival of Patients With Recurrent - Persistent Cervical Cancer Unknown status NCT02446652 Phase 3 Hydralazine/Magnesium;Placebo;Carboplatin;Paclitaxel
22 A Phase III Open-Label, Single Group Extension Study of the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
23 A Phase III Open-Label, Single-Group, Extension Study to Obtain Long-Term Safety and Tolerability Data of Idebenone in the Treatment of Friedreich's Ataxia Patients. Completed NCT00993967 Phase 3 idebenone
24 A Phase III Double-Blind, Randomized, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
25 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
26 A Phase IIIb Double-Blind, Randomised, Placebo-Controlled Study of Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone Completed NCT01303406 Phase 3 Idebenone;Placebo
27 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
28 A Phase III Double-blind, Randomised, Placebo-controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00905268 Phase 3 idebenone;Placebo
29 Randomized, Multicenter, Double-Blind, Placebo-Controlled, Efficacy, Safety, and Pharmacokinetic Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
30 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
31 Multicenter, Safety and Efficacy, Open-Label Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02593773 Phase 3 Interferon γ-1b
32 Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02797080 Phase 3 interferon γ-1b
33 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
34 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
35 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
36 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
37 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
38 A Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3 KPS-0373, High dose;KPS-0373, Low dose;Placebo
39 A Single-centre Phase III Clinical Trial for Vero Cell-derived Inactivated Japanese Encephalitis Vaccine Produced by Shandong Hengye Biotech Co., Ltd. in Healthy Chinese Infants Aged 6-11 Months, Aimed to Evaluate Immunogenicity and Safety Completed NCT02367664 Phase 3
40 Diaphragmatic Breathing and Heart Rate Variability Training for Improving Hypertension in Fragile X Associated Tremor/Ataxia Completed NCT03816540 Phase 3
41 Efficacy and Safety of the Iron Chelator Deferiprone on Iron Overload in the Brain in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
42 Comparison of Ivermectin Alone With Albendazole (ALB) Plus Ivermectin (IVM) in Their Efficacy Against Onchocerciasis Completed NCT03238131 Phase 3 Ivermectin;Albendazole
43 Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study Completed NCT02604186 Phase 2, Phase 3
44 Effects of Oral Pregabalin Versus Placebo on Postoperative Pain and Morphine Consumption After Mastectomy Completed NCT01391858 Phase 3 lyrica
45 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Recruiting NCT03701399 Phase 3 troriluzole;Placebos
46 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
47 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Recruiting NCT03347344 Phase 3 Riluzole;Placebo
48 A Randomized, Double-Blind, Controlled, Phase 2/3 Study to Assess Efficacy, Long Term Safety and Tolerability of RT001 in Subjects With Friedreich's Ataxia Recruiting NCT04102501 Phase 3 RT001;Placebo
49 Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Recruiting NCT03563053 Phase 3
50 Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate on Neurological Symptoms in Patients With Ataxia Telangiectasia Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo

Search NIH Clinical Center for Ataxia and Polyneuropathy, Adult-Onset

Cochrane evidence based reviews: ataxia

Genetic Tests for Ataxia and Polyneuropathy, Adult-Onset

Anatomical Context for Ataxia and Polyneuropathy, Adult-Onset

MalaCards organs/tissues related to Ataxia and Polyneuropathy, Adult-Onset:

40
Brain, Testes, Cerebellum, Breast, Lung, Spinal Cord, Eye

Publications for Ataxia and Polyneuropathy, Adult-Onset

Articles related to Ataxia and Polyneuropathy, Adult-Onset:

(show top 50) (show all 30005)
# Title Authors PMID Year
1
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. 56 6 61
18055910 2007
2
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. 56 6 61
16049925 2005
3
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 61 6
24418350 2014
4
Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome. 6 61
9568930 1998
5
Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation. 6 61
8644724 1996
6
Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation. 6
11916326 2001
7
A family with Leigh syndrome caused by the rarer T8993C mutation. 6
9762610 1998
8
Leigh syndrome: clinical features and biochemical and DNA abnormalities. 6
8602753 1996
9
Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation. 6
8750605 1995
10
Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain. 6
3612192 1987
11
Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing. 61
32539308 2020
12
Injury of the dentatorubrothalamic tract in patients with post-traumatic tremor following mild traumatic brain injury: a case-control study. 61
32394963 2020
13
miR-26a attenuates cardiac apoptosis and fibrosis by targeting ataxia-telangiectasia mutated in myocardial infarction. 61
31990056 2020
14
Treatment and revaccination of children with paraneoplastic opsoclonus-myoclonus-ataxia syndrome and neuroblastoma: The Memorial Sloan Kettering experience. 61
32543116 2020
15
Expression and purification of the heme exporter FLVCR1a. 61
32278001 2020
16
NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor. 61
32485575 2020
17
CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort. 61
32339968 2020
18
ATM suppresses leaf senescence triggered by DNA double-strand break through epigenetic control of senescence-associated genes in Arabidopsis. 61
32163596 2020
19
A Dual Role of ATM in Ischemic Preconditioning and Ischemic Injury. 61
31845160 2020
20
A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation. 61
32167997 2020
21
Behavioural and histological changes in cuprizone-fed mice. 61
32014578 2020
22
CLIPPERS, a syndrome of lymphohistiocytic disorders. 61
32234602 2020
23
Use of percutaneous transvenous coil embolization in the treatment of intrahepatic portosystemic shunts in four cats. 61
32538708 2020
24
Paraneoplastic cerebellar degeneration in a patient with breast cancer associated with carbonic anhydrase-related protein VIII autoantibodies. 61
32325285 2020
25
The Bruton tyrosine kinase inhibitor ibrutinib improves anti-MAG antibody polyneuropathy. 61
32284437 2020
26
18F-FDG PET/CT in Sporadic Creutzfeldt-Jakob Disease. 61
32433176 2020
27
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 61
32219868 2020
28
Intracerebral hematoma at the basal ganglia following lumbar puncture. 61
32389558 2020
29
A recessive Trim2 mutation causes an axonal neuropathy in mice. 61
32205255 2020
30
Diagnostic and therapeutic aspects of hemiplegic migraine. 61
32430436 2020
31
Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation. 61
32408088 2020
32
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. 61
32407885 2020
33
Two neurologic facets of CTLA4-related haploinsufficiency. 61
32499327 2020
34
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases. 61
32339621 2020
35
Long-term follow-up in infantile-onset SCAR18: A case report. 61
32387255 2020
36
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype. 61
32319736 2020
37
It is not your eyes. 61
31009615 2020
38
Surgical Treatment of Suspected Meningioangiomatosis in the Thoracolumbar Spinal Cord. 61
32412338 2020
39
Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly. 61
32577562 2020
40
Angelman syndrome: a journey through the brain. 61
32087041 2020
41
Trehalose in Machado-Joseph Disease: Safety, Tolerability, and Efficacy. 61
32514820 2020
42
Neuromelanin imaging analyses of the substantia nigra in patients with Machado-Joseph disease. 61
32556403 2020
43
Mesenchymal stem cell-derived exosomes improve motor function and attenuate neuropathology in a mouse model of Machado-Joseph disease. 61
32513306 2020
44
A 5-Year Longitudinal Clinical and Magnetic Resonance Imaging Study in Spinocerebellar Ataxia Type 3. 61
32515873 2020
45
Spinocerebellar Ataxia Type 3: A Case Report and Literature Review. 61
32346735 2020
46
Intronic pentanucleotide expansion in the replication factor 1 gene (RFC1) is a major cause of adult-onset ataxia. 61
32548277 2020
47
Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. 61
32548430 2020
48
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. 61
32428197 2020
49
A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients. 61
32291635 2020
50
Progress towards drug discovery for Friedreich's Ataxia: Identifying synthetic oligonucleotides that more potently activate expression of human frataxin protein. 61
32279920 2020

Variations for Ataxia and Polyneuropathy, Adult-Onset

ClinVar genetic disease variations for Ataxia and Polyneuropathy, Adult-Onset:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EBF3 NM_001005463.3(EBF3):c.488G>T (p.Arg163Leu)SNV Pathogenic 268155 rs1057519389 10:131755588-131755588 10:129957324-129957324
2 MT-ATP6 NC_012920.1:m.8993T>CSNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993
3 GRIN2B NM_000834.4(GRIN2B):c.2084T>C (p.Ile695Thr)SNV Pathogenic/Likely pathogenic 234790 rs876661219 12:13724825-13724825 12:13571891-13571891
4 EBF3 NM_001005463.3(EBF3):c.488G>A (p.Arg163Gln)SNV Pathogenic/Likely pathogenic 268156 rs1057519389 10:131755588-131755588 10:129957324-129957324
5 GRIN2B NM_000834.4(GRIN2B):c.2116A>G (p.Met706Val)SNV Likely pathogenic 374226 rs1057518988 12:13724793-13724793 12:13571859-13571859
6 MT-ND4 NC_012920.1:m.11896C>GSNV Uncertain significance 370054 rs1057516065 MT:11896-11896 MT:11896-11896
7 MT-CYB NC_012920.1:m.15127C>TSNV Uncertain significance 370064 rs1057516074 MT:15127-15127 MT:15127-15127
8 DNMT1 NM_001130823.3(DNMT1):c.391C>T (p.Pro131Ser)SNV Uncertain significance 373918 rs1057518769 19:10291080-10291080 19:10180404-10180404

UniProtKB/Swiss-Prot genetic disease variations for Ataxia and Polyneuropathy, Adult-Onset:

73
# Symbol AA change Variation ID SNP ID
1 MT-ATP6 p.Leu156Pro VAR_000794 rs199476133

Expression for Ataxia and Polyneuropathy, Adult-Onset

Search GEO for disease gene expression data for Ataxia and Polyneuropathy, Adult-Onset.

Pathways for Ataxia and Polyneuropathy, Adult-Onset

GO Terms for Ataxia and Polyneuropathy, Adult-Onset

Sources for Ataxia and Polyneuropathy, Adult-Onset

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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