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MCID: MVM001
MIFTS: 63

Movement Disease

Categories: Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Movement Disease

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MalaCards integrated aliases for Movement Disease:

Name: Movement Disease 12 15
Movement Disorders 54 42 43 71
Movement Disorder 29 6 15 17

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:480
MeSH 43 D009069
NCIt 49 C116757
SNOMED-CT 67 60342002
UMLS 71 C0026650
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Summaries for Movement Disease

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MedlinePlus : 42 Movement disorders are neurologic conditions that cause problems with movement, such as Increased movement that can be voluntary (intentional) or involuntary (unintended) Decreased or slow voluntary movement There are many different movement disorders. Some of the more common types include Ataxia, the loss of muscle coordination Dystonia, in which involuntary contractions of your muscles cause twisting and repetitive movements. The movements can be painful. Huntington's disease, an inherited disease that causes nerve cells in certain parts of the brain to waste away. This includes the nerve cells that help to control voluntary movement. Parkinson's disease, which is disorder that slowly gets worse over time. It causes tremors, slowness of movement, and trouble walking. Tourette syndrome, a condition which causes people to make sudden twitches, movements, or sounds (tics) Tremor and essential tremor, which cause involuntary trembling or shaking movements. The movements may be in one or more parts of your body. Causes of movement disorders include Genetics Infections Medicines Damage to the brain, spinal cord, or peripheral nerves Metabolic disorders Stroke and vascular diseases Toxins Treatment varies by disorder. Medicines can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.

MalaCards based summary : Movement Disease, also known as movement disorders, is related to rare movement disorder and dystonia 1, torsion, autosomal dominant, and has symptoms including seizures, ataxia and myoclonus. An important gene associated with Movement Disease is GNAO1 (G Protein Subunit Alpha O1), and among its related pathways/superpathways are Parkinson disease and Circadian entrainment. The drugs Trimetazidine and Olanzapine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related phenotypes are behavior/neurological and homeostasis/metabolism

Disease Ontology : 12 A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.

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Related Diseases for Movement Disease

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Diseases in the Movement Disease family:

Rare Movement Disorder

Diseases related to Movement Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 886)
# Related Disease Score Top Affiliating Genes
1 rare movement disorder 34.6 GNAO1 GBA
2 dystonia 1, torsion, autosomal dominant 33.3 TOR1A SGCE GCH1
3 essential tremor 33.3 SNCA SLC6A3 PRKN MAPT LRRK2 GBA
4 dystonia 11, myoclonic 33.3 TOR1A SGCE PANK2 GCH1 DRD2 ATP1A3
5 blepharospasm 33.1 TOR1A SGCE PANK2 GCH1 ATP1A3
6 tremor 33.1 SNCA PRKN MAPT LRRK2 GBA FMR1
7 cervical dystonia 33.1 TOR1A TH SGCE GCH1 ATP1A3
8 dystonia 3, torsion, x-linked 33.0 TOR1A SGCE GCH1 ATP1A3
9 dystonia 12 32.9 TOR1A SNCA SGCE PRKN PINK1 PARK7
10 dystonia 32.9 TOR1A TH SLC6A3 SGCE PRKN PINK1
11 tardive dyskinesia 32.9 DRD3 DRD2
12 neurodegeneration with brain iron accumulation 32.8 TOR1A SNCA SLC6A3 PRKN PINK1 PARK7
13 parkinson disease, late-onset 32.6 TOR1A TH SNCA SLC6A3 PRKN PINK1
14 restless legs syndrome 32.6 TH SNCA SLC6A3 PRKN MAPT FMR1
15 cerebellar disease 32.5 SNCA FMR1 ATP1A3
16 3-methylglutaconic aciduria, type iii 32.5 SNCA PINK1 PARK7 LRRK2 ATP1A3
17 dementia, lewy body 32.2 TH SNCA SLC6A3 PRKN PINK1 PARK7
18 oromandibular dystonia 32.0 TOR1A SGCE PANK2 GCH1 ATP1A3
19 lingual-facial-buccal dyskinesia 32.0 SLC6A3 PANK2 GNAO1 DRD3 DRD2
20 tic disorder 32.0 SLC6A3 DRD3 DRD2
21 lymphatic malformation 5 31.9 TOR1A SGCE GCH1
22 isolated dystonia 31.9 TOR1A GCH1
23 choreatic disease 31.9 SGCE PANK2 HTT GNAO1 GCH1 DRD3
24 dystonia, dopa-responsive 31.9 TOR1A TH SLC6A3 SGCE GCH1 ATP1A3
25 multiple system atrophy 1 31.8 TH SNCA SLC6A3 PRKN PARK7 MAPT
26 huntington disease 31.8 TH SNCA SLC6A3 MAPT HTT DRD2
27 postencephalitic parkinson disease 31.7 TH SNCA SLC6A3 PRKN PINK1 PARK7
28 striatonigral degeneration 31.7 TH SNCA SLC6A3 DRD2
29 gilles de la tourette syndrome 31.6 TH SLC6A3 SGCE DRD3 DRD2
30 supranuclear palsy, progressive, 1 31.6 TH SNCA SLC6A3 PRKN PINK1 PARK7
31 sleep disorder 31.6 TH SNCA SLC6A3 MAPT LRRK2 DRD2
32 corticobasal degeneration 31.6 MAPT LRRK2 GBA
33 segawa syndrome, autosomal recessive 31.5 TH GCH1
34 kufor-rakeb syndrome 31.5 SNCA SLC6A3 PRKN PINK1 PARK7 PANK2
35 focal dystonia 31.4 TOR1A SGCE PRKN PANK2 GCH1 DRD2
36 obsessive-compulsive disorder 31.3 TOR1A SLC6A3 SGCE GCH1 DRD3 DRD2
37 hemidystonia 31.3 TOR1A SGCE GCH1 DRD2 ATP1A3
38 spasmodic dystonia 31.3 TOR1A SGCE GCH1 ATP1A3
39 hereditary dystonia 31.2 TH GCH1 ATP1A3
40 segmental dystonia 31.1 TOR1A SGCE GCH1 ATP1A3
41 hereditary late-onset parkinson disease 31.1 SNCA LRRK2 GBA
42 von economo's disease 31.1 SNCA SLC6A3 LRRK2
43 attention deficit-hyperactivity disorder 31.1 TH SNCA SLC6A3 PRKN PINK1 FMR1
44 psychotic disorder 31.1 TH SLC6A3 DRD3 DRD2
45 autosomal dominant cerebellar ataxia 31.1 SNCA PRKN PINK1 MAPT LRRK2 HTT
46 parkinson disease 4, autosomal dominant 31.0 TH SNCA SLC6A3
47 rem sleep behavior disorder 31.0 SNCA SLC6A3 PRKN PINK1 MAPT LRRK2
48 rett syndrome 31.0 TH PRKN HTT GAMT DRD2
49 machado-joseph disease 31.0 SNCA SLC6A3 PRKN HTT
50 parkinson disease 2, autosomal recessive juvenile 31.0 SNCA PRKN PINK1 PARK7 LRRK2

Graphical network of the top 20 diseases related to Movement Disease:



Diseases related to Movement Disease
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Symptoms & Phenotypes for Movement Disease

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UMLS symptoms related to Movement Disease:


seizures, ataxia, myoclonus, tremor, back pain, involuntary movements, dystonia, headache, torticollis, clumsiness, syncope, athetosis, cogwheel rigidity, pain, pseudobulbar signs, myokymia, muscle fibrillation, chronic pain, sciatica, asterixis, vertigo/dizziness, sleeplessness, muscle cramp, symptoms, spasm, spasmodic torticollis, hyperexplexia, akathisia, leg cramps

MGI Mouse Phenotypes related to Movement Disease:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.54 ATP1A3 DRD2 DRD3 FMR1 GAMT GBA
2 homeostasis/metabolism MP:0005376 10.47 ATP1A3 DRD2 DRD3 GAMT GBA GCH1
3 growth/size/body region MP:0005378 10.46 ATP1A3 DRD2 DRD3 FMR1 GAMT GBA
4 cellular MP:0005384 10.44 DRD2 FMR1 GAMT GBA HTT LRRK2
5 cardiovascular system MP:0005385 10.36 DRD2 DRD3 GBA GCH1 GNAO1 HTT
6 mortality/aging MP:0010768 10.36 ATP1A3 DRD2 DRD3 GAMT GBA GCH1
7 nervous system MP:0003631 10.35 ATP1A3 DRD2 DRD3 FMR1 GBA GCH1
8 endocrine/exocrine gland MP:0005379 10.3 DRD2 FMR1 GAMT GBA GNAO1 HTT
9 integument MP:0010771 10.23 ATP1A3 DRD2 FMR1 GBA GNAO1 HTT
10 immune system MP:0005387 10.22 ATP1A3 DRD2 GBA HTT LRRK2 MAPT
11 muscle MP:0005369 10.01 ATP1A3 DRD2 MAPT PANK2 PRKN SGCE
12 normal MP:0002873 9.96 DRD2 GBA HTT LRRK2 MAPT PRKN
13 no phenotypic analysis MP:0003012 9.92 DRD2 HTT LRRK2 MAPT PINK1 PRKN
14 renal/urinary system MP:0005367 9.7 DRD2 DRD3 GAMT LRRK2 MAPT PANK2
15 skeleton MP:0005390 9.61 DRD2 GBA GNAO1 HTT LRRK2 PINK1
16 taste/olfaction MP:0005394 9.1 DRD2 HTT MAPT PINK1 SLC6A3 SNCA
Sources

Drugs & Therapeutics for Movement Disease

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

(show top 50) (show all 286)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trimetazidine Approved, Investigational Phase 4 5011-34-7
2
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Memantine Approved, Investigational Phase 4 19982-08-2 4054
5
Amantadine Approved Phase 4 768-94-5 2130
6
Propranolol Approved, Investigational Phase 4 525-66-6 4946
7
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 497540 5095
8
Rasagiline Approved Phase 4 136236-51-6 3052776
9
Pramipexole Approved, Investigational Phase 4 104632-26-0 119570 59868
10
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
11
Amisulpride Approved, Investigational Phase 4 53583-79-2, 71675-85-9 2159
12
Ziprasidone Approved Phase 4 146939-27-7 60854
13
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
14
Histamine Approved, Investigational Phase 4 51-45-6 774
15
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
16
Clozapine Approved Phase 4 5786-21-0 2818
17
Remifentanil Approved Phase 4 132875-61-7 60815
18
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
19
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
20
Vortioxetine Approved, Investigational Phase 4 508233-74-7 9966051
21
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
22
Galantamine Approved Phase 4 357-70-0 9651
23
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
24
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
25
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
26
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
28 Carbidopa, levodopa drug combination Phase 4
29 Dopamine Agents Phase 4
30 Gastrointestinal Agents Phase 4
31 Quetiapine Fumarate Phase 4 111974-72-2
32 Antiemetics Phase 4
33 Neurotransmitter Agents Phase 4
34 Excitatory Amino Acid Antagonists Phase 4
35 Antiparkinson Agents Phase 4
36 Dopamine agonists Phase 4
37 Anti-Infective Agents Phase 4
38 Antiviral Agents Phase 4
39 Adrenergic beta-Antagonists Phase 4
40 Neuroprotective Agents Phase 4
41 Protective Agents Phase 4
42 incobotulinumtoxinA Phase 4
43 Anti-Arrhythmia Agents Phase 4
44 Whey Protein Phase 4
45 Soy Bean Phase 4
46 Antihypertensive Agents Phase 4
47 Adrenergic Antagonists Phase 4
48 Vasodilator Agents Phase 4
49 Monoamine Oxidase Inhibitors Phase 4
50 Antioxidants Phase 4

Interventional clinical trials:

(show top 50) (show all 655)
# Name Status NCT ID Phase Drugs
1 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
2 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease: A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Over 3 Months Unknown status NCT00696215 Phase 4 placebo;rasagiline
3 Effects of Botulinum Toxin Type A(Meditoxin®) on Sleep Bruxism by Different Injection Sites Evaluated by Polysomnography Unknown status NCT01336439 Phase 4 Botulinum toxin type A (Meditoxin®)
4 Pilot Study: The Effect of Rozerem on Sleep Disturbance After Traumatic Brain Injury Unknown status NCT01207050 Phase 4 Ramelteon
5 Comparison of Cognitive Functions of Schizophrenic Patients Treated With Sertindole Versus Risperidone Unknown status NCT00480844 Phase 4 Sertindole;Risperidone
6 The Study to Assess the Effect of Trimetazidine on Index of Microcirculatory Resistance (IMR), Measured by Coronary Pressure and Temperature Wire, in Patients With Stable Coronary Artery Disease Unknown status NCT02107144 Phase 4 trimetazidine
7 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
8 Synergistic Effects of Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
9 A Pilot Clinical Trial of Memantine for Essential Tremor Completed NCT00439699 Phase 4 Memantine
10 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
11 A Multicentre, Randomised, Open Label, Comparative Phase 4 Trial to Assess Changes in Clinical Management After DaTSCAN Imaging of Subjects With Clinically Uncertain Parkinsonism in a General Neurologist Setting. Completed NCT00382967 Phase 4
12 A Pilot Study of Vitamin D Supplementation in Bronx Psychiatric Patients Completed NCT01169142 Phase 4
13 Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson's Disease: Changes in Biomarkers of Oxidative Stress, Profiles of Plasma Amino Acids and Their Derivatives and Brain Function Completed NCT01662414 Phase 4
14 Investigation of the Use of Remote Presence Robots in the Administration of Neuromodulation Treatment Completed NCT01283633 Phase 4
15 A Randomised Placebo-controlled Trial of Rasagiline in Parkinson Disease Patients With Symptoms of Apathy Completed NCT00755027 Phase 4 Rasagiline
16 Tardive Dyskinesia and Cognitive Function Completed NCT00926965 Phase 4 amisulpride;Olanzapine;Conventional antipsychotics
17 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 Phase 4
18 Treatment of Tardive Dyskinesia With Galantamine Completed NCT00164242 Phase 4 Galantamine
19 An Open-Label, Non-Inferiority Study Evaluating the Efficacy and Safety of Two Injection Schedules of Xeomin® (incobotulinumtoxinA) [Short Flex Versus Long Flex] in Subjects With Cervical Dystonia With < 10 Weeks of Benefit From OnabotulinumtoxinA Treatment Completed NCT01486264 Phase 4
20 Evaluation of Efficacy and Tolerability of Switching to Ziprasidone From Other Antipsychotic Medications Completed NCT00458211 Phase 4 ziprasidone
21 Pre-injection, Multi-channel EMG Mapping to Optimize Botulinum Toxin Type A Efficacy in Cervical Dystonia. Completed NCT00773253 Phase 4 Botulinum toxin A
22 Effects of Risperdal Consta Versus Oral Antipsychotic Medication on Clinical and Functional Outcome and Neurocognition in First-episode Schizophrenia Completed NCT00330551 Phase 4 Oral Risperidone;Risperidone in Long-Acting Injectable Form (Consta)
23 Randomized Comparison of Monotherapy (Risperidone, Quetiapine, or Olanzapine) Versus Combination Therapy (Risperidone, Quetiapine, or Olanzapine + Divalproex)in the Management of Dementia With Agitation: A Pilot Comparison of Two Standard Therapies Completed NCT00208819 Phase 4 risperidone;quetiapine;olanzapine;divalproex
24 Progesterone Reduces Wakefulness in Sleep EEG and Has no Effect on Cognition in Healthy Postmenopausal Women Completed NCT00530582 Phase 4 progesterone
25 Developmental Processes in Schizophrenic Disorders: Cognitive Remediation, Medication Adherence, and Work Outcome in Recent-Onset Schizophrenia Completed NCT00333177 Phase 4 Risperidone, administered orally (Oral Ris);Risperidone, administered via injection (RLAI)
26 Preventing Morbidity in First Episode Schizophrenia, Part II Completed NCT00320671 Phase 4 Aripiprazole;Risperidone
27 Validation of Dyskinesia Rating Scales Completed NCT01071395 Phase 4 Amantadine;Placebo
28 Propranolol and Botulinum Toxin for Essential Vocal Tremor Completed NCT02111369 Phase 4 Propranolol
29 An Open-Label Prospective Study of Restless Legs Patients Switched to Ropinirole From Pramipexole to Help Determine the Equipotent Dose Completed NCT00344994 Phase 4 pramipexole
30 Randomized Controlled Trial of The Safety and Efficacy of Aripiprazole VS Ziprasidone in Schizophrenic Patients With Metabolic Syndrome and Diabetes Mellitus. Completed NCT01714011 Phase 4 Ziprasidone;Aripiprazole
31 A Double-Blind, Randomised, Parallel-Group Comparison of Ethyl-Eicosapentaenoic Acid (Ethyl-EPA) Versus Placebo as Add-on Medication in Patients With Established Tardive Dyskinesia Completed NCT00114595 Phase 4 eicosapentaenoic acid
32 Tolerability, Safety and Efficacy of Vortioxetine for Treatment od Depression in Parkinson's Disease: a 16 Week Open Label Study Recruiting NCT04301492 Phase 4 Vortioxetine
33 Effects of Anesthesia Drugs on Neuronal Activity in the Basal Ganglia and Thalamus During Deep Brain Stimulation Electrode Implantation Surgery Recruiting NCT03283150 Phase 4 Remifentanil;Propofol;Dexmedetomidine
34 Clinical and Cognitive Effects of Paliperidone Palmitate vs. Oral Risperidone in First-Episode Schizophrenia Active, not recruiting NCT01451736 Phase 4 paliperidone palmitate;risperidone
35 Controlled Trial of Deep Brain Stimulation for Obsessive-Compulsive Disorder Active, not recruiting NCT00640133 Phase 4
36 Clinical Effects of Vitamin D Repletion in Patients With Parkinson's Disease Terminated NCT00571285 Phase 4
37 Functional Vision Consequences of Rehabilitation for TBI Vision Loss Terminated NCT01214070 Phase 4
38 An Open-Label Trial of Adjunctive Galantamine Maintenance Therapy to Treat Functional Impairments in Chronic Outpatients With Schizophrenia Terminated NCT00232349 Phase 4 galantamine
39 Simvastatin Addition for Patients With Recent-onset Schizophrenia Unknown status NCT01999309 Phase 3 Simvastatin;Placebo
40 Evaluation of the Diagnostic Accuracy and Safety of 123 I-ALTROPANE® as an Imaging Agent to Aid in the Diagnosis of Parkinsonian Syndromes (POET-2) Unknown status NCT00724906 Phase 3 123 I - ALTROPANE®
41 Effectiveness of Vojta Therapy in Motor Development of Preterm Children Unknown status NCT01838278 Phase 3
42 An Open Label, Multicenter Study, Evaluating the Safety and Efficacy of 18F-AV-133 PET Imaging to Identify Subjects With Dopaminergic Degeneration Among Subjects Presenting to a Movement Disorders Specialty Clinic With an Uncertain Diagnosis Completed NCT01550484 Phase 2, Phase 3 18F-AV-133
43 Safety, Tolerability, and Treatment Response of Paliperidone Palmitate in Subjects With Schizophrenia When Switching From Oral Antipsychotics Completed NCT01051531 Phase 3 Paliperidone palmitate
44 A Randomized, Double-Blind, Placebo-Controlled Study of SD-809 (Deutetrabenazine) for the Treatment of Moderate to Severe Tardive Dyskinesia Completed NCT02195700 Phase 2, Phase 3 SD-809;Placebo
45 A Randomized, Double-Blind, Placebo-Controlled, Fixed-Dose Study of SD-809 (Deutetrabenazine) for the Treatment of Moderate to Severe Tardive Dyskinesia Completed NCT02291861 Phase 3 SD-809;Placebo
46 An Open-Label, Multicenter Study Evaluating the Safety and Tolerability of Once-daily Oral Aripiprazole in Children and Adolescents With Tourette's Disorder Completed NCT01727713 Phase 3 Aripiprazole
47 A Multicenter, Randomized, Double-blind, Placebo-controlled Study Evaluating the Safety and Efficacy of Fixed-Dose Once-daily Oral Aripiprazole in Children and Adolescents With Tourette's Disorder Completed NCT01727700 Phase 3 Aripiprazole;Placebo
48 Efficacy of Vitamin C, Vitamin E and Their Combination for Treatment of Restless Legs Syndrome in Hemodialysis Patients: a Randomized Double-blind, Placebo-controlled Trial Completed NCT01125033 Phase 2, Phase 3 Vitamin C & Vitamin E;Vitamin C;Vitamin E;Vitamin C Placebo & Vitamin E Placebo
49 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
50 Tropisetron With Risperidone for Schizophrenia Completed NCT00435370 Phase 3 Tropisetron;Placebo;Risperidone

Search NIH Clinical Center for Movement Disease

Cochrane evidence based reviews: movement disorders

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Genetic Tests for Movement Disease

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Genetic tests related to Movement Disease:

# Genetic test Affiliating Genes
1 Movement Disorder 29
Sources

Anatomical Context for Movement Disease

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MalaCards organs/tissues related to Movement Disease:

40
Brain, Eye, Testes, Cortex, Subthalamic Nucleus, Globus Pallidus, Spinal Cord
Sources

Publications for Movement Disease

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Articles related to Movement Disease:

(show top 50) (show all 9530)
# Title Authors PMID Year
1
Clarifying Misleading Lumps and Sinuses in the Newborn. 42
32482690 2020
2
Clinical manifestation of non-ketotic hyperglycemia chorea: A case report and literature review. 42
32481362 2020
3
Choosing a Parkinson Disease Treatment. 42
32286645 2020
4
Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings. 61 54
20006850 2010
5
Improved behavioral response as a valid biomarker for drug screening program in transgenic rodent models of tauopathies. 61 54
19283467 2009
6
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 54 61
19478460 2009
7
Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. 61 54
19205068 2009
8
A common variant in DRD3 receptor is associated with autism spectrum disorder. 61 54
19058789 2009
9
Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease. 61 54
18638039 2009
10
[Glucose transporter type 1 (GLUT-1) deficiency]. 54 61
18808765 2008
11
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. 54 61
18704525 2008
12
Comparison between a dual-head and a brain-dedicated SPECT system in the measurement of the loss of dopamine transporters with [123I]FP-CIT. 61 54
18283454 2008
13
Clinical use of dopamine transporter imaging in movement disorders: benefits of appropriate use. 61 54
18425514 2008
14
[Clinical and pathological study on early diagnosis of Parkinson's disease and dementia with Lewy bodies]. 54 61
18386627 2008
15
Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia. 61 54
18044725 2008
16
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. 61 54
17702043 2007
17
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. 54 61
18058633 2007
18
Dopamine transporter binding in smokers and nonsmokers. 61 54
17515751 2007
19
Initial clinical experience with [123I]ioflupane scintigraphy in movement disorders. 54 61
17398272 2007
20
Size bias of fragile X premutation alleles in late-onset movement disorders. 61 54
16723388 2006
21
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. 54 61
16962235 2006
22
Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder. 61 54
16822677 2006
23
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. 54 61
16149086 2006
24
Prevalence of FMR1 repeat expansions in movement disorders. A systematic review. 54 61
16493202 2006
25
The role of alpha-synuclein and tau in neurodegenerative movement disorders. 61 54
16003109 2005
26
Fragile X-associated tremor/ataxia syndrome and movements disorders. 54 61
16003114 2005
27
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. 54 61
15937479 2005
28
Radiosynthesis and evaluation of [11C]-(+)-4-propyl-3,4,4a,5,6,10b-hexahydro-2H-naphtho[1,2-b][1,4]oxazin-9-ol as a potential radiotracer for in vivo imaging of the dopamine D2 high-affinity state with positron emission tomography. 61 54
15943487 2005
29
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). 54 61
15786464 2005
30
Neuronal inclusions in degenerative disorders Do they represent static features or a key to understand the dynamics of the disease? 54 61
15811592 2005
31
Differences in [99mTc]TRODAT-1 SPECT binding to dopamine transporters in patients with multiple system atrophy and Parkinson's disease. 54 61
15791439 2005
32
Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease. 61 54
15548484 2004
33
[Utility of dopamine transporter imaging (123-I Ioflupane SPECT) in the assessment of movement disorders]. 54 61
15207208 2004
34
[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome]. 54 61
15152356 2004
35
Mutations in DYT1: extension of the phenotypic and mutational spectrum. 54 61
14872019 2004
36
The Role of alpha-synuclein assembly and metabolism in the pathogenesis of Lewy body disease. 61 54
15655259 2004
37
Novel monoclonal antibodies demonstrate biochemical variation of brain parkin with age. 54 61
12972409 2003
38
[Imaging of dopamine transporter with Tc99m-Trodat-SPECT in movement disorders]. 61 54
12971118 2003
39
D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes. 54 61
12497624 2003
40
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment. 61 54
12597058 2002
41
The feasibility of statistical parametric mapping for the analysis of positron emission tomography studies using 11C-2-beta-carbomethoxy-3-beta-(4-fluorophenyl)-tropane in patients with movement disorders. 54 61
12411832 2002
42
Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia? 54 61
12360559 2002
43
Striatopallidal neurons are selectively protected by neurturin in an excitotoxic model of Huntington's disease. 61 54
11891666 2002
44
Recent advances in the understanding of tau protein and movement disorders. 61 54
11470966 2001
45
Distribution and immunohistochemical characterization of torsinA immunoreactivity in rat brain. 54 61
11334819 2001
46
Pharmacogenetic assessment of antipsychotic-induced movement disorders: contribution of the dopamine D3 receptor and cytochrome P450 1A2 genes. 54 61
11179771 2001
47
Tau gene mutations and neurodegeneration. 54 61
11447840 2001
48
The DRD2 gene in psychiatric and neurological disorders and its phenotypes. 61 54
11256581 2000
49
Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 54 61
10983715 2000
50
Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Their relevance for understanding the neurogenerative process. 54 61
11193179 2000
Sources

Variations for Movement Disease

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ClinVar genetic disease variations for Movement Disease:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro)SNV Pathogenic,risk factor 4288 rs421016 1:155205043-155205043 1:155235252-155235252
2 GNAO1 NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)SNV Pathogenic 265350 rs886039494 16:56370674-56370674 16:56336762-56336762
3 BCS1L NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)SNV Likely pathogenic 625208 2:219526539-219526539 2:218661816-218661816
4 SCN2A NM_001040142.2(SCN2A):c.1270G>T (p.Val424Leu)SNV Likely pathogenic 812987 2:166170505-166170505 2:165313995-165313995
5 TBC1D24 NM_001199107.2(TBC1D24):c.901C>T (p.Gln301Ter)SNV Likely pathogenic 812998 16:2547050-2547050 16:2497049-2497049
6 BCS1L NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)SNV Conflicting interpretations of pathogenicity 625207 rs369691608 2:219525978-219525978 2:218661255-218661255
7 ITPR1 NM_001168272.1(ITPR1):c.2432C>T (p.Ser811Phe)SNV Uncertain significance 523421 rs1553686424 3:4715906-4715906 3:4674222-4674222
8 46;XY;t(1;6)(q23;q13)dnTranslocation Uncertain significance 267836
9 TBC1D24 NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu)SNV Uncertain significance 207501 rs796053400 16:2546754-2546754 16:2496753-2496753

Copy number variations for Movement Disease from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 262562 X 37500000 47300000 Deletion MAOA Movement disorder
2 262566 X 37500000 47300000 Deletion MAOB Movement disorder
Sources

Expression for Movement Disease

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Search GEO for disease gene expression data for Movement Disease.
Sources

Pathways for Movement Disease

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Pathways related to Movement Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Parkinson disease 36
Show member pathways
 12.92 TH SNCA SLC6A3 PRKN PINK1 PARK7
2
Circadian entrainment 36
Show member pathways
 12.47 TH SLC6A3 GNAO1 DRD3 DRD2
3
Chks in Checkpoint Regulation 63
Show member pathways
 12.37 SNCA SLC6A3 PRKN PINK1 PARK7
4
Neuroscience 4
11.9 TOR1A TH SNCA PRKN PINK1 PARK7
5
Parkinsons Disease Pathway 1
11.62 TH SNCA SLC6A3 PRKN PINK1 PARK7
6
Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics 60
Show member pathways
 11.61 TH DRD3 DRD2
7
Methylphenidate Pathway, Pharmacodynamics 60
Show member pathways
 10.98 TH SLC6A3 DRD3 DRD2
8
Alpha-synuclein signaling 1
10.94 TOR1A TH SNCA SLC6A3 PRKN PARK7
Sources

GO Terms for Movement Disease

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Cellular components related to Movement Disease according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.45 TOR1A TH SNCA SLC6A3 SGCE PRKN
2 cytosol GO:0005829 10.42 TOR1A TH SNCA PRKN PINK1 PARK7
3 mitochondrion GO:0005739 10.21 TH SNCA PRKN PINK1 PARK7 PANK2
4 endoplasmic reticulum GO:0005783 10.19 TOR1A PRKN PINK1 PARK7 LRRK2 HTT
5 Golgi apparatus GO:0005794 10.18 SNCA SGCE PRKN LRRK2 HTT GBA
6 cytoplasmic vesicle GO:0031410 10.1 TOR1A TH LRRK2 HTT GCH1 DRD2
7 perinuclear region of cytoplasm GO:0048471 10.05 TH SNCA PRKN PINK1 PARK7 HTT
8 synapse GO:0045202 10.02 TOR1A SNCA PRKN PARK7 LRRK2 FMR1
9 neuronal cell body GO:0043025 9.95 TH SNCA SLC6A3 MAPT LRRK2 FMR1
10 membrane raft GO:0045121 9.93 SLC6A3 PARK7 MAPT LRRK2
11 cytoplasmic vesicle membrane GO:0030659 9.88 TOR1A TH SNCA HTT
12 presynapse GO:0098793 9.87 SNCA PRKN PARK7 FMR1
13 dendrite GO:0030425 9.86 TH SGCE MAPT LRRK2 HTT GNAO1
14 perikaryon GO:0043204 9.85 TH LRRK2 FMR1 DRD2
15 synaptic vesicle GO:0008021 9.84 TOR1A TH SNCA LRRK2
16 cell body GO:0044297 9.83 PINK1 PARK7 MAPT GNAO1
17 growth cone GO:0030426 9.8 TOR1A SNCA PINK1 MAPT LRRK2 FMR1
18 axon terminus GO:0043679 9.79 SNCA FMR1 DRD2
19 synaptic vesicle membrane GO:0030672 9.78 SNCA LRRK2 DRD3 DRD2
20 terminal bouton GO:0043195 9.77 TH SNCA LRRK2
21 mitochondrial intermembrane space GO:0005758 9.76 SNCA PINK1 PARK7 PANK2
22 neuron projection GO:0043005 9.76 TOR1A TH SLC6A3 PRKN PARK7 MAPT
23 cell GO:0005623 9.7 TOR1A TH SNCA PRKN PARK7 MAPT
24 inclusion body GO:0016234 9.67 SNCA LRRK2 HTT
25 presynaptic cytosol GO:0099523 9.64 LRRK2 HTT
26 glial cell projection GO:0097386 9.64 MAPT FMR1
27 dopaminergic synapse GO:0098691 9.61 SLC6A3 DRD3 DRD2
28 Lewy body GO:0097413 9.56 PRKN PINK1
29 axon GO:0030424 9.36 TH SNCA SLC6A3 PINK1 PARK7 MAPT

Biological processes related to Movement Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 10.08 TH SNCA SLC6A3 DRD3 DRD2
2 negative regulation of neuron apoptotic process GO:0043524 10 SNCA PRKN PINK1 PARK7
3 response to oxidative stress GO:0006979 9.98 TOR1A PRKN PINK1 LRRK2
4 response to ethanol GO:0045471 9.95 TH SLC6A3 DRD3 DRD2
5 cellular response to oxidative stress GO:0034599 9.93 SNCA PINK1 PARK7 LRRK2
6 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.92 SNCA PINK1 PARK7
7 regulation of autophagy GO:0010506 9.91 PRKN MAPT LRRK2
8 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.91 GNAO1 DRD3 DRD2
9 negative regulation of cell death GO:0060548 9.91 PRKN PARK7 DRD2
10 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.91 PRKN LRRK2 GBA
11 mitochondrion organization GO:0007005 9.91 PRKN PINK1 PARK7 LRRK2 GBA
12 learning GO:0007612 9.9 TH PRKN DRD3
13 excitatory postsynaptic potential GO:0060079 9.89 SNCA LRRK2 DRD2
14 adult locomotory behavior GO:0008344 9.88 SNCA PRKN PARK7
15 protein destabilization GO:0031648 9.88 SNCA PRKN HTT
16 response to nicotine GO:0035094 9.87 TH SLC6A3 DRD2
17 response to cocaine GO:0042220 9.87 SNCA SLC6A3 DRD3 DRD2
18 response to amphetamine GO:0001975 9.85 TH DRD3 DRD2
19 negative regulation of protein phosphorylation GO:0001933 9.85 SNCA PRKN PARK7 LRRK2 DRD2
20 regulation of dopamine secretion GO:0014059 9.83 SNCA PRKN DRD3 DRD2
21 negative regulation of blood pressure GO:0045776 9.82 GCH1 DRD3 DRD2
22 regulation of reactive oxygen species metabolic process GO:2000377 9.81 SNCA PRKN PINK1
23 regulation of neurotransmitter secretion GO:0046928 9.8 SNCA PRKN FMR1
24 locomotory behavior GO:0007626 9.8 TH SLC6A3 PRKN GNAO1 DRD3 DRD2
25 autophagy GO:0006914 9.8 PRKN PINK1 PARK7 LRRK2 GBA DRD3
26 dopamine receptor signaling pathway GO:0007212 9.79 GNAO1 DRD3 DRD2
27 behavioral response to cocaine GO:0048148 9.79 SNCA DRD3 DRD2
28 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.78 PRKN PARK7 LRRK2
29 regulation of mitochondrial membrane potential GO:0051881 9.78 PRKN PINK1 PARK7 PANK2
30 negative regulation of voltage-gated calcium channel activity GO:1901386 9.77 FMR1 DRD3 DRD2
31 prepulse inhibition GO:0060134 9.77 SLC6A3 DRD3 DRD2
32 negative regulation of oxidative stress-induced neuron death GO:1903204 9.76 PINK1 PARK7
33 positive regulation of proteasomal protein catabolic process GO:1901800 9.76 PRKN FMR1
34 cellular response to dopamine GO:1903351 9.76 PRKN LRRK2
35 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.76 PARK7 LRRK2
36 negative regulation of autophagosome assembly GO:1902902 9.76 PINK1 LRRK2
37 negative regulation of oxidative stress-induced cell death GO:1903202 9.76 PRKN PINK1 PARK7
38 negative regulation of synaptic transmission, glutamatergic GO:0051967 9.75 DRD3 DRD2
39 behavioral response to ethanol GO:0048149 9.75 DRD3 DRD2
40 negative regulation of macroautophagy GO:0016242 9.75 PINK1 LRRK2
41 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.75 DRD3 DRD2
42 neurotransmitter biosynthetic process GO:0042136 9.75 TH SLC6A3
43 positive regulation of renal sodium excretion GO:0035815 9.75 DRD3 DRD2
44 G protein-coupled receptor internalization GO:0002031 9.75 DRD3 DRD2
45 cellular response to manganese ion GO:0071287 9.75 TH PRKN LRRK2
46 supramolecular fiber organization GO:0097435 9.74 SNCA MAPT
47 striatum development GO:0021756 9.74 LRRK2 DRD2
48 regulation of potassium ion transport GO:0043266 9.74 DRD3 DRD2
49 regulation of dopamine metabolic process GO:0042053 9.74 SLC6A3 PRKN
50 adenylate cyclase-inhibiting dopamine receptor signaling pathway GO:0007195 9.74 DRD3 DRD2

Molecular functions related to Movement Disease according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.78 SNCA MAPT LRRK2 FMR1
2 enzyme binding GO:0019899 9.72 TH SNCA PRKN PARK7 MAPT
3 kinase binding GO:0019900 9.7 PRKN PARK7 HTT
4 chaperone binding GO:0051087 9.69 PRKN MAPT ATP1A3
5 identical protein binding GO:0042802 9.65 TOR1A SNCA PRKN PARK7 MAPT LRRK2
6 drug binding GO:0008144 9.63 SLC6A3 DRD3 DRD2
7 protein-containing complex binding GO:0044877 9.63 SLC6A3 PRKN PINK1 PARK7 GCH1 DRD2
8 tubulin binding GO:0015631 9.58 PRKN MAPT LRRK2
9 dynactin binding GO:0034452 9.49 MAPT HTT
10 dopamine neurotransmitter receptor activity, coupled via Gi/Go GO:0001591 9.43 DRD3 DRD2
11 cuprous ion binding GO:1903136 9.37 SNCA PARK7
12 dopamine neurotransmitter receptor activity GO:0004952 9.26 DRD3 DRD2
13 dopamine binding GO:0035240 8.92 TH SLC6A3 DRD3 DRD2
Sources

Sources for Movement Disease

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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