CIAT
MCID: CGN005
MIFTS: 37

Cognitive Impairment with or Without Cerebellar Ataxia (CIAT)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cognitive Impairment with or Without Cerebellar Ataxia

MalaCards integrated aliases for Cognitive Impairment with or Without Cerebellar Ataxia:

Name: Cognitive Impairment with or Without Cerebellar Ataxia 58 76 30 13 6 41 74
Neurobehavioral Manifestations 45 17
Ciat 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia


HPO:

33
cognitive impairment with or without cerebellar ataxia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cognitive Impairment with or Without Cerebellar Ataxia

UniProtKB/Swiss-Prot : 76 Cognitive impairment with or without cerebellar ataxia: A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes.

MalaCards based summary : Cognitive Impairment with or Without Cerebellar Ataxia, also known as neurobehavioral manifestations, is related to aphasia and alzheimer disease. An important gene associated with Cognitive Impairment with or Without Cerebellar Ataxia is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8). The drugs Reboxetine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are emotional lability and intellectual disability

Description from OMIM: 614306

Related Diseases for Cognitive Impairment with or Without Cerebellar Ataxia

Diseases related to Cognitive Impairment with or Without Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aphasia 10.3
2 alzheimer disease 9.7
3 apnea, obstructive sleep 9.7
4 human immunodeficiency virus type 1 9.7
5 sleep apnea 9.7
6 binswanger's disease 9.7
7 head injury 9.7
8 cleft mitral valve 9.7

Graphical network of the top 20 diseases related to Cognitive Impairment with or Without Cerebellar Ataxia:



Diseases related to Cognitive Impairment with or Without Cerebellar Ataxia

Symptoms & Phenotypes for Cognitive Impairment with or Without Cerebellar Ataxia

Human phenotypes related to Cognitive Impairment with or Without Cerebellar Ataxia:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 emotional lability 33 occasional (7.5%) HP:0000712
2 intellectual disability 33 occasional (7.5%) HP:0001249
3 dysarthria 33 occasional (7.5%) HP:0001260
4 dysmetria 33 occasional (7.5%) HP:0001310
5 optic nerve hypoplasia 33 occasional (7.5%) HP:0000609
6 amblyopia 33 occasional (7.5%) HP:0000646
7 gaze-evoked nystagmus 33 occasional (7.5%) HP:0000640
8 esophoria 33 occasional (7.5%) HP:0025312
9 cognitive impairment 33 HP:0100543
10 attention deficit hyperactivity disorder 33 HP:0007018

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
gaze-evoked nystagmus (1 patient)
amblyopia (1 patient)
optic nerve hypoplasia (1 patient)
esophoria (1 patient)

Neurologic Behavioral Psychiatric Manifestations:
attention deficit-hyperactivity disorder (3 patients)
emotional lability (2 patients)

Neurologic Central Nervous System:
mental retardation (1 patient)
cognitive impairment (3 patients)
ataxia (1 patient)
dysmetria (1 patient)
dysarthria (1 patient)
more

Clinical features from OMIM:

614306

Drugs & Therapeutics for Cognitive Impairment with or Without Cerebellar Ataxia

Drugs for Cognitive Impairment with or Without Cerebellar Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 839)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Reboxetine Approved, Experimental Phase 4 98769-81-4, 71620-89-8 65856 123628
2
Citalopram Approved Phase 4,Phase 3,Phase 2 59729-33-8 2771
3
Ferrous succinate Approved Phase 4 10030-90-7
4
Iron Approved, Experimental Phase 4,Phase 2,Not Applicable 7439-89-6, 15438-31-0 23925 27284
5
Flurbiprofen Approved, Investigational Phase 4 5104-49-4 3394
6
Dezocine Approved, Investigational Phase 4 53648-55-8 40841 3033053
7
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 113775-47-6 68602 5311068
8
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 6740-88-1 3821
9
Nalbuphine Approved Phase 4,Phase 2,Phase 3 20594-83-6 5360630 5311304
10
Remifentanil Approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 132875-61-7 60815
11
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 137-58-6 3676
12
Desflurane Approved Phase 4,Phase 2,Not Applicable 57041-67-5 42113
13
Isoflurane Approved, Vet_approved Phase 4,Not Applicable 26675-46-7 3763
14
Sufentanil Approved, Investigational Phase 4,Early Phase 1,Not Applicable 56030-54-7 41693
15
Sodium Citrate Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 68-04-2
16
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 59467-70-8 4192
17
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 2078-54-8 4943
18
Etomidate Approved Phase 4,Not Applicable 33125-97-2 36339 667484
19
Rocuronium Approved Phase 4,Phase 2,Phase 3,Not Applicable 119302-91-9, 143558-00-3 441290
20
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 94-09-7, 1994-09-7 2337
21
tannic acid Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 1401-55-4
22
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 437-38-7 3345
23
Sevoflurane Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 28523-86-6 5206
24
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 93-14-1 3516
25
Methadone Approved Phase 4 76-99-3 4095
26
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 7487-88-9 24083
27
Promethazine Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 60-87-7 4927
28
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 62-31-7, 51-61-6 681
29
Diphenhydramine Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 147-24-0, 58-73-1 3100
30
Zolpidem Approved Phase 4 82626-48-0 5732
31
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 106266-06-2 5073
32
Midodrine Approved Phase 4,Not Applicable 133163-28-7, 42794-76-3 4195
33
Ropivacaine Approved Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable 84057-95-4 71273 175805
34
Cisatracurium Approved Phase 4,Early Phase 1,Not Applicable 96946-41-7
35
Bupivacaine Approved, Investigational Phase 4,Not Applicable 2180-92-9, 38396-39-3 2474
36
Parathyroid hormone Approved, Investigational Phase 4,Not Applicable 9002-64-6
37
Ziprasidone Approved Phase 4,Phase 3,Phase 2,Not Applicable 146939-27-7 60854
38
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 60142-96-3 3446
39
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59-92-7 6047
40
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 83-43-2 6741
41
Levetiracetam Approved, Investigational Phase 4,Phase 2,Phase 1 102767-28-2 441341
42
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
43
Felbamate Approved Phase 4 25451-15-4 3331
44
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 2921-57-5
45
Topiramate Approved Phase 4,Phase 3,Not Applicable 97240-79-4 5284627
46
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 302-25-0
47
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-24-8 5755
48
Clobazam Approved, Illicit Phase 4,Phase 3 22316-47-8 2789
49
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
50
Nitrazepam Approved Phase 4 146-22-5 4506

Interventional clinical trials:

(show top 50) (show all 2982)
# Name Status NCT ID Phase Drugs
1 Reboxetine and Citalopram as an Adjunct Treatment to Second Generation Antipsychotics in the Treatment of Negative Symptoms of Schizophrenia Unknown status NCT01300364 Phase 4 Reboxetine;citalopram (SSRI)
2 Iron Supplementation of Marginally Low Birth Weight Infants Unknown status NCT00558454 Phase 4 Iron
3 Effect of Dexmedetomidine for Postoperative Intravenous Patient Controlled Analgesia Unknown status NCT03014713 Phase 4 Dezocine;Flubiprofen;Dexmedetomidine
4 Ketamine and Postoperative Analgesia in Children Unknown status NCT00200564 Phase 4 ketamine
5 Effect of Deksmedetomidine and Remifentanil in Extubation Agitation Unknown status NCT02104297 Phase 4 deksmedetomidine;Remifentanil;Saline
6 A RCT of Compound Lidocaine Cream to Prevent Postoperative Agitation in Patients With Endotracheal Intubation for GA Unknown status NCT02017392 Phase 4 Compound Lidocaine Cream
7 Comparison of Postoperative Delirium in Patients Anaesthetised With Isoflurane and Desflurane During Spinal Surgery Unknown status NCT02925611 Phase 4 Isoflurane;Desflurane
8 Whether Dexmedetomidine Can Improve the Prognosis of Elderly Patients With Postoperative Cognitive Dysfunction Unknown status NCT02923128 Phase 4 Dexmedetomidine;Sufentanyl;Saline
9 Target Controlled Infusion of Etomidate or Propofol for Anesthesia of Thoracoscopic Mitral Valve Replacement Surgery Unknown status NCT02644980 Phase 4 Propofol;Etomidate;Induction of anesthesia;Maintenance of anesthesia
10 Midazolam Used Alone or Sequential Use of Midazolam and Propofol/Dexmedetomidine in Mechanically Ventilated Patients Unknown status NCT02528513 Phase 4 midazolam;Fentanyl;propofol;Dexmedetomidine;midazolam(used for passing the SBT safety screen)
11 Comparison of Dexmedetomidine and Propofol on the Delirium and Neuroinflammation in Patients With SIRS. Unknown status NCT02366299 Phase 4 Dexmedetomidine;Propofol
12 Melatonin for Delirium Prophylaxis Unknown status NCT02282241 Phase 4 Melatonin
13 Effects of Dexmedetomidine Sedation on Delirium and Haemodynamic in Mechanical Ventilated Elderly Patients Unknown status NCT02225210 Phase 4 Dexmedetomidine;Midazolam;Fentanyl
14 Sevoflurane Decreases the Risk of Postoperative Delirium After Cerebral Hypoxemia During Surgery Unknown status NCT02133638 Phase 4 Sevoflurane;Propofol
15 Impact of Various Sedation Regimens on the Incidence of Delirium Unknown status NCT02117726 Phase 4 Dexmedetomidine,midazolam;Propofol,midazolam
16 Safety and Efficacy of Combined Sedation With Midazolam and Dexmedetomidine in ICU Patients Unknown status NCT02080169 Phase 4 midazolam;Dexmedetomidine;Fentanyl
17 The Effect of Analgesia Based Sedation Protocol on Brain Function of Critical Care Patients Unknown status NCT02078583 Phase 4 Fentanyl;Remifentanil;Normal saline
18 Adjunct Methadone to Decrease the Duration of Mechanical Ventilation in the Medical Intensive Care Unit Unknown status NCT02025855 Phase 4 Methadone;Placebo
19 Sevoflurane and Propofol Anesthesia on Postoperative Delirium Unknown status NCT01995214 Phase 4 Propofol;Sevoflurane
20 Postoperative Recovery in Elderly Patients Undergoing Hip Hemi-arthroplasty Unknown status NCT01934049 Phase 4 Total Intravenous Anesthesia and Peripheral nerve blocks
21 Magnesium Sulphate and Sevoflurane Induced Emergence Agitation in Children Unknown status NCT01743144 Phase 4 Magnesium Sulfate;normal saline
22 The Role of Ketamine in Preventing Cognitive Dysfunctions in Postoperative Period of Cardiac Surgery Unknown status NCT02782429 Phase 4 Ketamine
23 Acupuncture for Sedation in the Intensive Care Unit (ICU) Unknown status NCT01362270 Phase 4
24 Risperidone and Zotepine in the Treatment of Delirium Unknown status NCT00622011 Phase 4 Risperidone and Zolpidem for delirium
25 Closed Loop Stimulation for Neuromediated Syncope (SPAIN Study) Unknown status NCT01621464 Phase 4
26 Assessment of Midodrine in the Prevention of Vasovagal Syncope: The Prevention of Syncope Trial IV Unknown status NCT01456481 Phase 4 midodrine hydrochloride;matching placebo
27 Syncope: Pacing or Recording in the Later Years Unknown status NCT01423994 Phase 4
28 Is Dexmedetomidine Associated With a Lower Incidence of Postoperative Delirium When Compared to Propofol or Midazolam in Cardiac Surgery Patients Unknown status NCT00417664 Phase 4 dexmedetomidine;midazolam;propofol
29 Effects of Dexmedetomidine on Postoperative Cognitive Dysfunction During One-lung Ventilation in Elder Patients Unknown status NCT02134093 Phase 4 Induction of anesthesia,midazolam ,sufentanil,etomidate and rocuronium;Dexmedetomidine;Normal saline;Maintenance of anesthesia , propofol, remifentanil,vecuronium
30 The Psychological Effects of Different Sedation Protocol on Mechanically Ventilated Critically Ill Adults. Unknown status NCT02123589 Phase 4 Deep sedation(midazolam and fentanyl );Deep and daily interruption of sedation(midazolam and fentanyl );Light sedation(midazolam and fentanyl )
31 Effect of Infraorbital and Infratrochlear Nerve Block on Emergence Agitation in Patients Undergoing Septorhinoplasty Unknown status NCT02751268 Phase 4 Normal Saline;Ropivacaine
32 Propofol for Treatment on Emergence Agitation Unknown status NCT02738814 Phase 4 propofol
33 Small Doses of Dexmedetomidine for Emergence Agitation Unknown status NCT02169843 Phase 4 Sevoflurane;Dexmedetomidine;Placebo(for Dexmedetomidine)
34 Addition of Magnesium Sulfate to Caudal to Prevent Postoperative Emergence Agitation. Unknown status NCT02164773 Phase 4 Magnesium Sulfate;0.9%normal saline
35 Cholecalciferol Supplementation in Restless Leg Syndrome in Patients With Chronic Kidney Disease Unknown status NCT03063190 Phase 4 Vitamin D;Placebo Oral Tablet
36 The Efficacy And Safety Of Intramuscular Ziprasidone For Three Days In Patients With Psychotic Agitation Unknown status NCT02935998 Phase 4 Ziprasidone
37 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4 Gabapentin Enacarbil (GEn);Placebo
38 The Effect of Dexmedetomidine on Emergence Agitation in Children Undergoing a Surgery Under Desflurane Anesthesia Unknown status NCT01578161 Phase 4 Dexmedetomidine;0.9% Normal Saline
39 Dopaminergic Enhancement of Learning and Memory in Healthy Adults and Patients With Dyslexia Unknown status NCT00111371 Phase 4 Levodopa
40 ED50 of Dexmedetomidine to Prevent Emergence Agitation in Children Unknown status NCT01374737 Phase 4 Dexmedetomidine
41 Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4 Antiepileptic drug (AED)
42 Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:A Randomized Controlled Trial Unknown status NCT00196703 Phase 4 memantine
43 Magnetic Stimulation as a Treatment for Auditory Hallucinations in Schizophrenia Unknown status NCT00186771 Phase 4
44 Effect Study of Parecoxib to Treat Emergence Delirium and Postoperative Pain Unknown status NCT01221025 Phase 4 Parecoxib
45 Amantadine for Treatment of Symptoms of the Post-Traumatic Confusional State Unknown status NCT00693121 Phase 4 Amantadine hydrochloride;Placebo capsule
46 Memantine for Agitation in Dementia Unknown status NCT00371059 Phase 4 Memantine;Placebo
47 Galantamine in the Treatment of Post-Traumatic Headache Unknown status NCT00219869 Phase 4 Galantamine
48 Is Sensory Stimulation Effective in Reducing Time Spent in a Coma or Vegetative State Unknown status NCT00163878 Phase 4
49 Assessment in Work Productivity and the Relationship With Cognitive Symptoms in Patients With MDD Taking Vortioxetine Completed NCT02332954 Phase 4 vortioxetine
50 Tocilizumab as Add-On Treatment For Residual Positive, Negative, and Cognitive Symptoms of Schizophrenia Completed NCT02034474 Phase 4 Tocilizumab;Placebo

Search NIH Clinical Center for Cognitive Impairment with or Without Cerebellar Ataxia

Cochrane evidence based reviews: neurobehavioral manifestations

Genetic Tests for Cognitive Impairment with or Without Cerebellar Ataxia

Genetic tests related to Cognitive Impairment with or Without Cerebellar Ataxia:

# Genetic test Affiliating Genes
1 Cognitive Impairment with or Without Cerebellar Ataxia 30 SCN8A

Anatomical Context for Cognitive Impairment with or Without Cerebellar Ataxia

MalaCards organs/tissues related to Cognitive Impairment with or Without Cerebellar Ataxia:

42
Brain, Testes, Heart, Lung, Liver, Breast, Kidney

Publications for Cognitive Impairment with or Without Cerebellar Ataxia

Articles related to Cognitive Impairment with or Without Cerebellar Ataxia:

# Title Authors Year
1
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. ( 27287737 )
2016
2
Neurobehavioral Manifestations of Human Immunodeficiency Virus/AIDS: Diagnosis and Treatment. ( 26613994 )
2016
3
Neurobehavioral Manifestations of Neurological Diseases: Diagnosis and Treatment. ( 26614003 )
2016
4
Effect of zishenpingchan granule on neurobehavioral manifestations and the activity and gene expression of striatal dopamine d1 and d2 receptors of rats with levodopa-induced dyskinesias. ( 25477990 )
2014
5
Neurobehavioral manifestations of developmental impairment of the brain. ( 21217874 )
2010
6
Neurobehavioral manifestations and sequelae of HIV and other infections. ( 10553208 )
1999
7
Neurobehavioral manifestations of symptomatic HIV-1 disease in children: can nutritional factors play a role? ( 8861929 )
1996
8
White matter changes: neurobehavioral manifestations of Binswanger's disease and clinical correlates in Alzheimer's disease. ( 8087170 )
1994
9
Neurobehavioral manifestations following closed head injury. ( 8102280 )
1993
10
Neurobehavioral manifestations in obstructive sleep apnea syndrome before and after treatment with continuous positive airway pressure. ( 1470802 )
1992

Variations for Cognitive Impairment with or Without Cerebellar Ataxia

ClinVar genetic disease variations for Cognitive Impairment with or Without Cerebellar Ataxia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN8A NM_014191.3(SCN8A): c.5156_5157delCT (p.Pro1719Argfs) deletion Pathogenic rs587776703 GRCh38 Chromosome 12, 51806642: 51806643
2 SCN8A NM_014191.3(SCN8A): c.5156_5157delCT (p.Pro1719Argfs) deletion Pathogenic rs587776703 GRCh37 Chromosome 12, 52200426: 52200427
3 SCN8A NM_014191.3(SCN8A): c.4877G> A (p.Arg1626His) single nucleotide variant Conflicting interpretations of pathogenicity rs886044328 GRCh37 Chromosome 12, 52200147: 52200147
4 SCN8A NM_014191.3(SCN8A): c.4877G> A (p.Arg1626His) single nucleotide variant Conflicting interpretations of pathogenicity rs886044328 GRCh38 Chromosome 12, 51806363: 51806363
5 SCN8A NM_014191.3(SCN8A): c.618T> A (p.Tyr206Ter) single nucleotide variant Likely pathogenic rs1490133991 GRCh38 Chromosome 12, 51688761: 51688761
6 SCN8A NM_014191.3(SCN8A): c.618T> A (p.Tyr206Ter) single nucleotide variant Likely pathogenic rs1490133991 GRCh37 Chromosome 12, 52082545: 52082545

Expression for Cognitive Impairment with or Without Cerebellar Ataxia

Search GEO for disease gene expression data for Cognitive Impairment with or Without Cerebellar Ataxia.

Pathways for Cognitive Impairment with or Without Cerebellar Ataxia

GO Terms for Cognitive Impairment with or Without Cerebellar Ataxia

Sources for Cognitive Impairment with or Without Cerebellar Ataxia

3 CDC
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10 dbSNP
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17 EFO
18 ExPASy
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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