MCID: MVM001
MIFTS: 62

Movement Disease

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Movement Disease

MalaCards integrated aliases for Movement Disease:

Name: Movement Disease 11 14
Movement Disorders 53 41 43 71 33
Movement Disorder 28 5 14 16 75

Classifications:



External Ids:

Disease Ontology 11 DOID:480
MeSH 43 D009069
NCIt 49 C116757
SNOMED-CT 68 60342002
UMLS 71 C0026650

Summaries for Movement Disease

MedlinePlus: 41 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 dystonia 11, myoclonic and dystonia 12, and has symptoms including ataxia, tremor and myoclonus. An important gene associated with Movement Disease is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Neuroscience and Rett syndrome causing genes. The drugs Amantadine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and subthalamic nucleus, and related phenotypes are nervous system and homeostasis/metabolism

Disease Ontology: 11 A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.

Wikipedia: 75 Movement disorder refers to any clinical syndrome with either an excess of movement or a paucity of... more...

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 1115)
# Related Disease Score Top Affiliating Genes
1 dystonia 11, myoclonic 32.5 TOR1A SGCE GCH1 ATP1A3
2 dystonia 12 32.5 TOR1A SGCE SCN2A PRKN PINK1 PARK7
3 dystonia 3, torsion, x-linked 32.5 TOR1A SGCE GCH1 ATP1A3
4 parkinson disease, late-onset 32.5 TOR1A SNCA SLC6A3 PRKN PINK1 PARK7
5 parkinsonism 32.4 TOR1A TBC1D24 SNCA SLC6A3 PRKN PINK1
6 essential tremor 32.4 SNCA SLC6A3 PRKN LRRK2 GBA1
7 tremor 32.4 SNCA PRKN LRRK2 LOC106627981 GBA1
8 neurodegeneration with brain iron accumulation 32.4 TOR1A SNCA SLC6A3 PRKN PINK1 PARK7
9 gaucher's disease 32.3 SNCA PRKN PINK1 PARK7 LRRK2 LOC106627981
10 dementia, lewy body 32.2 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
11 cervical dystonia 32.2 TOR1A SLC6A3 SGCE PANK2 GCH1 ATP1A3
12 kuru 32.1 SNCA SCN2A HTT
13 dystonia 32.1 TOR1A TBC1D24 SNCA SLC6A3 SGCE PRKN
14 choreatic disease 32.1 TOR1A SNCA SLC6A3 SGCE PRKN PINK1
15 supranuclear palsy, progressive, 1 32.1 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
16 dystonia 1, torsion, autosomal dominant 32.1 TOR1A SGCE GCH1
17 sleep disorder 31.6 SNCA SLC6A3 LRRK2 GBA1
18 postencephalitic parkinson disease 31.4 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
19 dementia 31.3 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
20 epilepsy 31.3 TBC1D24 SLC6A3 SGCE SCN2A GNAO1 ATP1A3
21 multiple system atrophy 1 31.2 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
22 rem sleep behavior disorder 31.1 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
23 focal dystonia 31.1 TOR1A SLC6A3 SGCE PRKN PANK2 GCH1
24 early infantile epileptic encephalopathy 31.1 TBC1D24 SCN2A GNAO1 CLCN6 ATP1A3
25 kufor-rakeb syndrome 31.0 SNCA PRKN PINK1 PARK7 PANK2 LRRK2
26 hereditary spastic paraplegia 31.0 SNCA PRKN PINK1 PANK2 LRRK2 HTT
27 focal hand dystonia 31.0 TOR1A SGCE GCH1
28 prion disease 31.0 SNCA SCN2A HTT
29 parkinson disease 4, autosomal dominant 31.0 SNCA SLC6A3 GBA1
30 speech disorder 30.9 SLC6A3 LOC106627981 GBA1 CLCN6
31 striatonigral degeneration 30.9 SNCA SLC6A3 LRRK2
32 alternating hemiplegia of childhood 30.9 TOR1A TBC1D24 SGCE SCN2A GCH1 ATP1A3
33 frontotemporal dementia 30.9 SNCA PRKN PINK1 PARK7 LRRK2 HTT
34 benign familial infantile epilepsy 30.9 SCN2A GNAO1 CLCN6 ATP1A3
35 vascular parkinsonism 30.9 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
36 neurodegeneration with brain iron accumulation 1 30.8 TOR1A SNCA PANK2
37 parkinson disease 2, autosomal recessive juvenile 30.8 SNCA PRKN PINK1 PARK7 LRRK2
38 early-onset parkinson's disease 30.7 SNCA SLC6A3 PRKN PINK1 PARK7 PANK2
39 developmental and epileptic encephalopathy 30.7 TBC1D24 SCN2A GNAO1 ATP1A3
40 toxic encephalopathy 30.7 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
41 gaucher disease, type i 30.7 SNCA PRKN PINK1 PARK7 LRRK2 LOC106627981
42 autosomal dominant cerebellar ataxia 30.7 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
43 spasmodic dystonia 30.7 TOR1A SGCE PANK2 GCH1 ATP1A3
44 oromandibular dystonia 30.7 TOR1A SGCE PANK2 GCH1 ATP1A3
45 peripheral nervous system disease 30.7 SNCA SCN2A PRKN PINK1 PARK7 LRRK2
46 blepharospasm 30.7 TOR1A SGCE PANK2 GCH1 ATP1A3
47 segmental dystonia 30.7 TOR1A SGCE GCH1 ATP1A3
48 dystonia, dopa-responsive 30.7 TOR1A SGCE GCH1 ATP1A3
49 machado-joseph disease 30.7 SNCA SLC6A3 PRKN LRRK2 HTT
50 multifocal dystonia 30.7 TOR1A SGCE GCH1 ATP1A3

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:


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

MGI Mouse Phenotypes related to Movement Disease:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.45 ATP1A3 CLCN6 GBA1 GCH1 GNAO1 HTT
2 homeostasis/metabolism MP:0005376 10.41 ATP1A3 BCS1L GBA1 GCH1 GNAO1 HTT
3 growth/size/body region MP:0005378 10.36 ATP1A3 BCS1L GBA1 GCH1 GNAO1 HTT
4 behavior/neurological MP:0005386 10.35 ATP1A3 BCS1L CLCN6 GBA1 GCH1 GNAO1
5 cellular MP:0005384 10.28 BCS1L CLCN6 GBA1 HTT LRRK2 PANK2
6 cardiovascular system MP:0005385 10.14 GBA1 GCH1 GNAO1 HTT LRRK2 PRKN
7 skeleton MP:0005390 9.97 GBA1 GNAO1 HTT LRRK2 PARK7 PINK1
8 hematopoietic system MP:0005397 9.93 ATP1A3 BCS1L GBA1 GNAO1 HTT LRRK2
9 mortality/aging MP:0010768 9.83 ATP1A3 BCS1L GBA1 GCH1 GNAO1 HTT
10 taste/olfaction MP:0005394 9.56 HTT PINK1 SLC6A3 SNCA
11 integument MP:0010771 9.28 ATP1A3 CLCN6 GBA1 GNAO1 HTT LRRK2

Drugs & Therapeutics for Movement Disease

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

(show top 50) (show all 129)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amantadine Approved Phase 4 768-94-5 2130
2
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
3
Iron Approved Phase 4 7439-89-6 29936
4
Cysteine Approved, Nutraceutical Phase 4 52-90-4 594 5862
5 Neurotransmitter Agents Phase 4
6 Dopamine Agents Phase 4
7 Antiparkinson Agents Phase 4
8 Analgesics Phase 4
9 Whey Protein Phase 4
10 Soy Bean Phase 4
11 Anti-Infective Agents Phase 4
12 Antiviral Agents Phase 4
13 Analgesics, Non-Narcotic Phase 4
14 Bifidobacterium Phase 4
15 Acidophilus Phase 4
16 Sulfalene Phase 4
17 Iron Supplement Phase 4
18
Mecobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
19
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 15589840 44475014
20
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
21
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 65-23-6 1054
22
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 24892734 16212801 44176380
23
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
24 Folate Phase 2, Phase 3
25 Vitamins Phase 2, Phase 3
26 Vitamin B9 Phase 2, Phase 3
27 Vitamin B6 Phase 2, Phase 3
28 Trace Elements Phase 2, Phase 3
29 Vitamin B12 Phase 2, Phase 3
30 Vitamin B Complex Phase 2, Phase 3
31 Vitamin B 6 Phase 2, Phase 3
32 Vitamin B 12 Phase 2, Phase 3
33 Micronutrients Phase 2, Phase 3
34 Dopamine agonists Phase 2, Phase 3
35
Pyridoxal Experimental, Nutraceutical Phase 2, Phase 3 66-72-8 1050
36
Entacapone Approved, Investigational Phase 2 130929-57-6 5281081
37
Carbidopa Approved Phase 2 28860-95-9 34359 38101
38
Pramipexole Approved, Investigational Phase 2 104632-26-0, 104632-25-9, 104632-28-2 4885 119570 59868
39
Metformin Approved Phase 2 1115-70-4, 657-24-9 4091
40
Istradefylline Approved, Investigational Phase 2 155270-99-8 198792 5311037
41
Adenosine Approved, Investigational Phase 2 58-61-7 60961
42
Levodopa Approved Phase 2 59-92-7, 63-84-3 6047
43
Ketamine Approved, Vet_approved Phase 2 6740-88-1, 1867-66-9 3821
44
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
45
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
46
Midazolam Approved, Illicit Phase 2 59467-70-8 4192
47
Haloperidol Approved Phase 2 52-86-8 3559
48
Propranolol Approved, Investigational Phase 2 318-98-9, 525-66-6 62882 4946
49
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
50
Aspartic acid Approved, Nutraceutical Phase 2 56-84-8 5960

Interventional clinical trials:

(show top 50) (show all 229)
# Name Status NCT ID Phase Drugs
1 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
2 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
3 Role and Mechanism of Bifidobacterium Triple Viable Capsules in Improving Motor Symptoms in Patients With Mild to Moderate Parkinson's Disease: a Multicenter Randomized Clinical Study Recruiting NCT04871464 Phase 4 Live Combined Bifidobacterium,Lactobacillus and Enterococcus Capsules
4 Optimum Frequency and Timing of Oral Iron Administration for Childhood Restless Leg Syndrome/Periodic Limb Movement Disorder Enrolling by invitation NCT04610827 Phase 4 Ferrous sulfate
5 Effectiveness of Vojta Therapy in Motor Development of Preterm Children Unknown status NCT01838278 Phase 3
6 Effect of Vitamin B6 and B12 in the Treatment of Movement Disorders Induced by Antipsychotics Unknown status NCT03790345 Phase 2, Phase 3 Pyridoxine;Cobalamin;Placebo Oral Tablet
7 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
8 A Phase 3, Randomized, Double-blind, Placebo-controlled, Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Terminated NCT02960217 Phase 3 UX007;Placebo
9 Improving Treatment of People With Movement Disorders in the Middle East Unknown status NCT01466296 Phase 2
10 Multicenter, Randomized Trial on the Effects of Pallidal Deep Brain Stimulation for Tardive Dystonia Unknown status NCT00331669 Phase 2
11 Phase 1-2, Randomised, Double-Blind, Placebo Controlled, Safety and Tolerability Study of Intraputamenal Cerebral Dopamine Neurotrophic Factor (CDNF) Infusions Via an Investigational Drug Delivery System to Patients With Parkinson's Disease Completed NCT03295786 Phase 1, Phase 2 Cerebral Dopamine Neurotrophic Factor
12 A Phase 2, 36-Week, Open-Label, Uncontrolled Safety Follow-up Study Assessing SCH 420814 (Preladenant) 5 mg BID (P05175) Completed NCT00537017 Phase 2 Preladenant;L-dopa;Other Parkinson's Disease treatments
13 A Randomised, Double-Blind, Multi-centre, Active Treatment, Extension and Safety Study for Patients With Idiopathic Parkinson's Disease (PD) Who Previously Completed the CDNF/DDS Main Study HP-CD-CL-2002 Completed NCT03775538 Phase 1, Phase 2 Cerebral Dopamine Neurotrophic Factor
14 A Randomized, Double Blind, Placebo-Controlled, Crossover, Proof of Concept Study to Evaluate the Effectiveness and Safety of Carisbamate in the Treatment of Essential Tremor Completed NCT00524056 Phase 2 Carisbamate;Placebo
15 A Phase 2, 12-Week, Double-Blind, Dose-Finding, Placebo-Controlled Study to Assess the Efficacy and Safety of a Range of SCH 420814 Doses in Subjects With Moderate to Severe Parkinson's Disease Experiencing Motor Fluctuations and Dyskinesias Completed NCT00406029 Phase 2 Preladenant;Placebo;L-dopa;Other Parkinson's Disease treatments
16 Impact of Running Poles on Older Adult Exercise Walking Completed NCT00037167 Phase 1, Phase 2
17 Effects of Talampanel on Patients With Advanced Parkinson's Disease Who Have Been on Sinemet for More Than 5 Years and Have Dyskinesia (Abnormal Involuntary Movements) Completed NCT00036296 Phase 1, Phase 2 talampanel
18 Heart Rate Variability in Response to Metformin Challenge Completed NCT02500628 Phase 2 Metformin
19 NMDA-Receptor Blockade With Eliprodil in Parkinson's Disease Completed NCT00001929 Phase 2 Eliprodil
20 Robot Therapy for Rehabilitation of Hand Movement After Stroke Completed NCT04536987 Phase 2
21 An Open-label Treatment Study to Evaluate the Safety, Tolerability and Efficacy of AFQ056 in Parkinson's Patients With L-dopa Induced Dyskinesias Completed NCT01491932 Phase 2 AFQ056
22 12-week, Double-blind, Placebo-controlled, Fixed-dose, Multicenter Study to Evaluate the Efficacy and Safety of AFQ056 in Reducing Moderate to Severe L-dopa Induced Dyskinesias in Patients With Parkinson's Disease Completed NCT01385592 Phase 2 AFQ056;Placebo
23 13-week, Double-blind, Placebo-controlled, Fixed-dose, Multicenter Study to Evaluate the Efficacy and Safety of Modified Release AFQ056 in Reducing Moderate to Severe L-dopa Induced Dyskinesias in Patients With Parkinson's Disease Completed NCT01491529 Phase 2 AFQ056;Placebo
24 A Phase 2, Double-blind, Placebo-controlled, Randomized, Parallel-Group, Multicenter Study to Evaluate the Efficacy and Safety of 40mg/Day KW-6002 (Istradefylline) as Monotherapy in Subjects With Parkinson's Disease Completed NCT00199433 Phase 2 Istradefylline (KW-6002)
25 Phase II Trial of Non-Invasive Intermittent Theta Burst Stimulation of the Dorsolateral Prefrontal Cortex in Functional Movement Disorders Recruiting NCT05155059 Phase 2
26 A Long-Term Follow-up Safety Study for Patients With Idiopathic Parkinson's Disease (PD) Implanted With the DDS and/or Who Received Treatment in the Main Study and/or Extension Study Active, not recruiting NCT04228653 Phase 1, Phase 2
27 An Open-label Multicenter Phase 2 Dose-evaluation Study of Altropane (123I) Injection for Striatal Dopamine Transporter Visualization Using SPECT Brain Imaging Not yet recruiting NCT05636852 Phase 2 Altropane (123I) Injection
28 A Multi-Center, Phase II, Randomized, Double-Blind, Prospective, Active Placebo- Controlled Trial of Sub-Anesthetic Intravenous Infusion of Ketamine to Treat Levodopa- Induced Dyskinesia in Subjects With Parkinson's Disease Suspended NCT04912115 Phase 2 Ketamine;Midazolam
29 Efficacy of SCH 420814 to Reduce the Frequency or Severity of Neuroleptic Induced Akathisia Terminated NCT00693472 Phase 2 Preladenant;Placebo;Anticholinergic agents or propanolol;Haloperidol
30 An Open-label Safety and Efficacy Study of VY-AADC01 Administered by MRI-Guided Convective Infusion Using a Posterior Trajectory Into the Putamen of Participants With Parkinson's Disease With Fluctuating Responses to Levodopa Completed NCT03065192 Phase 1 VY-AADC01
31 MR-Guided Functional Ultrasound-Neurosurgery for Movement Disorders Completed NCT01698450 Phase 1
32 Neuroleptic Induced Movement Disorders in Older Patients Completed NCT00255879 Phase 1 Quetiapine;Risperidone;Olanzapine
33 Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation Completed NCT00001663 Phase 1
34 Development of a Robotic Ankle Assist Device to Improve Mobility in Individuals With Movement Disorders Recruiting NCT04516343 Phase 1
35 Buspirone, in Combination With Amantadine, for the Treatment of Levodopa-induced Dyskinesia Terminated NCT02589340 Phase 1 Buspirone;Placebo
36 The Movement Pattern of Shoulder Complex and the Intervention Effects of Therapeutic Exercise in Patients With Proximal Humerus Fracture Unknown status NCT04176692
37 Clinical Trial of Surface EMG Biofeedback for Children With Cerebral Palsy and Associated Movement Disorders Unknown status NCT01681888
38 Mobile Parkinson Observatory for Worldwide, Evidence-based Research (mPower) Unknown status NCT02696603
39 Validation of DaTscan for Detection of Parkinsonian Disease and Related Disorders Using Neuropathologically-confirmed Parkinson Disease From Human Brain Tissue Unknown status NCT02138682 l-123 Ioflupane
40 Metabotropic Receptors For Glutamate Type 3 In Parkinson's Disease: Clinical And Neurophysiological Correlations Unknown status NCT03998787
41 Changes of the Neuronal Activity in the Subthalamic Nucleus Under Propofol Sedation During Stereotactic Electrode Implantation. Unknown status NCT00355927
42 Müller's Muscle as a New Proprioceptive Organ Evidence From Immunohistochemical Staining and Electron Microscopy to Verify That the Upper Eyelid Müller's Muscle Contains Proprioceptive Innervation for Reflexive Correction of Eyelid Position Unknown status NCT03396627
43 Assessment of Movement Skills in Autism Spectrum Disorder Unknown status NCT03613051
44 Changes of the Neuronal Activity in the Subthalamic Nucleus Under Remifentanil Sedation During Stereotactic Electrode Implantation Unknown status NCT00588926 Remifentanil
45 Local Field Potential Correlates of Motor Behavior and Pathological Signs in Movement Disorders for Development of Closed Loop Stimulation Systems Unknown status NCT02115802
46 The Role of Probiotics PS128 in Movement Disorders Unknown status NCT03259971
47 Systems Medicine of Mitochondrial and Biochemical Parkinson's Disease and Other Related Movement Disorders Unknown status NCT03421899
48 Deep Brain Stimulation in the Treatment of Intractable Movement Disorders ( Parkinson's Disease, Essential Tremors and Dystonia) Unknown status NCT03562403
49 The Development of an Artificial Intelligence Platform for Screening and Referral of Cognitive Dysfunction Unknown status NCT04236375
50 Periodic Limb Movement Syndrome in Patients With Cerebral Small Vessel Disease: a Clinical and Neuropsychological Study. Unknown status NCT04569643

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 Movement Disorder 28

Anatomical Context for Movement Disease

Organs/tissues related to Movement Disease:

MalaCards : Brain, Spinal Cord, Subthalamic Nucleus, Globus Pallidus, Prefrontal Cortex, Cortex, Eye

Publications for Movement Disease

Articles related to Movement Disease:

(show top 50) (show all 19063)
# Title Authors PMID Year
1
Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells. 62 41
36330921 2022
2
Characterization of Infants' General Movements Using a Commercial RGB-Depth Sensor and a Deep Neural Network Tracking Processing Tool: An Exploratory Study. 62 41
36236525 2022
3
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
4
Two-point discrimination responses in children with idiopathic toe walking: A feasibility fMRI study. 41
36373762 2022
5
Coexisting huntingtin and SCA8 repeat expansion: case report of a severe complex neurodegenerative syndrome. 53 62
20403608 2010
6
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. 53 62
20053375 2010
7
TorsinA and DYT1 dystonia: a synaptopathy? 53 62
20298201 2010
8
Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia. 53 62
19566901 2010
9
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. 53 62
20006850 2010
10
Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene. 53 62
19147379 2009
11
Mutant huntingtin impairs vesicle formation from recycling endosomes by interfering with Rab11 activity. 53 62
19752198 2009
12
Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and not involved in ATP7B mutation. 53 62
19572946 2009
13
Improved behavioral response as a valid biomarker for drug screening program in transgenic rodent models of tauopathies. 53 62
19283467 2009
14
Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family. 53 62
19506430 2009
15
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 53 62
19478460 2009
16
TorsinA and dystonia: from nuclear envelope to synapse. 53 62
19457118 2009
17
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. 53 62
19388150 2009
18
A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency. 53 62
19231266 2009
19
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. 53 62
19205068 2009
20
A common variant in DRD3 receptor is associated with autism spectrum disorder. 53 62
19058789 2009
21
Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. 53 62
18571946 2009
22
Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease. 53 62
18638039 2009
23
Is malfunction of the ubiquitin proteasome system the primary cause of alpha-synucleinopathies and other chronic human neurodegenerative disease? 53 62
18976704 2008
24
Chronic, low-dose rotenone reproduces Lewy neurites found in early stages of Parkinson's disease, reduces mitochondrial movement and slowly kills differentiated SH-SY5Y neural cells. 53 62
19114014 2008
25
[Glucose transporter type 1 (GLUT-1) deficiency]. 53 62
18808765 2008
26
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. 53 62
18704525 2008
27
Myoclonus-dystonia due to maternal uniparental disomy. 53 62
18852357 2008
28
Comparison between a dual-head and a brain-dedicated SPECT system in the measurement of the loss of dopamine transporters with [123I]FP-CIT. 53 62
18283454 2008
29
Clinical use of dopamine transporter imaging in movement disorders: benefits of appropriate use. 53 62
18425514 2008
30
Cortical excitability in DYT-11 positive myoclonus dystonia. 53 62
18265016 2008
31
Myoclonus-dystonia: significance of large SGCE deletions. 53 62
18205193 2008
32
[Clinical and pathological study on early diagnosis of Parkinson's disease and dementia with Lewy bodies]. 53 62
18386627 2008
33
Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia. 53 62
18044725 2008
34
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. 53 62
17702043 2007
35
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. 53 62
18058633 2007
36
Reduced platelet vesicular monoamine transporter density in Tourette's syndrome pediatric male patients. 53 62
17344033 2007
37
Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration. 53 62
17429753 2007
38
Dopamine transporter binding in smokers and nonsmokers. 53 62
17515751 2007
39
[A stiff-legged man with a bizarre gait]. 53 62
17566229 2007
40
Initial clinical experience with [123I]ioflupane scintigraphy in movement disorders. 53 62
17398272 2007
41
Progression of tremor and ataxia in male carriers of the FMR1 premutation. 53 62
17133502 2007
42
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? 53 62
17105745 2007
43
Impact of bilateral pallidal stimulation on DYT1-generalized dystonia in Japanese patients. 53 62
16830314 2006
44
Size bias of fragile X premutation alleles in late-onset movement disorders. 53 62
16723388 2006
45
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. 53 62
16962235 2006
46
Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder. 53 62
16822677 2006
47
Parkinson's disease: a rethink of rodent models. 53 62
16639500 2006
48
Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice. 53 62
16815860 2006
49
Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? 53 62
16769864 2006
50
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. 53 62
16227522 2006

Variations for Movement Disease

ClinVar genetic disease variations for Movement Disease:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCS1L NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) SNV Pathogenic
Pathogenic
625207 rs369691608 GRCh37: 2:219525978-219525978
GRCh38: 2:218661255-218661255
2 BCS1L NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp) SNV Pathogenic
Pathogenic
625208 rs375876694 GRCh37: 2:219526539-219526539
GRCh38: 2:218661816-218661816
3 CLCN6 NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys) SNV Pathogenic
974617 rs1644918844 GRCh37: 1:11894424-11894424
GRCh38: 1:11834367-11834367
4 RAB3GAP1 NM_012233.3(RAB3GAP1):c.151-5T>G SNV Pathogenic
996741 rs1690127143 GRCh37: 2:135848563-135848563
GRCh38: 2:135090993-135090993
5 TBC1D24 NM_001199107.2(TBC1D24):c.901C>T (p.Gln301Ter) SNV Likely Pathogenic
812998 rs1596969013 GRCh37: 16:2547050-2547050
GRCh38: 16:2497049-2497049
6 TBC1D24 NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) SNV Likely Pathogenic
207501 rs796053400 GRCh37: 16:2546754-2546754
GRCh38: 16:2496753-2496753
7 SCN2A NM_001040142.2(SCN2A):c.1270G>T (p.Val424Leu) SNV Likely Pathogenic
812987 rs1574567728 GRCh37: 2:166170505-166170505
GRCh38: 2:165313995-165313995
8 GNAO1 NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) SNV Likely Pathogenic
265350 rs886039494 GRCh37: 16:56370674-56370674
GRCh38: 16:56336762-56336762
9 LOC106627981, GBA1 NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) SNV Risk Factor
4288 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
10 PDZD4 NM_001303512.2(PDZD4):c.10_16del (p.Asn4fs) DEL Uncertain Significance
1710147 GRCh37: X:153095738-153095744
GRCh38: X:153830283-153830289
11 ITPR1 NM_001378452.1(ITPR1):c.2477C>T (p.Ser826Phe) SNV Uncertain Significance
523421 rs1553686424 GRCh37: 3:4715906-4715906
GRCh38: 3:4674222-4674222
12 TUBA1A NM_006009.4(TUBA1A):c.455T>A (p.Leu152Gln) SNV Uncertain Significance
381536 rs1057521063 GRCh37: 12:49579694-49579694
GRCh38: 12:49185911-49185911

Copy number variations for Movement Disease from CNVD:

6
# 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

Expression for Movement Disease

Search GEO for disease gene expression data for Movement Disease.

Pathways for Movement Disease

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

# Super pathways Score Top Affiliating Genes
1 12.14 TOR1A SNCA SCN2A PRKN PINK1 PARK7
2 11.11 SCN2A HTT GNAO1
3 10.97 TOR1A SNCA SLC6A3 PRKN PARK7
4 10.68 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2

GO Terms for Movement Disease

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

# Name GO ID Score Top Affiliating Genes
1 growth cone GO:0030426 10.01 TOR1A SNCA PINK1 LRRK2
2 postsynapse GO:0098794 9.98 SNCA RAB3GAP1 LRRK2 ATP1A3
3 cell projection GO:0042995 9.91 TOR1A TBC1D24 SNCA SLC6A3 SGCE PRKN
4 synapse GO:0045202 9.86 ATP1A3 LRRK2 PARK7 PRKN SNCA TBC1D24
5 Lewy body GO:0097413 9.62 PRKN PINK1
6 axon GO:0030424 9.53 SNCA SLC6A3 SCN2A PINK1 PARK7 LRRK2
7 inclusion body GO:0016234 9.43 SNCA LRRK2 HTT
8 obsolete integral component of presynaptic membrane GO:0099056 9.33 SLC6A3 SCN2A ATP1A3

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 10.21 SNCA PRKN PINK1 PARK7 GBA1
2 cellular response to oxidative stress GO:0034599 10.19 LRRK2 PARK7 PINK1 SNCA
3 response to oxidative stress GO:0006979 10.16 TOR1A PRKN PINK1 PARK7 LRRK2
4 autophagy GO:0006914 10.14 GBA1 LRRK2 PARK7 PINK1 PRKN
5 adult locomotory behavior GO:0008344 10.13 PARK7 PRKN SNCA
6 protein destabilization GO:0031648 10.11 SNCA PRKN HTT
7 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 10 PRKN PARK7 LRRK2
8 regulation of dopamine metabolic process GO:0042053 9.97 SLC6A3 PRKN
9 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.97 PARK7 LRRK2
10 regulation of cellular response to oxidative stress GO:1900407 9.97 PRKN PINK1
11 regulation of reactive oxygen species metabolic process GO:2000377 9.97 SNCA PRKN PINK1
12 cellular response to manganese ion GO:0071287 9.96 PRKN LRRK2
13 protein localization to mitochondrion GO:0070585 9.96 PRKN LRRK2
14 cellular response to toxic substance GO:0097237 9.96 PRKN PINK1
15 regulation of protein targeting to mitochondrion GO:1903214 9.95 PRKN PINK1
16 mitophagy GO:0000423 9.95 PRKN PINK1 GBA1
17 regulation of locomotion GO:0040012 9.94 SNCA LRRK2
18 positive regulation of histone deacetylase activity GO:1901727 9.93 PINK1 LRRK2
19 positive regulation of synaptic vesicle endocytosis GO:1900244 9.93 TOR1A LRRK2
20 mitochondrion organization GO:0007005 9.93 BCS1L GBA1 LRRK2 PARK7 PINK1 PRKN
21 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.92 PINK1 PRKN
22 regulation of mitochondrial membrane potential GO:0051881 9.92 PRKN PINK1 PARK7 PANK2
23 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.91 PRKN PARK7
24 positive regulation of protein lipidation GO:1903061 9.91 RAB3GAP1 GBA1
25 dopamine biosynthetic process GO:0042416 9.91 SNCA SLC6A3 GCH1
26 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 9.9 PINK1 PARK7
27 mitochondrion to lysosome transport GO:0099074 9.89 PRKN PINK1
28 negative regulation of oxidative stress-induced neuron death GO:1903204 9.89 TBC1D24 PINK1 PARK7
29 regulation of CAMKK-AMPK signaling cascade GO:1905289 9.88 LRRK2 HTT
30 negative regulation of oxidative stress-induced cell death GO:1903202 9.88 PRKN PINK1 PARK7
31 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.86 PINK1 PARK7
32 positive regulation of autophagy of mitochondrion GO:1903599 9.85 HTT PARK7 PRKN
33 positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization GO:1904925 9.79 PINK1 GBA1
34 regulation of synaptic vesicle transport GO:1902803 9.73 PRKN PINK1 LRRK2
35 negative regulation of neuron death GO:1901215 9.7 SNCA PRKN PINK1 PARK7 LRRK2 GBA1
36 synaptic transmission, dopaminergic GO:0001963 9.65 PARK7 PRKN SNCA
37 dopamine uptake involved in synaptic transmission GO:0051583 9.23 SNCA SLC6A3 PRKN PARK7

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.85 SLC6A3 PRKN PINK1 PARK7 GCH1
2 nucleotide binding GO:0000166 9.28 TOR1A PINK1 PANK2 LRRK2 GNAO1 GCH1
3 cuprous ion binding GO:1903136 9.26 SNCA PARK7

Sources for Movement Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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