APAO
MCID: ATX038
MIFTS: 44

Ataxia and Polyneuropathy, Adult-Onset (APAO)

Categories: Genetic 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
Ataxia 43 39
Apao 73

Classifications:



External Ids:

OMIM 56 500010
ICD10 32 R27.0
MedGen 41 C1838916

Summaries for Ataxia and Polyneuropathy, Adult-Onset

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

MalaCards based summary : Ataxia and Polyneuropathy, Adult-Onset, also known as ataxia, is related to alacrima, achalasia, and mental retardation syndrome and friedreich ataxia. An important gene associated with Ataxia and Polyneuropathy, Adult-Onset is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6). The drugs Mecasermin and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include brain, breast and testes.

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 2086)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 29.5 GRIN2B EBF3
2 friedreich ataxia 12.8
3 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.8
4 ataxia-telangiectasia 12.8
5 spastic ataxia, charlevoix-saguenay type 12.7
6 episodic ataxia, type 2 12.7
7 autosomal dominant cerebellar ataxia 12.7
8 spinocerebellar ataxia 2 12.7
9 spinocerebellar ataxia 1 12.7
10 spinocerebellar ataxia 7 12.6
11 spinocerebellar ataxia, autosomal recessive 8 12.6
12 spinocerebellar ataxia 29 12.6
13 spinocerebellar ataxia 34 12.6
14 spinocerebellar ataxia 6 12.6
15 episodic ataxia, type 1 12.6
16 spinocerebellar ataxia 15 12.6
17 spinocerebellar ataxia 31 12.6
18 spinocerebellar ataxia 10 12.6
19 spinocerebellar ataxia 36 12.6
20 anemia, sideroblastic, and spinocerebellar ataxia 12.6
21 spinocerebellar ataxia 13 12.6
22 spinocerebellar ataxia, autosomal recessive 4 12.6
23 spinocerebellar ataxia 27 12.6
24 spinocerebellar ataxia 20 12.6
25 spinocerebellar ataxia 17 12.6
26 spinocerebellar ataxia 26 12.6
27 spinocerebellar ataxia 21 12.6
28 spinocerebellar ataxia 14 12.6
29 cerebellar ataxia, early-onset, with retained tendon reflexes 12.6
30 hereditary ataxia 12.6
31 spinocerebellar ataxia 23 12.6
32 spinocerebellar ataxia 12 12.6
33 spinocerebellar ataxia 8 12.6
34 spinocerebellar ataxia 28 12.6
35 spinocerebellar ataxia 11 12.6
36 spinocerebellar ataxia 5 12.5
37 spinocerebellar ataxia, autosomal recessive 7 12.5
38 posterior column ataxia with retinitis pigmentosa 12.5
39 spinocerebellar ataxia, autosomal recessive 3 12.5
40 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.5
41 spinocerebellar ataxia 38 12.5
42 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 12.5
43 spinocerebellar ataxia 18 12.5
44 cerebellar ataxia, nonprogressive, with mental retardation 12.5
45 cerebellar ataxia, cayman type 12.5
46 spinocerebellar ataxia, autosomal recessive 14 12.5
47 spinocerebellar ataxia, autosomal recessive 10 12.5
48 spinocerebellar ataxia 37 12.5
49 episodic ataxia 12.5
50 spinocerebellar ataxia 35 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 387)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mecasermin Approved, Investigational Phase 4 68562-41-4
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Citalopram Approved Phase 4 59729-33-8 2771
4
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
5
4-Aminopyridine Approved Phase 4 504-24-5 1727
6
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
7
Polyestradiol phosphate Approved Phase 4 28014-46-2
8
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
9
Chlordiazepoxide Approved, Illicit, Investigational Phase 4 58-25-3 2712
10
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
11
Metformin Approved Phase 4 657-24-9 14219 4091
12
leucovorin Approved Phase 4 58-05-9 6006 143
13
Phenylephrine Approved Phase 4 59-42-7 6041
14
Histamine Approved, Investigational Phase 4 51-45-6 774
15
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
16
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
17
Doxepin Approved, Investigational Phase 4 1668-19-5 667477 667468
18
Zolpidem Approved Phase 4 82626-48-0 5732
19
Promethazine Approved, Investigational Phase 4 60-87-7 4927
20
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
21
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
22
Topiramate Approved Phase 4 97240-79-4 5284627
23
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
24
Sulfamethoxazole Approved Phase 4 723-46-6 5329
25
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
26
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
27
Cefpirome Approved Phase 4 84957-29-9 5479539
28
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
29
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
30
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
31
Acetaminophen Approved Phase 4 103-90-2 1983
32
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
33
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
34
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
35
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
36
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
37 Antihypertensive Agents Phase 4
38 Estrogens Phase 4
39 Cholinergic Agents Phase 4
40 Serotonin Uptake Inhibitors Phase 4
41 Dopamine Uptake Inhibitors Phase 4
42 Cytochrome P-450 Enzyme Inhibitors Phase 4
43 Psychotropic Drugs Phase 4
44 Serotonin Agents Phase 4
45 Muscarinic Antagonists Phase 4
46 Antidepressive Agents Phase 4
47 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
48 Cholinergic Antagonists Phase 4
49 Parasympatholytics Phase 4
50 Analgesics Phase 4

Interventional clinical trials:

(show top 50) (show all 388)
# 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 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
9 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
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 Pilot and Feasibility Study to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Recruiting NCT02347111 Phase 4 Flecainide;Sotalol
16 Oral Gabapentin in Management of Chronic Pelvic Pain in Females: A Randomised Placebo-controlled Study. Unknown status NCT02918760 Phase 3 Gabapentin
17 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
18 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
19 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)]
20 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
21 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
22 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
23 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
24 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
25 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
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 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
28 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
29 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
30 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
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 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
33 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
34 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
35 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
36 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
37 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
38 A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
39 Diaphragmatic Breathing and Heart Rate Variability Training for Improving Hypertension in Fragile X Associated Tremor/Ataxia Completed NCT03816540 Phase 3
40 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
41 Comparison of Ivermectin Alone With Albendazole (ALB) Plus Ivermectin (IVM) in Their Efficacy Against Onchocerciasis Completed NCT03238131 Phase 3 Ivermectin;Albendazole
42 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
43 Effects of Oral Pregabalin Versus Placebo on Postoperative Pain and Morphine Consumption After Mastectomy Completed NCT01391858 Phase 3 lyrica
44 Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study Completed NCT02604186 Phase 2, Phase 3
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, Breast, Testes, Cerebellum, T Cells, Lung, 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. 61 56 6
18055910 2007
2
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. 61 56 6
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. 61 6
9568930 1998
5
Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation. 61 6
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
Clinical significance of Kelch-like protein 11 antibodies. 61
31953318 2020
12
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. 61
31827252 2020
13
EBV-directed viral-specific T-lymphocyte therapy for the treatment of EBV-driven lymphoma in two patients with primary immunodeficiency and DNA repair defects. 61
31850668 2020
14
The effect of inhibitors of phosphatidylinositol 3-kinase-related kinases on dibenzo[def,p]chrysene genotoxicity measured by γH2AX levels and neutral comet assay in HepG2 human hepatocellular cancer cells. 61
31838185 2020
15
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. 61
31571321 2020
16
DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility. 61
31729086 2020
17
Is the walk ratio a window to the cerebellum in multiple sclerosis? A structural magnetic resonance imaging study. 61
31696586 2020
18
Evaluation of the anti-conflict, reinforcing, and sedative effects of YT-III-31, a ligand functionally selective for α3 subunit-containing GABAA receptors. 61
31670615 2020
19
An analysis of the clinical and imaging features of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). 61
32000557 2020
20
The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2. 61
31868069 2020
21
Paraneoplastic cerebellar ataxia and antibodies to metabotropic glutamate receptor 2. 61
31826987 2020
22
Fragile X syndrome and associated disorders: Clinical aspects and pathology. 61
31927143 2020
23
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations. 61
31836334 2020
24
Acute cerebellar ataxia: a rare Toscana Virus (TOSV) meningoencephalitis complication. 61
31554442 2020
25
Cellular cytokine receptor signaling and ATM pathway intersections affect hepatic DNA repair. 61
31837586 2020
26
Pediatric whole body MRI detects causative ovarian teratoma in opsoclonus myoclonus syndrome. 61
31890069 2020
27
Acute metronidazole-induced neurotoxicity: an update on MRI findings. 61
31858989 2020
28
Epigenetic Signaling in Glia Controls Presynaptic Homeostatic Plasticity. 61
31810838 2020
29
One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2. 61
31812845 2020
30
Assessment of ventilatory function in patients with spinocerebellar ataxia type 2. 61
32022136 2020
31
The Relationships Between Ataxia and Cognition in Spinocerebellar Ataxia Type 2. 61
31637587 2020
32
Neurodevelopmental and Psychiatric Symptoms in Patients with a Cyst Compressing the Cerebellum: an Ongoing Enigma. 61
31321675 2020
33
Functional parameter measurements in children with ataxia telangiectasia. 61
31468510 2020
34
Recommendations for measuring whisker movements and locomotion in mice with sensory, motor and cognitive deficits. 61
31785300 2020
35
Mirtazapine for Sleep Disturbances in Angelman Syndrome: A retrospective chart review of eight pediatric cases. 61
32022663 2020
36
Phase I randomized single-blinded controlled study investigating the potential benefit of aerobic exercise in degenerative cerebellar disease. 61
32037861 2020
37
Teaching NeuroImages: The dentate sign in subacute cerebellar ataxia: Metronidazole neurotoxicity. 61
32033985 2020
38
Cerebellar Ataxia Caused by Type II Unipolar Brush Cell Dysfunction in the Asic5 Knockout Mouse. 61
32034189 2020
39
POLR3A-related spastic ataxia: new mutations and a look into the phenotype. 61
31637490 2020
40
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination. 61
31509304 2020
41
Cerebellum and cognition in Friedreich ataxia: a voxel-based morphometry and volumetric MRI study. 61
31641877 2020
42
Health-related quality of life and depressive symptoms in Friedreich ataxia. 61
31564022 2020
43
Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy. 61
31701351 2020
44
Electrophysiological evidence for limited progression of the proprioceptive impairment in Friedreich ataxia. 61
31839397 2020
45
Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective. 61
31709473 2020
46
Ataxia telangiectasia mutated interacts with Parkin and induces mitophagy independent of kinase activity. Evidence from mantle cell lymphoma. 61
32029507 2020
47
Correction of ATM mutations in iPS cells from two ataxia-telangiectasia patients restores DNA damage and oxidative stress responses. 61
32037450 2020
48
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. 61
32032630 2020
49
Cerebellar White Matter Damage Is Associated With Postural Sway Deficits in People With Multiple Sclerosis. 61
31465761 2020
50
Exploring the role of high-mobility group box 1 (HMGB1) protein in the pathogenesis of Huntington's disease. 61
32036391 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 GRIN2B NM_000834.4(GRIN2B):c.2084T>C (p.Ile695Thr)SNV Pathogenic 234790 rs876661219 12:13724825-13724825 12:13571891-13571891
2 MT-ATP6 NC_012920.1:m.8993T>CSNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993
3 EBF3 NM_001005463.3(EBF3):c.488G>T (p.Arg163Leu)SNV Pathogenic 268155 rs1057519389 10:131755588-131755588 10:129957324-129957324
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

Biological processes related to Ataxia and Polyneuropathy, Adult-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 8.62 MT-ATP6 GRIN2B

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
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