MCID: MVM001
MIFTS: 63

Movement Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Movement Disease

MalaCards integrated aliases for Movement Disease:

Name: Movement Disease 12 15
Movement Disorders 55 43 44 72
Abnormality of Movement 29 6
Movement Disorder 15 17

Classifications:



External Ids:

Disease Ontology 12 DOID:480
MeSH 44 D009069
NCIt 50 C116757
SNOMED-CT 68 60342002
UMLS 72 C0026650

Summaries for Movement Disease

MedlinePlus : 43 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 neurodegeneration with brain iron accumulation and dystonia 11, myoclonic, and has symptoms including seizures, ataxia and tremor. An important gene associated with Movement Disease is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Chks in Checkpoint Regulation. The drugs Trimetazidine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are behavior/neurological and cellular

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.

Related Diseases for Movement Disease

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 878)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 32.9 SNCA PANK2 FTL
2 dystonia 11, myoclonic 32.8 TOR1A TH SGCE GCH1 ATP1A3
3 dystonia 12 32.7 TOR1A SGCE PANK2 GCH1 ATP1A3
4 focal dystonia 32.7 TOR1A SGCE DRD2
5 dystonia 1, torsion, autosomal dominant 32.6 TOR1A TH SGCE GCH1
6 essential tremor 32.6 SNCA SLC6A3 PRKN LRRK2 FMR1 DRD3
7 restless legs syndrome 32.6 SLC6A3 DRD3 DRD2
8 oromandibular dystonia 32.0 TOR1A GCH1
9 tremor 31.9 SNCA PRKN MAPT LRRK2 GBA FMR1
10 postencephalitic parkinson disease 31.8 SNCA MAPT LRRK2
11 dystonia 31.6 TOR1A TH SLC6A3 SGCE PRKN PANK2
12 striatonigral degeneration 31.5 SNCA SLC6A3 DRD2
13 gilles de la tourette syndrome 31.4 SLC6A3 SGCE DRD2
14 corticobasal degeneration 31.3 MAPT LRRK2 GBA
15 aceruloplasminemia 31.3 SNCA PANK2 FTL FMR1 ATP1A3
16 rem sleep behavior disorder 31.2 SNCA SLC6A3 LRRK2
17 dystonia, dopa-responsive 31.2 TOR1A TH SLC6A3 SGCE GCH1 ATP1A3
18 dementia, lewy body 31.1 TH SNCA SLC6A3 PRKN PARK7 MAPT
19 segawa syndrome, autosomal recessive 31.1 TH GCH1
20 hereditary late-onset parkinson disease 31.0 SNCA LRRK2 GBA
21 hereditary dystonia 31.0 TH GCH1
22 segmental dystonia 31.0 TOR1A GCH1
23 obsessive-compulsive disorder 30.9 SLC6A3 SGCE DRD3 DRD2
24 hemidystonia 30.9 TOR1A SNCA SGCE GCH1 ATP1A3
25 parkinson disease 15, autosomal recessive early-onset 30.9 SNCA PRKN PANK2
26 supranuclear palsy, progressive, 1 30.8 TH SNCA SLC6A3 PRKN PARK7 MAPT
27 machado-joseph disease 30.8 SNCA SLC6A3 HTT
28 multifocal dystonia 30.7 TOR1A ATP1A3
29 substance abuse 30.7 SLC6A3 DRD3 DRD2
30 parkinson disease 2, autosomal recessive juvenile 30.5 SNCA PRKN PINK1 PARK7 LRRK2
31 parkinson disease, late-onset 30.3 TH SNCA SLC6A3 PRKN PINK1 PARK7
32 gaucher's disease 30.3 SNCA PRKN GBA
33 attention deficit-hyperactivity disorder 30.3 TH SLC6A3 FMR1 DRD3 DRD2
34 multiple system atrophy 1 30.3 TH SNCA SLC6A3 PRKN MAPT LRRK2
35 mood disorder 30.3 TH DRD3 DRD2
36 psychotic disorder 30.2 SLC6A3 DRD3 DRD2
37 akinetic mutism 30.2 SLC6A3 MAPT
38 cocaine abuse 30.2 SNCA SLC6A3 DRD2
39 dementia 30.2 SNCA SLC6A3 PRKN PARK7 MAPT LRRK2
40 pathological gambling 30.1 SLC6A3 DRD3 DRD2
41 toxic encephalopathy 30.1 TH SNCA SLC6A3
42 early-onset parkinson's disease 30.0 SNCA PRKN PINK1 PARK7 LRRK2 GCH1
43 bipolar disorder 30.0 TH SLC6A3 DRD3 DRD2
44 parkinson disease 3, autosomal dominant 29.7 SNCA PRKN PARK7 MAPT LRRK2
45 central nervous system disease 28.7 TH SNCA SLC6A3 PRKN PINK1 MAPT
46 nervous system disease 28.7 TH SNCA SLC6A3 PRKN PINK1 PARK7
47 stereotypic movement disorder 12.6
48 periodic limb movement disorder 12.6
49 vps13d movement disorder 12.4
50 deep brain stimulation for movement disorders 12.3

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



Diseases related to Movement Disease

Symptoms & Phenotypes for Movement Disease

UMLS symptoms related to Movement Disease:


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

MGI Mouse Phenotypes related to Movement Disease:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.5 ATP1A3 DRD2 DRD3 FMR1 GAMT GBA
2 cellular MP:0005384 10.43 DRD2 FMR1 GAMT GBA HTT LRRK2
3 homeostasis/metabolism MP:0005376 10.41 ATP1A3 DRD2 DRD3 GAMT GBA GCH1
4 growth/size/body region MP:0005378 10.4 ATP1A3 DRD2 DRD3 FMR1 GAMT GBA
5 cardiovascular system MP:0005385 10.31 DRD2 DRD3 GBA GCH1 HTT LRRK2
6 mortality/aging MP:0010768 10.31 ATP1A3 DRD2 DRD3 GAMT GBA GCH1
7 nervous system MP:0003631 10.28 ATP1A3 DRD2 DRD3 FMR1 GBA GCH1
8 endocrine/exocrine gland MP:0005379 10.25 DRD2 FMR1 GAMT GBA HTT LRRK2
9 immune system MP:0005387 10.2 ATP1A3 DRD2 GBA HTT LRRK2 MAPT
10 integument MP:0010771 10.17 ATP1A3 DRD2 FMR1 GBA HTT LRRK2
11 muscle MP:0005369 9.97 ATP1A3 DRD2 MAPT PANK2 PRKN SGCE
12 no phenotypic analysis MP:0003012 9.86 DRD2 HTT LRRK2 MAPT PINK1 PRKN
13 normal MP:0002873 9.85 DRD2 GBA HTT LRRK2 MAPT PRKN
14 renal/urinary system MP:0005367 9.5 DRD2 DRD3 GAMT LRRK2 MAPT PANK2
15 taste/olfaction MP:0005394 9.1 DRD2 HTT MAPT PINK1 SLC6A3 SNCA

Drugs & Therapeutics for Movement Disease

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

(show top 50) (show all 300)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trimetazidine Approved, Investigational Phase 4 5011-34-7
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
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 91374-21-9, 91374-20-8 5095 497540
8
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
9
Rasagiline Approved Phase 4 136236-51-6 3052776
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
Histamine Approved, Investigational Phase 4 51-45-6 774
14
Clozapine Approved Phase 4 5786-21-0 2818
15
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
16
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
17
Galantamine Approved Phase 4 357-70-0 9651
18
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
19
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
20
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
21
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
22
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
23
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
24 Carbidopa, levodopa drug combination Phase 4
25 Tranquilizing Agents Phase 4
26 Central Nervous System Depressants Phase 4
27 Antipsychotic Agents Phase 4
28 Psychotropic Drugs Phase 4
29 Neurotransmitter Agents Phase 4
30 Adrenergic Agents Phase 4
31 Serotonin Uptake Inhibitors Phase 4
32 Quetiapine Fumarate Phase 4 111974-72-2
33 Serotonin Antagonists Phase 4
34 Antiemetics Phase 4
35 Serotonin Agents Phase 4
36 Dopamine Agents Phase 4
37 Antidepressive Agents Phase 4
38 Antiparkinson Agents Phase 4
39 Excitatory Amino Acid Antagonists Phase 4
40 Excitatory Amino Acids Phase 4
41 Dopamine agonists Phase 4
42 Anti-Infective Agents Phase 4
43 Antiviral Agents Phase 4
44 Adrenergic beta-Antagonists Phase 4
45 Serotonin 5-HT2 Receptor Antagonists Phase 4
46 Neuroprotective Agents Phase 4
47 Protective Agents Phase 4
48 incobotulinumtoxinA Phase 4
49 Anti-Arrhythmia Agents Phase 4
50 Soy Bean Phase 4

Interventional clinical trials:

(show top 50) (show all 606)
# 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 Evaluation of Efficacy and Tolerability of Switching to Ziprasidone From Other Antipsychotic Medications Completed NCT00458211 Phase 4 ziprasidone
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 Treatment of Tardive Dyskinesia With Galantamine Completed NCT00164242 Phase 4 Galantamine
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 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
23 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)
24 Preventing Morbidity in First Episode Schizophrenia, Part II Completed NCT00320671 Phase 4 Aripiprazole;Risperidone
25 Developmental Processes in Schizophrenic Disorders: Cognitive Remediation, Medication Adherence, and Work Outcome in Recent-Onset Schizophrenia Completed NCT00333177 Phase 4 Risperidone, administered orally;Risperidone, administered via injection
26 Progesterone Reduces Wakefulness in Sleep EEG and Has no Effect on Cognition in Healthy Postmenopausal Women Completed NCT00530582 Phase 4 progesterone
27 Propranolol and Botulinum Toxin for Essential Vocal Tremor Completed NCT02111369 Phase 4 Propranolol
28 Validation of Dyskinesia Rating Scales Completed NCT01071395 Phase 4 Amantadine;Placebo
29 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
30 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
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 Clinical and Cognitive Effects of Paliperidone Palmitate vs. Oral Risperidone in First-Episode Schizophrenia Recruiting NCT01451736 Phase 4 paliperidone palmitate;risperidone
33 Clinical Effects of Vitamin D Repletion in Patients With Parkinson's Disease Terminated NCT00571285 Phase 4
34 Functional Vision Consequences of Rehabilitation for TBI Vision Loss Terminated NCT01214070 Phase 4
35 An Open-Label Trial of Adjunctive Galantamine Maintenance Therapy to Treat Functional Impairments in Chronic Outpatients With Schizophrenia Terminated NCT00232349 Phase 4 galantamine
36 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®
37 Effectiveness of Vojta Therapy in Motor Development of Preterm Children Unknown status NCT01838278 Phase 3
38 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
39 Safety, Tolerability, and Treatment Response of Paliperidone Palmitate in Subjects With Schizophrenia When Switching From Oral Antipsychotics Completed NCT01051531 Phase 3 Paliperidone palmitate
40 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
41 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
42 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
43 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
44 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
45 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
46 Deep Brain Stimulation for Parkinson's Disease Trial Completed NCT00053625 Phase 3
47 Prospective,Randomised, Double-blind, Multicenter Study to Assess the Efficacy and Safety of Bilateral Globus Pallidus Internus - in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
48 Tropisetron With Risperidone for Schizophrenia Completed NCT00435370 Phase 3 Tropisetron;Placebo;Risperidone
49 Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study Completed NCT01806805 Phase 3 zonegran;placebo
50 Study of Efficacy and Acceptability of Tetrabenazine in the Late Dyskinetic Syndrome With Neuroleptics: A Randomized, Parallel Group, Double-blind Placebo Controlled Multicentre Trial Completed NCT01543321 Phase 3 Tetrabenazine;Placebo

Search NIH Clinical Center for Movement Disease

Cochrane evidence based reviews: movement disorders

Genetic Tests for Movement Disease

Genetic tests related to Movement Disease:

# Genetic test Affiliating Genes
1 Abnormality of Movement 29

Anatomical Context for Movement Disease

MalaCards organs/tissues related to Movement Disease:

41
Brain, Eye, Cortex, Testes, Subthalamic Nucleus, Globus Pallidus, Spinal Cord

Publications for Movement Disease

Articles related to Movement Disease:

(show top 50) (show all 8967)
# Title Authors PMID Year
1
Essential tremor: diagnosis and management. 38 17
31383632 2019
2
Changing the treatment paradigm for Parkinson's disease psychosis with pimavanserin. 17
31159608 2019
3
Nitroalkylation of α-Synuclein by Nitro-Oleic Acid: Implications for Parkinson's Disease. 17
31140178 2019
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. 9 38
20006850 2010
5
Improved behavioral response as a valid biomarker for drug screening program in transgenic rodent models of tauopathies. 9 38
19283467 2009
6
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 9 38
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. 9 38
19205068 2009
8
A common variant in DRD3 receptor is associated with autism spectrum disorder. 9 38
19058789 2009
9
Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease. 9 38
18638039 2009
10
[Glucose transporter type 1 (GLUT-1) deficiency]. 9 38
18808765 2008
11
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. 9 38
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. 9 38
18283454 2008
13
Clinical use of dopamine transporter imaging in movement disorders: benefits of appropriate use. 9 38
18425514 2008
14
[Clinical and pathological study on early diagnosis of Parkinson's disease and dementia with Lewy bodies]. 9 38
18386627 2008
15
Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia. 9 38
18044725 2008
16
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. 9 38
17702043 2007
17
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. 9 38
18058633 2007
18
Dopamine transporter binding in smokers and nonsmokers. 9 38
17515751 2007
19
Initial clinical experience with [123I]ioflupane scintigraphy in movement disorders. 9 38
17398272 2007
20
Size bias of fragile X premutation alleles in late-onset movement disorders. 9 38
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. 9 38
16962235 2006
22
Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder. 9 38
16822677 2006
23
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. 9 38
16149086 2006
24
Prevalence of FMR1 repeat expansions in movement disorders. A systematic review. 9 38
16493202 2006
25
Fragile X-associated tremor/ataxia syndrome and movements disorders. 9 38
16003114 2005
26
The role of alpha-synuclein and tau in neurodegenerative movement disorders. 9 38
16003109 2005
27
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. 9 38
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. 9 38
15943487 2005
29
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). 9 38
15786464 2005
30
Neuronal inclusions in degenerative disorders Do they represent static features or a key to understand the dynamics of the disease? 9 38
15811592 2005
31
Differences in [99mTc]TRODAT-1 SPECT binding to dopamine transporters in patients with multiple system atrophy and Parkinson's disease. 9 38
15791439 2005
32
Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease. 9 38
15548484 2004
33
[Utility of dopamine transporter imaging (123-I Ioflupane SPECT) in the assessment of movement disorders]. 9 38
15207208 2004
34
[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome]. 9 38
15152356 2004
35
Mutations in DYT1: extension of the phenotypic and mutational spectrum. 9 38
14872019 2004
36
The Role of alpha-synuclein assembly and metabolism in the pathogenesis of Lewy body disease. 9 38
15655259 2004
37
Novel monoclonal antibodies demonstrate biochemical variation of brain parkin with age. 9 38
12972409 2003
38
[Imaging of dopamine transporter with Tc99m-Trodat-SPECT in movement disorders]. 9 38
12971118 2003
39
D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes. 9 38
12497624 2003
40
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment. 9 38
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. 9 38
12411832 2002
42
Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia? 9 38
12360559 2002
43
Striatopallidal neurons are selectively protected by neurturin in an excitotoxic model of Huntington's disease. 9 38
11891666 2002
44
Recent advances in the understanding of tau protein and movement disorders. 9 38
11470966 2001
45
Distribution and immunohistochemical characterization of torsinA immunoreactivity in rat brain. 9 38
11334819 2001
46
Tau gene mutations and neurodegeneration. 9 38
11447840 2001
47
Pharmacogenetic assessment of antipsychotic-induced movement disorders: contribution of the dopamine D3 receptor and cytochrome P450 1A2 genes. 9 38
11179771 2001
48
The DRD2 gene in psychiatric and neurological disorders and its phenotypes. 9 38
11256581 2000
49
Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 9 38
10983715 2000
50
Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Their relevance for understanding the neurogenerative process. 9 38
11193179 2000

Variations for Movement Disease

ClinVar genetic disease variations for Movement Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GBA NM_001005741.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 1:155205043-155205043 1:155235252-155235252
2 46;XY;t(1;6)(q23;q13)dn Translocation Uncertain significance
3 ITPR1 NM_001168272.1(ITPR1): c.2432C> T (p.Ser811Phe) single nucleotide variant Uncertain significance rs1553686424 3:4715906-4715906 3:4674222-4674222

Copy number variations for Movement Disease from CNVD:

7
# CNVD ID Chromosom 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

Expression for Movement Disease

Search GEO for disease gene expression data for Movement Disease.

Pathways for Movement Disease

GO Terms for Movement Disease

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.9 SLC6A3 PARK7 MAPT LRRK2
2 dendrite GO:0030425 9.87 TH SGCE MAPT LRRK2 HTT FMR1
3 cytoplasmic vesicle membrane GO:0030659 9.84 TOR1A TH SNCA HTT
4 synaptic vesicle GO:0008021 9.83 TOR1A TH SNCA LRRK2
5 perikaryon GO:0043204 9.81 TH LRRK2 FMR1 DRD2
6 presynapse GO:0098793 9.8 SNCA PRKN PARK7 FMR1
7 neuronal cell body GO:0043025 9.8 TH SNCA SLC6A3 MAPT LRRK2 FMR1
8 cell body GO:0044297 9.79 PINK1 PARK7 MAPT
9 synaptic vesicle membrane GO:0030672 9.79 SNCA LRRK2 DRD2
10 axon terminus GO:0043679 9.76 SNCA FMR1 DRD2
11 terminal bouton GO:0043195 9.74 TH SNCA LRRK2
12 mitochondrial intermembrane space GO:0005758 9.71 SNCA PINK1 PARK7 PANK2
13 presynaptic cytosol GO:0099523 9.63 LRRK2 HTT
14 inclusion body GO:0016234 9.63 SNCA LRRK2 HTT
15 growth cone GO:0030426 9.63 TOR1A SNCA PINK1 MAPT LRRK2 FMR1
16 glial cell projection GO:0097386 9.61 MAPT FMR1
17 autolysosome GO:0044754 9.59 LRRK2 FTL
18 neuron projection GO:0043005 9.56 TOR1A TH SLC6A3 PRKN PARK7 MAPT
19 Lewy body GO:0097413 9.55 PRKN PINK1
20 dopaminergic synapse GO:0098691 9.54 SLC6A3 DRD3 DRD2
21 axon GO:0030424 9.36 TH SNCA SLC6A3 PINK1 PARK7 MAPT
22 membrane GO:0016020 10.51 TOR1A SNCA SLC6A3 SGCE PINK1 PARK7
23 cytoplasm GO:0005737 10.34 TOR1A TH SNCA SLC6A3 SGCE PRKN
24 cytosol GO:0005829 10.32 TOR1A TH SNCA PRKN PINK1 PARK7
25 mitochondrion GO:0005739 10.16 TH SNCA PRKN PINK1 PARK7 PANK2
26 cell projection GO:0042995 10.1 TOR1A SGCE MAPT LRRK2 FMR1 DRD3
27 perinuclear region of cytoplasm GO:0048471 10.05 SNCA PRKN PINK1 PARK7 HTT FMR1
28 synapse GO:0045202 10.04 TOR1A SNCA LRRK2 FMR1 ATP1A3

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

(show top 50) (show all 84)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.98 SNCA PRKN PINK1 PARK7
2 response to oxidative stress GO:0006979 9.97 TOR1A PRKN PINK1 LRRK2
3 response to ethanol GO:0045471 9.94 TH SLC6A3 DRD3 DRD2
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.91 SNCA PINK1 PARK7
5 cellular response to oxidative stress GO:0034599 9.91 SNCA PINK1 PARK7 LRRK2
6 mitochondrion organization GO:0007005 9.91 PRKN PINK1 PARK7 LRRK2 GBA
7 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.9 PRKN LRRK2 GBA
8 negative regulation of cell death GO:0060548 9.9 PRKN PARK7 DRD2
9 excitatory postsynaptic potential GO:0060079 9.9 SNCA LRRK2 DRD2
10 regulation of autophagy GO:0010506 9.89 PRKN MAPT LRRK2
11 learning GO:0007612 9.89 TH PRKN DRD3
12 locomotory behavior GO:0007626 9.89 TH SLC6A3 PRKN DRD3 DRD2
13 adult locomotory behavior GO:0008344 9.88 SNCA PRKN PARK7
14 protein destabilization GO:0031648 9.87 SNCA PRKN HTT
15 response to nicotine GO:0035094 9.85 TH SLC6A3 DRD2
16 response to cocaine GO:0042220 9.85 SNCA SLC6A3 DRD3 DRD2
17 autophagy GO:0006914 9.85 PRKN PINK1 PARK7 LRRK2 DRD3 DRD2
18 response to amphetamine GO:0001975 9.82 TH DRD3 DRD2
19 regulation of dopamine secretion GO:0014059 9.82 SNCA PRKN DRD3
20 negative regulation of blood pressure GO:0045776 9.81 GCH1 DRD3 DRD2
21 negative regulation of protein phosphorylation GO:0001933 9.8 SNCA PRKN PARK7 LRRK2 DRD2
22 regulation of reactive oxygen species metabolic process GO:2000377 9.79 SNCA PRKN PINK1
23 regulation of neurotransmitter secretion GO:0046928 9.77 SNCA PRKN FMR1
24 behavioral response to cocaine GO:0048148 9.77 SNCA DRD3 DRD2
25 response to iron ion GO:0010039 9.76 SLC6A3 DRD2
26 negative regulation of protein secretion GO:0050709 9.76 DRD3 DRD2
27 dopamine receptor signaling pathway GO:0007212 9.76 DRD3 DRD2
28 startle response GO:0001964 9.76 PRKN DRD2
29 regulation of protein ubiquitination GO:0031396 9.76 PRKN PINK1
30 regulation of mitochondrion organization GO:0010821 9.76 PRKN PINK1
31 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.76 PRKN PARK7 LRRK2
32 regulation of mitochondrial membrane potential GO:0051881 9.76 PRKN PINK1 PARK7 PANK2
33 positive regulation of proteasomal protein catabolic process GO:1901800 9.75 PRKN FMR1
34 striatum development GO:0021756 9.75 LRRK2 DRD2
35 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.75 PARK7 LRRK2
36 synaptic vesicle transport GO:0048489 9.75 TOR1A SNCA
37 positive regulation of mitochondrial fission GO:0090141 9.75 PRKN PINK1
38 positive regulation of renal sodium excretion GO:0035815 9.75 DRD3 DRD2
39 neurotransmitter biosynthetic process GO:0042136 9.75 TH SLC6A3
40 prepulse inhibition GO:0060134 9.75 SLC6A3 DRD3 DRD2
41 negative regulation of oxidative stress-induced neuron death GO:1903204 9.74 PINK1 PARK7
42 negative regulation of macroautophagy GO:0016242 9.74 PINK1 LRRK2
43 negative regulation of autophagosome assembly GO:1902902 9.74 PINK1 LRRK2
44 cellular response to dopamine GO:1903351 9.74 PRKN LRRK2
45 supramolecular fiber organization GO:0097435 9.74 SNCA MAPT
46 G protein-coupled receptor internalization GO:0002031 9.74 DRD3 DRD2
47 regulation of locomotion GO:0040012 9.74 SNCA LRRK2 DRD3
48 regulation of dopamine metabolic process GO:0042053 9.73 SLC6A3 PRKN
49 adenylate cyclase-inhibiting dopamine receptor signaling pathway GO:0007195 9.73 DRD3 DRD2
50 negative regulation of voltage-gated calcium channel activity GO:1901386 9.73 FMR1 DRD2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.99 PARK7 MAPT LRRK2 GCH1 FMR1 DRD2
2 microtubule binding GO:0008017 9.8 SNCA MAPT LRRK2 FMR1
3 chaperone binding GO:0051087 9.75 PRKN MAPT ATP1A3
4 kinase binding GO:0019900 9.73 PRKN PARK7 HTT
5 enzyme binding GO:0019899 9.72 TH SNCA PRKN PARK7 MAPT
6 drug binding GO:0008144 9.65 SLC6A3 DRD3 DRD2
7 identical protein binding GO:0042802 9.61 SNCA PRKN PARK7 MAPT LRRK2 HTT
8 adrenergic receptor activity GO:0004935 9.58 DRD3 DRD2
9 tubulin binding GO:0015631 9.58 PRKN MAPT LRRK2
10 ubiquitin-specific protease binding GO:1990381 9.57 PRKN PARK7
11 phospholipase binding GO:0043274 9.55 SNCA PRKN
12 dynactin binding GO:0034452 9.54 MAPT HTT
13 ferric iron binding GO:0008199 9.52 TH FTL
14 dopamine neurotransmitter receptor activity, coupled via Gi/Go GO:0001591 9.46 DRD3 DRD2
15 cuprous ion binding GO:1903136 9.37 SNCA PARK7
16 ferrous iron binding GO:0008198 9.33 TH SNCA FTL
17 dopamine neurotransmitter receptor activity GO:0004952 9.26 DRD3 DRD2
18 dopamine binding GO:0035240 8.92 TH SLC6A3 DRD3 DRD2
19 protein binding GO:0005515 10.34 TOR1A TH SNCA SLC6A3 PRKN PINK1

Sources for Movement Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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