MCID: BSL008
MIFTS: 43

Basal Ganglia Disease

Categories: Neuronal diseases

Aliases & Classifications for Basal Ganglia Disease

MalaCards integrated aliases for Basal Ganglia Disease:

Name: Basal Ganglia Disease 12 15 17
Basal Ganglia Diseases 75 44 72
Abnormality of the Basal Ganglia 6
Basal Ganglia Disorders 55

Classifications:



External Ids:

Disease Ontology 12 DOID:679
MeSH 44 D001480
SNOMED-CT 68 70835005
UMLS 72 C0004782

Summaries for Basal Ganglia Disease

Disease Ontology : 12 A brain disease that is characterized by dysfunctional movement, located in basal ganglia with material basis in diseased components of the basal ganglia and associated neural circuits.

MalaCards based summary : Basal Ganglia Disease, also known as basal ganglia diseases, is related to thiamine metabolism dysfunction syndrome 2 and basal ganglia calcification. An important gene associated with Basal Ganglia Disease is IFIH1 (Interferon Induced With Helicase C Domain 1), and among its related pathways/superpathways are NRF2 pathway and Vitamin digestion and absorption. The drugs Soy Bean and Whey Protein have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and subthalamic nucleus, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 75 Basal ganglia disease is a group of physical problems that occur when the group of nuclei in the brain... more...

Related Diseases for Basal Ganglia Disease

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

(showing 93, show less)
# Related Disease Score Top Affiliating Genes
1 thiamine metabolism dysfunction syndrome 2 33.4 SLC5A6 SLC19A3 GCH1
2 basal ganglia calcification 30.2 XPR1 THAP1 SLC20A2 PDGFRB PDGFB
3 dystonia 3, torsion, x-linked 29.3 THAP1 GCH1
4 dystonia 29.1 THAP1 SLC20A2 SLC19A3 GCH1 FTL
5 biotin-thiamine-responsive basal ganglia disease 13.0
6 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.8
7 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.4
8 pettigrew syndrome 12.4
9 early-onset parkinsonism-intellectual disability syndrome 12.2
10 neurodegeneration with brain iron accumulation 3 12.1
11 encephalopathy due to defective mitochondrial and peroxisomal fission 2 11.4
12 neurodegeneration with brain iron accumulation 8 11.2
13 biotin deficiency 10.5 SLC5A6 SLC19A3
14 encephalopathy 10.5
15 chorea, childhood-onset, with psychomotor retardation 10.2
16 choreatic disease 10.2
17 dysphagia 10.2
18 leigh syndrome 10.1
19 autosomal recessive disease 10.1
20 huntington disease 10.1
21 kearns-sayre syndrome 10.1
22 obsessive-compulsive disorder 10.0
23 waisman syndrome 10.0
24 supranuclear palsy, progressive, 1 10.0
25 encephalitis 10.0
26 ocular motor apraxia 10.0
27 spastic quadriplegia 10.0
28 visual epilepsy 10.0
29 locked-in syndrome 10.0
30 quadriplegia 10.0
31 movement disease 10.0
32 seizure disorder 10.0
33 tremor 10.0
34 focal hand dystonia 10.0 THAP1 PDGFB
35 central nervous system lymphoma 9.9
36 liver cirrhosis 9.9
37 toxoplasmosis 9.9
38 primary central nervous system lymphoma 9.9
39 multiple system atrophy 1 9.9
40 strabismus 9.9
41 ataxia and polyneuropathy, adult-onset 9.9
42 aging 9.9
43 aceruloplasminemia 9.9
44 sydenham chorea 9.9
45 restless legs syndrome 9.9
46 hereditary ataxia 9.9
47 postencephalitic parkinson disease 9.9
48 tic disorder 9.9
49 antiphospholipid syndrome 9.9
50 von economo's disease 9.9
51 subacute delirium 9.9
52 mechanical strabismus 9.9
53 lingual-facial-buccal dyskinesia 9.9
54 autoimmune encephalitis 9.9
55 rare surgical neurologic disease 9.9
56 stiff-person syndrome 9.8
57 choreoacanthocytosis 9.8
58 cerebellar hypoplasia 9.8
59 succinic semialdehyde dehydrogenase deficiency 9.8
60 kawasaki disease 9.8
61 alacrima, achalasia, and mental retardation syndrome 9.8
62 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.8
63 aphasia 9.8
64 neurodegeneration with brain iron accumulation 9.8
65 hemiplegia 9.8
66 respiratory failure 9.8
67 dementia 9.8
68 megaloblastic anemia 9.8
69 facial paralysis 9.8
70 autosomal dominant cerebellar ataxia 9.8
71 neuroleptic malignant syndrome 9.8
72 neuroaxonal dystrophy 9.8
73 cerebellar disease 9.8
74 neurotic disorder 9.8
75 essential tremor 9.8
76 inherited metabolic disorder 9.8
77 hereditary dystonia 9.8
78 athetosis 9.8
79 depression 9.8
80 hypotonia 9.8
81 spasticity 9.8
82 paroxysmal dystonia 9.8
83 neurometabolic disease 9.8
84 connective tissue benign neoplasm 9.8 PTH PDGFRB
85 oromandibular dystonia 9.7 THAP1 GCH1
86 segmental dystonia 9.7 THAP1 GCH1
87 blepharospasm 9.7 THAP1 GCH1
88 dystonia 12 9.6 THAP1 GCH1
89 hemidystonia 9.5 THAP1 GCH1
90 cervical dystonia 9.5 THAP1 GCH1
91 primary familial brain calcification 9.4 XPR1 SLC20A2 PDGFRB PDGFB
92 dystonia 11, myoclonic 9.4 THAP1 GCH1
93 dystonia, dopa-responsive 9.2 THAP1 GCH1

Graphical network of the top 20 diseases related to Basal Ganglia Disease:



Diseases related to Basal Ganglia Disease

Symptoms & Phenotypes for Basal Ganglia Disease

MGI Mouse Phenotypes related to Basal Ganglia Disease:

46 (showing 6, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 ADORA2A AP1S2 CRAT IFIH1 PDGFB PDGFRB
2 homeostasis/metabolism MP:0005376 10 ADORA2A AP1S2 CRAT GCH1 IFIH1 PDGFB
3 cardiovascular system MP:0005385 9.97 ADORA2A CRAT GCH1 PDGFB PDGFRB PTH
4 immune system MP:0005387 9.81 ADORA2A IFIH1 PDGFB PDGFRB PTH SLC19A3
5 liver/biliary system MP:0005370 9.43 IFIH1 PDGFB SLC19A3 SLC20A2 SLC5A6 THAP1
6 nervous system MP:0003631 9.28 ADORA2A AP1S2 GCH1 PDGFB PDGFRB SLC19A3

Drugs & Therapeutics for Basal Ganglia Disease

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

(showing 53, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Soy Bean Phase 4
2 Whey Protein Phase 4
3 cysteine Phase 4
4
Aripiprazole Approved, Investigational Phase 3 129722-12-9 60795
5 Serotonin Receptor Agonists Phase 3
6 Serotonin 5-HT2 Receptor Antagonists Phase 3
7 Antidepressive Agents Phase 3
8 Serotonin Antagonists Phase 3
9 Serotonin 5-HT1 Receptor Agonists Phase 3
10 Serotonin Agents Phase 3
11 Dopamine Antagonists Phase 3
12 Dopamine D2 Receptor Antagonists Phase 3
13
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
14
Sodium citrate Approved, Investigational Phase 2 68-04-2
15
Caffeine Approved Phase 2 58-08-2 2519
16
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
17
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
18 Neurotransmitter Agents Phase 2
19 Central Nervous System Stimulants Phase 2
20 Citrate Phase 2
21 Purinergic P1 Receptor Antagonists Phase 2
22 Phosphodiesterase Inhibitors Phase 2
23 Caffeine citrate Phase 2
24 Dopa Decarboxylase Phase 1, Phase 2
25 Dihydroxyphenylalanine Phase 1, Phase 2
26 Antiparkinson Agents Phase 1, Phase 2
27
tannic acid Approved Phase 1 1401-55-4
28
Benzocaine Approved, Investigational Phase 1 94-09-7, 1994-09-7 2337
29
Levodopa Approved Phase 1 59-92-7 6047
30
Coal tar Approved 8007-45-2
31
Risperidone Approved, Investigational 106266-06-2 5073
32
Dopamine Approved Early Phase 1 51-61-6, 62-31-7 681
33
Trihexyphenidyl Approved Early Phase 1 144-11-6, 58947-95-8 5572
34
Pramipexole Approved, Investigational Early Phase 1 104632-26-0 59868 119570
35 Quetiapine Fumarate 111974-72-2
36 Keratolytic Agents
37 Dermatologic Agents
38 Cardiotonic Agents
39 Sympathomimetics
40 Peripheral Nervous System Agents
41 Autonomic Agents
42 Tranquilizing Agents Early Phase 1
43 Dopamine Agents Early Phase 1
44 Central Nervous System Depressants Early Phase 1
45 Antipsychotic Agents Early Phase 1
46 Psychotropic Drugs Early Phase 1
47 Dopamine agonists Early Phase 1
48 Antioxidants Early Phase 1
49 Cholinergic Agents Early Phase 1
50 Muscarinic Antagonists Early Phase 1
51 Cholinergic Antagonists Early Phase 1
52 Protective Agents Early Phase 1
53 Deoxyglucose

Interventional clinical trials:

(showing 22, show less)
# 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 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
3 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
4 A Phase II, Randomized, Double-Blind, Placebo-Controlled, Dose Response Study of the Efficacy, Safety and Tolerability of Fipamezole as an Oromucosal Fast Dissolving Tablet in the Treatment of Parkinson's Disease Patients. Completed NCT00559871 Phase 2 fipamezole
5 Caffeine for Motor Manifestations of Parkinson's Disease: An Open-Label Dose-Response Study. Completed NCT01190735 Phase 2 Caffeine alkaloid
6 Phase 2 Safety and Efficacy Study Evaluating Glutamic Acid Decarboxylase Gene Transfer to Subthalamic Nuclei in Subjects With Advanced Parkinson's Disease Terminated NCT00643890 Phase 2
7 A Phase I /II Study of Intra-putaminal Infusion of Adeno-Associated Virus Encoding Human Aromatic L-Amino Acid Decarboxylase in Subjects With Parkinson's Disease Terminated NCT02418598 Phase 1, Phase 2
8 A Phase 1b, Open-label, Parallel-group Study in Subjects With Huntington Disease to Assess the Safety, Tolerability, and Fed/Fasted Pharmacokinetics of Repeated Oral Doses of SEN0014196 Completed NCT01485965 Phase 1 SEN0014196
9 An Exploratory Clinical Trial in Early Stage Huntington's Disease Patients to Assess Pharmacokinetics, Candidate Pharmacodynamic Measures of Target Engagement and Disease Modulation as Well as Acute Phenotypical Effects Following Multiple Oral Doses of SEN0014196. Completed NCT01485952 Phase 1 SEN0014196 (Low Dose);SEN0014196 (High Dose);Placebo
10 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 Active, not recruiting NCT03065192 Phase 1 VY-AADC01
11 Recording of Gait and Speech Related Neurophysiological Parameters With an Implantable Bi-directional Deep Brain Stimulation System in Parkinson's Disease Unknown status NCT01905995
12 Extrapyramidal Side-Effects in Antipsychotic Drug Therapeutics Unknown status NCT02366897
13 Exploratory Study of Different Doses of Endurance Exercise in People With Parkinson Disease Completed NCT01506479
14 GENomic Biomarkers for PARKinson's Disease Completed NCT00465790
15 Role of the Cortico-basal Ganglia Loops in Visual Attention: Effects of Dopaminergic and Subthalamic Nucleus Stimulation in Parkinson's Disease Completed NCT01135407
16 Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea: a Prospective, Observational Study Recruiting NCT04023656
17 A Prospective Randomized Controlled Trial of Bilateral Pallidal Stimulation in Patients With Advanced Parkinson's Disease With Motor Complications and Relative or Absolute Contraindications for Subthalamic Stimulation Recruiting NCT02823158
18 Combined Stimulation of Subthalamic Nucleus and Substantia Nigra Pars Reticulata for Dysphagia: A Randomized Controlled Multicenter Trial Recruiting NCT03470324
19 Mobile Parkinson Observatory for Worldwide, Evidence-based Research (mPower) Recruiting NCT02696603
20 a Pilot Study of Pramipexole to Treat Extrapyramidal Symptoms Induced by Antipsychotics Not yet recruiting NCT03430596 Early Phase 1 Pramipexole;Trihexyphenidyl hydrochloride
21 Regional Cerebral Utilization of Glucose in Patients With a Diagnosis of Frontal Lobe Dementia, Atypical Parkinsonian Disorder, and Other Basal Ganglia Disorders Terminated NCT00001178
22 Treating Sleep Wake Cycle Disturbances in Basal Ganglia Neurodegenerative Disorder Subjects With Ramelteon- A Double Blind, Placebo Controlled Trial Withdrawn NCT00907595 Ramelteon;Placebo

Search NIH Clinical Center for Basal Ganglia Disease

Cochrane evidence based reviews: basal ganglia diseases

Genetic Tests for Basal Ganglia Disease

Anatomical Context for Basal Ganglia Disease

MalaCards organs/tissues related to Basal Ganglia Disease:

41
Brain, Cortex, Subthalamic Nucleus, Cerebellum, Eye, Prefrontal Cortex

The Foundational Model of Anatomy Ontology organs/tissues related to Basal Ganglia Disease:

19
Basal Ganglia

Publications for Basal Ganglia Disease

Articles related to Basal Ganglia Disease:

(showing 189, show less)
# Title Authors PMID Year
1
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease. 38
31404531 2019
2
A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy. 38
30770860 2019
3
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature. 38
31061755 2019
4
[Paroxysmal crying and motor regression for more than two months in an infant]. 38
31014436 2019
5
[Speech and Language Disorders in the Elderly]. 38
30536283 2018
6
Increased risk of diseases of the basal ganglia and cerebellum in patients with a history of attention-deficit/hyperactivity disorder. 38
30209407 2018
7
Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease? 38
30054086 2018
8
Biotin-Thiamine-Responsive Basal Ganglia Disease-A Treatable Metabolic Disorder. 38
30119991 2018
9
Histamine Excites Striatal Dopamine D1 and D2 Receptor-Expressing Neurons via Postsynaptic H1 and H2 Receptors. 38
29498008 2018
10
[Biotin-thiamine-responsive basal ganglia disease]. 38
29886612 2018
11
Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin? 38
29089396 2018
12
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review. 38
28962040 2018
13
Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients. 38
29715184 2018
14
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings. 38
29101630 2018
15
Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance. 38
29770345 2018
16
Functions and dysfunctions of the basal ganglia in humans. 38
30078828 2018
17
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. 38
28696212 2017
18
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data. 38
28402605 2017
19
Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment. 38
27905264 2017
20
Temporal Discrimination: Mechanisms and Relevance to Adult-Onset Dystonia. 38
29234300 2017
21
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease. 38
28677371 2017
22
Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease. 38
28944253 2017
23
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism. 38
27841215 2016
24
Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome. 38
27574709 2016
25
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? 38
27749535 2016
26
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy. 38
26975589 2016
27
Teaching NeuroImages: Biotin-responsive basal ganglia disease. 38
27164647 2016
28
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. 38
26783368 2016
29
Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment. 38
26880816 2016
30
Depression in adult patients with biotin responsive basal ganglia disease. 38
27534451 2016
31
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. 38
26863430 2016
32
Nuclear Gene-Encoded Leigh Syndrome Overview 38
26425749 2015
33
Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone. 38
26095097 2015
34
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. 38
25876998 2015
35
Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease. 38
25914216 2015
36
Chemoproteomics demonstrates target engagement and exquisite selectivity of the clinical phosphodiesterase 10A inhibitor MP-10 in its native environment. 38
25295858 2014
37
Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment. 38
24812013 2014
38
Spatio-temporal gait characteristics in children with Tourette syndrome: a preliminary study. 38
24864054 2014
39
Benign hereditary chorea as an experimental model to investigate the role of medium spiny neurons for response adaptation. 38
24835591 2014
40
Defects of thiamine transport and metabolism. 38
24789339 2014
41
Radiosynthesis and validation of ¹⁸F-FP-CMT, a phenyltropane with superior properties for imaging the dopamine transporter in living brain. 38
24714035 2014
42
Thiamine transporter-2 deficiency: outcome and treatment monitoring. 38
24957181 2014
43
Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease. 38
24372704 2014
44
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). 38
23756445 2014
45
Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. 38
24166474 2014
46
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. 38
27896110 2014
47
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis. 38
27896122 2014
48
Thalamostriatal synapses-another substrate for dopamine action? 38
24968774 2014
49
Biotin-Thiamine-Responsive Basal Ganglia Disease 38
24260777 2013
50
Phenotyping dividing cells in mouse models of neurodegenerative basal ganglia diseases. 38
24090101 2013
51
Treatable Leigh-like encephalopathy presenting in adolescence. 38
24099834 2013
52
Metals and movement disorders. 38
23787769 2013
53
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. 38
23742248 2013
54
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. 38
23360564 2013
55
The role of the cerebellum in the pathophysiology of Parkinson's disease. 38
23603164 2013
56
Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors. 38
23506878 2013
57
Centenary of Lewy bodies (1912-2012). 38
23456291 2013
58
Task-related "cortical" bursting depends critically on basal ganglia input and is linked to vocal plasticity. 38
23449880 2013
59
Exaggerated phase-amplitude coupling in the primary motor cortex in Parkinson disease. 38
23471992 2013
60
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. 38
23269594 2013
61
A novel cognitive-neurophysiological state biomarker in premanifest Huntington's disease validated on longitudinal data. 38
23652721 2013
62
The neuropsychiatry of hyperkinetic movement disorders: insights from neuroimaging into the neural circuit bases of dysfunction. 38
24032090 2013
63
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. 38
22777947 2012
64
Recent progress in cell therapy for basal ganglia disorders with emphasis on menstrual blood transplantation in stroke. 38
21645544 2012
65
The motor functions of the basal ganglia. 38
21960305 2011
66
Psychiatric aspects of basal ganglia diseases. 38
21685853 2011
67
Milestones in neuroimaging. 38
21626537 2011
68
Localization and functions of kainate receptors in the basal ganglia. 38
21713664 2011
69
Shedding new light on the role of the basal ganglia-superior colliculus pathway in eye movements. 38
20829033 2010
70
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. 38
21176162 2010
71
[Gait disturbance and deep brain stimulation]. 38
21068459 2010
72
Paradoxical association of the brain-derived-neurotrophic-factor val66met genotype with response inhibition. 38
20034542 2010
73
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. 38
20065143 2010
74
Response inhibition subprocesses and dopaminergic pathways: basal ganglia disease effects. 38
19782093 2010
75
Downstream mechanisms triggered by mitochondrial dysfunction in the basal ganglia: from experimental models to neurodegenerative diseases. 38
19683569 2010
76
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. 38
19491117 2009
77
[Clinical features of neuroferritinopathy]. 38
19594102 2009
78
Error processing in normal aging and in basal ganglia disorders. 38
19166908 2009
79
Update on apraxia. 38
18957186 2008
80
Biotin-responsive basal ganglia disease: case report and review of the literature. 38
19294600 2008
81
Automatic striatal volumetry allows for identification of patients with chorea-acanthocytosis at single subject level. 38
18648728 2008
82
[Movement disorders and basal ganglia function]. 38
18787574 2008
83
The pedunculopontine nucleus in developmental disorders of the basal ganglia. 38
18194143 2008
84
[Steele-Richardson-Olszewski syndrome]. 38
18260059 2007
85
[Japanese originality, clinical symptoms to the causative gene 1 Segawa disease]. 38
18210786 2007
86
Inhibition of 5-HT neuron activity and induction of depressive-like behavior by high-frequency stimulation of the subthalamic nucleus. 38
17942692 2007
87
Stiff person syndrome (SPS), a basal ganglia disease? Striatal MRI lesions in a patient with SPS. 38
17507452 2007
88
Prefrontal cortex dysfunction and depression in atypical parkinsonian syndromes. 38
17260333 2007
89
Blocking striatal adenosine A2A receptors: a new strategy for basal ganglia disorders. 9
18221214 2007
90
Neurophysiology of basal ganglia diseases. 38
18808910 2007
91
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. 38
16790503 2006
92
Depth perception in cerebellar and basal ganglia disease. 38
16733701 2006
93
Functions of frontostriatal systems in cognition: comparative neuropsychopharmacological studies in rats, monkeys and humans. 38
16546312 2006
94
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. 38
15871139 2005
95
Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation. 38
15737889 2005
96
[Blepharospasm and blepharocolysis. Different sides of the same coin]. 38
15782362 2005
97
[Wilson's disease: clinical diagnosis and "faces of panda" signs in magnetic resonance imaging. Case report]. 38
15830089 2005
98
McLeod Neuroacanthocytosis Syndrome 38
20301528 2004
99
Founding years of clinical neurology in Berlin until 1933. 38
15370309 2004
100
Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14. 38
15210883 2004
101
Eyelid movements in health and disease. The supranuclear impairment of the palpebral motility. 38
15030796 2004
102
Athymhormia and disorders of motivation in Basal Ganglia disease. 38
15616180 2004
103
Role of basal ganglia-brainstem systems in the control of postural muscle tone and locomotion. 38
14653168 2004
104
Processing emotional tone from speech in Parkinson's disease: a role for the basal ganglia. 38
15040548 2003
105
Apraxia of eyelid opening in a case of atypical corticobasal degeneration. 38
14523626 2003
106
Mitochondrial DNA-Associated Leigh Syndrome and NARP 38
20301352 2003
107
Basal ganglia and functions of the autonomic nervous system. 38
12585684 2002
108
Fast synaptic transmission between striatal spiny projection neurons. 38
12438690 2002
109
[The varied etiologies of childhood-onset dystonia]. 38
11984483 2002
110
Friedrich Heinrich Lewy (1885-1950) and his work. 38
12012571 2002
111
Clinical correlates of action tremor in Parkinson disease. 38
11594921 2001
112
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. 38
11438811 2001
113
[Basal ganglia disease. Functional neuroanatomy and therapeutic perspectives]. 38
11068522 2000
114
Adenosine A(2A) receptor mRNA expression in Parkinson's disease. 38
10962152 2000
115
Profiles of cognitive dysfunction in chronic amphetamine and heroin abusers. 38
10882838 2000
116
Disruption of spatial organization and interjoint coordination in Parkinson's disease, progressive supranuclear palsy, and multiple system atrophy. 38
10928572 2000
117
Movement disorders in people with Parkinson disease: a model for physical therapy. 38
10842411 2000
118
Late direct and transneuronal effects in mice with targeted expression of a toxin gene to D1 dopamine receptor neurons. 38
10682710 2000
119
Does old age or Parkinson's disease cause bradyphrenia? 38
10496546 1999
120
Regional metabolic changes in the pedunculopontine nucleus of unilateral 6-hydroxydopamine Parkinson's model rats. 38
10320720 1999
121
Subjective perception of body sway. 38
10084529 1999
122
Comparative cognitive neuropsychological studies of frontal lobe function: implications for therapeutic strategies in frontal variant frontotemporal dementia. 38
10436335 1999
123
Acute necrotizing encephalopathy of childhood (infantile bilateral thalamic necrosis): two non-Japanese cases. 38
9881807 1998
124
Action sequencing is impaired in D1A-deficient mutant mice. 38
9749770 1998
125
Biotin-responsive basal ganglia disease: a novel entity. 38
9679779 1998
126
Basal ganglia disease and visuospatial cognition: Are there disease-specific impairments? 38
24486746 1997
127
[Neural mechanisms for the clinical syndromes of Parkinson's disease]. 38
9014419 1997
128
Splice variants of glutamate receptor subunits 2 and 3 in striatal projection neurons. 38
8938741 1996
129
The basal ganglia and apraxia. 38
8624692 1996
130
Mitochondrial defects in basal ganglia diseases. 38
8845935 1995
131
Delayed recognition memory span in HIV-1 infection. 38
9375245 1995
132
Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease. 38
7561937 1995
133
Symptomatic or secondary basal ganglia diseases and tardive dyskinesias. 38
7582050 1995
134
Up-regulation of trkB mRNA expression in the rat striatum after seizures. 38
7478233 1995
135
Electromyography and recovery of the blink reflex in involuntary eyelid closure: a comparative study. 38
7608667 1995
136
Labyrinthectomy in the elderly. 38
8579166 1995
137
The role of the basal ganglia in nociception and pain. 38
7715939 1995
138
Behavior and the basal ganglia. 38
7872134 1995
139
Isolated eyelid-opening apraxia: report of a new levodopa-responsive syndrome. 38
7936309 1994
140
[Obsessive-compulsive disorders caused by basal ganglia diseases]. 38
7754296 1994
141
[Isolated involvement of motivated behavior and basal ganglia diseases]. 38
7754295 1994
142
Frontal lobe dysfunction in secondary depression. 38
7841814 1994
143
Nonneuroleptic etiologies of extrapyramidal symptoms. 38
8102320 1993
144
Clinical features of neuroleptic malignant syndrome in basal ganglia disease. Spontaneous presentation in a patient with Hallervorden-Spatz disease in the absence of neuroleptic drugs. 38
8322990 1993
145
A new striatal model and its relationship to basal ganglia diseases. 38
8394554 1993
146
[Molecular genetic aspects of basal ganglia diseases]. 38
8476662 1993
147
Motor impairment in Wilson's disease, I: Slowness of voluntary limb movements. 38
8442396 1993
148
Motor functions of the basal ganglia. 38
8356199 1993
149
Immunocytochemical localization of kynurenine aminotransferase in the rat striatum: a light and electron microscopic study. 38
1479071 1992
150
Impairment of temporal organization of speech in basal ganglia diseases. 38
1446209 1992
151
Tizanidine in cranial dystonia. 38
1591739 1992
152
Dysphagia in Huntington's disease: a 16-year retrospective. 38
1533361 1992
153
Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). 38
1746558 1991
154
Bilateral ballismus in children. 38
1764710 1991
155
Immunological status in Huntington's disease. 38
1833292 1991
156
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. 38
2018058 1991
157
Does the absence of clinical expression of choreoathetosis, despite severe striatal atrophy, correlate with plasticity of neuropeptide synthesis? 38
1753257 1991
158
MRI in basal ganglia diseases. 38
1753243 1991
159
Motor dysfunction in HIV-infected patients without clinically detectable central-nervous deficit. 38
2277270 1990
160
Psychiatric consequences of basal ganglia disease. 38
2259804 1990
161
[The obsessive-compulsive syndrome: reflection of fronto-caudate dysregulation of the left hemisphere?]. 38
2209490 1990
162
Current trends in the treatment of Basal Ganglia diseases. 38
21561261 1990
163
What are the Basal Ganglia diseases? 38
21561260 1990
164
Assessment of procedural learning and problem solving in schizophrenic patients by Tower of Hanoi type tasks. 38
2136071 1990
165
The basal ganglia and the initiation of movement. 38
2263819 1990
166
[Hepatolenticular degeneration]. 38
2267049 1990
167
[New electrophysiological findings on the incidence of brain involvement in clinically and neurologically asymptomatic HIV infections]. 38
2514087 1989
168
Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome). 38
2514399 1989
169
Increase of substance P and met-enkephalin in a severely atrophied striatum without clinical expression of chorea. 38
20504415 1989
170
Cholecystokinin distribution in the human striatum and related subcortical structures. 38
20504414 1989
171
Quantitative measurements of cerebral blood flow using SPECT and [99mTc]-d,l-HM-PAO compared to xenon-133. 38
3263980 1988
172
The use of technetium-99m-HM-PAO in the assessment of patients with dementia and other neuropsychiatric conditions. 38
2973469 1988
173
Technetium-99m HMPAO imaging in patients with basal ganglia disease. 38
2973362 1988
174
Speech timing in Parkinson's and Huntington's disease. 38
2961409 1987
175
Anatomy and pathology of the basal ganglia. 38
2890425 1987
176
Impairment of rapid movement in Huntington's disease. 38
2953406 1987
177
Pteridines and mono-amines: relevance to neurological damage. 38
3540926 1986
178
Ventricular somatostatin-like immunoreactivity in patients with basal ganglia disease. 38
2864402 1985
179
Neurochemical anatomy of movement disorders. 38
6152481 1984
180
Motor disorders in basal ganglia disease. 38
6715209 1984
181
Basal ganglia disease. 38
6128460 1982
182
Writers' cramp-a focal dystonia. 38
7104663 1982
183
Tremor, the cogwheel phenomenon and clonus in Parkinson's disease. 38
7276968 1981
184
Paresis of vertical gaze in basal ganglia disease. 38
4538012 1972
185
SYMPOSIUM ON THE PATHOPHYSIOLOGY AND TREATMENT OF BASAL GANGLIA DISEASES. 38
14320526 1965
186
NEUROSURGICAL TREATMENT OF BASAL GANGLIA DISEASES. 38
14313023 1964
187
THE METABOLISM OF ADRENALIN AND NORADRENALIN IN PATIENTS WITH BASAL GANGLIA DISEASE. 38
14064308 1963
188
Dopamine and basal ganglia diseases. 38
13686755 1961
189
Preliminary observations on abnormal catecholamine metabolism in basal ganglia diseases. 38
13796577 1960

Variations for Basal Ganglia Disease

ClinVar genetic disease variations for Basal Ganglia Disease:

6 (showing 5, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DNAH7 NM_018897.3(DNAH7): c.10753T> C (p.Phe3585Leu) single nucleotide variant Pathogenic rs1057519439 2:196651859-196651859 2:195787135-195787135
2 IFIH1 NM_022168.4(IFIH1): c.2336G> A (p.Arg779His) single nucleotide variant Pathogenic/Likely pathogenic rs587777446 2:163130423-163130423 2:162273913-162273913
3 TNFRSF13B NM_012452.2(TNFRSF13B): c.58C> T (p.Arg20Cys) single nucleotide variant Uncertain significance 17:16875332-16875332 17:16972018-16972018
4 CACNA1A NM_001127221.1(CACNA1A): c.*478_*483del deletion Uncertain significance 19:13318381-13318387 19:13207563-13207568
5 BMPR2 NM_001204.7(BMPR2): c.545G> A (p.Gly182Asp) single nucleotide variant Uncertain significance rs137852754 2:203379626-203379626 2:202514903-202514903

Expression for Basal Ganglia Disease

Search GEO for disease gene expression data for Basal Ganglia Disease.

Pathways for Basal Ganglia Disease

Pathways related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

(showing 4, show less)
# Super pathways Score Top Affiliating Genes
1 11.29 SLC5A6 PDGFB FTL
2 10.64 SLC5A6 SLC19A3
3 10.52 PDGFRB PDGFB
4 9.95 PTH PDGFRB PDGFB

GO Terms for Basal Ganglia Disease

Cellular components related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 intrinsic component of plasma membrane GO:0031226 8.62 XPR1 PDGFRB

Biological processes related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

(showing 11, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.49 PDGFRB PDGFB
2 platelet-derived growth factor receptor signaling pathway GO:0048008 9.48 PDGFRB PDGFB
3 positive regulation of reactive oxygen species metabolic process GO:2000379 9.46 PDGFRB PDGFB
4 positive regulation of mitotic nuclear division GO:0045840 9.43 PDGFRB PDGFB
5 vasodilation GO:0042311 9.4 GCH1 ADORA2A
6 positive regulation of smooth muscle cell migration GO:0014911 9.37 PDGFRB PDGFB
7 positive regulation of calcium ion import GO:0090280 9.32 PDGFRB PDGFB
8 phosphate ion transmembrane transport GO:0035435 9.26 XPR1 SLC20A2
9 positive regulation of DNA biosynthetic process GO:2000573 9.16 PDGFRB PDGFB
10 positive regulation of chemotaxis GO:0050921 8.96 PDGFRB PDGFB
11 positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway GO:0035793 8.62 PDGFRB PDGFB

Molecular functions related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor receptor binding GO:0005161 8.96 PDGFRB PDGFB
2 platelet-derived growth factor binding GO:0048407 8.62 PDGFRB PDGFB

Sources for Basal Ganglia 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
45 MESH via Orphanet
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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