MCID: CRB088
MIFTS: 37

Cerebral Atrophy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Atrophy

MalaCards integrated aliases for Cerebral Atrophy:

Name: Cerebral Atrophy 53 29 6 71

Classifications:



External Ids:

UMLS 71 C0235946

Summaries for Cerebral Atrophy

NINDS : 53 Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means loss of cells. In brain tissue, atrophy describes a loss of neurons and the connections between them. Atrophy can be generalized, which means that all of the brain has shrunk; or it can be focal, affecting only a limited area of the brain and resulting in a decrease of the functions that area of the brain controls. If the cerebral hemispheres (the two lobes of the brain that form the cerebrum) are affected, conscious thought and voluntary processes may be impaired. Associated Diseases/Disorders: The pattern and rate of progression of cerebral atrophy depends on the disease involved. Diseases that cause cerebral atrophy include: stroke and traumatic brain injury Alzheimer’s disease, Pick’s disease, and fronto-temporal dementia cerebral palsy, in which lesions (damaged areas) may impair motor coordination Huntington’s disease, and other hereditary diseases that are associated with genetic mutations leukodystrophies, such as Krabbe disease, which destroy the myelin sheath that protects axons mitochondrial encephalomyopathies, such as Kearns-Sayre syndrome, which interfere with the basic functions of neurons multiple sclerosis, which causes inflammation, myelin damage, and lesions in cerebral tissue infectious diseases, such as encephalitis, neurosyphilis, and AIDS, in which an infectious agent or the inflammatory reaction to it destroys neurons and their axons Symptoms of cerebral atrophy: Many diseases that cause cerebral atrophy are associated with dementia, seizures, and a group of language disorders called the aphasias.  Dementia is characterized by a progressive impairment of memory and intellectual function that is severe enough to interfere with social and work skills. Memory, orientation, abstraction, ability to learn, visual-spatial perception, and higher executive functions such as planning, organizing, and sequencing may also be impaired. Seizures can take different forms, appearing as disorientation, repetitive movements, loss of consciousness, or convulsions. Aphasias are a group of disorders characterized by disturbances in speaking and understanding language. Receptive aphasia causes impaired comprehension. Expressive aphasia is reflected in odd choices of words, the use of partial phrases, disjointed clauses, and incomplete sentences.

MalaCards based summary : Cerebral Atrophy is related to keratosis follicularis, dwarfism, and cerebral atrophy and autosomal recessive cerebral atrophy, and has symptoms including headache An important gene associated with Cerebral Atrophy is PMM2 (Phosphomannomutase 2). The drugs Tranexamic Acid and Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotypes are mortality/aging and nervous system

Wikipedia : 74 Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any... more...

Related Diseases for Cerebral Atrophy

Diseases in the Cerebral Atrophy family:

Autosomal Recessive Cerebral Atrophy

Diseases related to Cerebral Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 271)
# Related Disease Score Top Affiliating Genes
1 keratosis follicularis, dwarfism, and cerebral atrophy 12.6
2 autosomal recessive cerebral atrophy 12.2
3 pontocerebellar hypoplasia, type 2e 12.0
4 epileptic encephalopathy, early infantile, 76 12.0
5 prieto x-linked mental retardation syndrome 12.0
6 asparagine synthetase deficiency 11.8
7 pontocerebellar hypoplasia, type 2d 11.5
8 incontinentia pigmenti 11.4
9 peho syndrome 11.4
10 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 11.4
11 pontocerebellar hypoplasia, type 2a 11.4
12 aicardi-goutieres syndrome 1 11.2
13 aicardi-goutieres syndrome 3 11.2
14 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.2
15 epileptic encephalopathy, early infantile, 17 11.2
16 aicardi-goutieres syndrome 7 11.2
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 11.2
18 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 11.2
19 neurodevelopmental disorder with involuntary movements 11.2
20 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 11.2
21 epileptic encephalopathy, early infantile, 79 11.2
22 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.0
23 ceroid lipofuscinosis, neuronal, 3 11.0
24 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.0
25 ceroid lipofuscinosis, neuronal, 2 11.0
26 galloway-mowat syndrome 1 11.0
27 ceroid lipofuscinosis, neuronal, 1 11.0
28 ceroid lipofuscinosis, neuronal, 5 11.0
29 oculopalatocerebral syndrome 11.0
30 congenital disorder of glycosylation, type iim 11.0
31 mohr-tranebjaerg syndrome 11.0
32 ceroid lipofuscinosis, neuronal, 8 11.0
33 ceroid lipofuscinosis, neuronal, 6 11.0
34 encephalopathy, familial, with neuroserpin inclusion bodies 11.0
35 ceroid lipofuscinosis, neuronal, 10 11.0
36 aicardi-goutieres syndrome 2 11.0
37 aicardi-goutieres syndrome 4 11.0
38 ceroid lipofuscinosis, neuronal, 7 11.0
39 aicardi-goutieres syndrome 5 11.0
40 aicardi-goutieres syndrome 6 11.0
41 mitochondrial dna depletion syndrome 13 11.0
42 combined oxidative phosphorylation deficiency 24 11.0
43 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 11.0
44 shashi-pena syndrome 11.0
45 3-methylglutaconic aciduria, type viii 11.0
46 neurodevelopmental disorder with hypotonia, seizures, and absent language 11.0
47 epileptic encephalopathy, early infantile, 51 11.0
48 epileptic encephalopathy, early infantile, 55 11.0
49 leukodystrophy, progressive, early childhood-onset 11.0
50 epileptic encephalopathy, early infantile, 75 11.0

Graphical network of the top 20 diseases related to Cerebral Atrophy:



Diseases related to Cerebral Atrophy

Symptoms & Phenotypes for Cerebral Atrophy

UMLS symptoms related to Cerebral Atrophy:


headache

MGI Mouse Phenotypes related to Cerebral Atrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.43 ACER3 ADAR CLN6 GNAO1 PMM2 VPS53
2 nervous system MP:0003631 9.02 ACER3 ADAR CLN6 GNAO1 PMM2

Drugs & Therapeutics for Cerebral Atrophy

Drugs for Cerebral Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2 Hemostatics Phase 3
3 Antifibrinolytic Agents Phase 3
4 Coagulants Phase 3
5
Lamotrigine Approved, Investigational Phase 2 84057-84-1 3878
6 Sodium Channel Blockers Phase 2
7 Psychotropic Drugs Phase 2
8 Antipsychotic Agents Phase 2
9 Calcium, Dietary Phase 2
10 Diuretics, Potassium Sparing Phase 2
11 calcium channel blockers Phase 2
12
Calcium Nutraceutical Phase 2 7440-70-2 271
13
Sevoflurane Approved, Vet_approved 28523-86-6 5206
14
Olanzapine Approved, Investigational 132539-06-1 4585
15
Dopamine Approved 51-61-6, 62-31-7 681
16
Risperidone Approved, Investigational 106266-06-2 5073
17
Ziprasidone Approved 146939-27-7 60854
18
Alprostadil Approved, Investigational 745-65-3 149351 5280723
19
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
20 Fluorodeoxyglucose F18
21 Radiopharmaceuticals
22 Anesthetics
23 Dopamine Agents
24 Dopamine Antagonists
25 Serotonin Uptake Inhibitors
26 Retinol palmitate
27 retinol
28
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 ExStroke Pilot Trial: Physical Exercise After Acute Ischaemic Stroke Completed NCT00132483 Phase 3
2 Tranexamic Acid to Prevent OpeRation in Chronic Subdural Hematoma. A Double-blind, Placebo-controlled, Multicentre, Randomized Controlled Clinical Trial Recruiting NCT03582293 Phase 3 Tranexamic Acid 500Mg Tablet;Placebo oral capsule
3 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Withdrawn NCT02299115 Phase 3 Prednisolone;Vigabatrin
4 A Randomised Controlled Trial of Neuroprotection With Lamotrigine in Secondary Progressive Multiple Sclerosis: Single Centre, Phase 2 Trial Completed NCT00257855 Phase 2 Lamotrigine
5 F 18 T807 Tau PET Imaging in Dominantly Inherited Alzheimer's Network (IND 123119, Protocol D Active, not recruiting NCT02414178 Phase 2 F 18 T807
6 Cognitive and Emotional Disorders in Amyotrophic Lateral Sclerosis : Neuropsychological, Imaging and Neuropathological Study Unknown status NCT01530438
7 Comparison Between Clinical and MRI Multiple Sclerosis Activity and Expression of Human Endogenous Retrovirus Type W and Herpesvirus in Peripheral Blood of Patients Unknown status NCT02489877
8 Measure of Specific Determinants of the Cerebral Small Vessel Disease in HIV+ Patients Completed NCT02210130
9 Study of MRI 3 Tesla Using Arterial Spin Labeling (Without Infusion) in Cognitive Atypical Disorders and Comparison to FDG-PET Completed NCT02058043
10 DANish DELIrium Study On Neurointensive Care Patients. A Two Phase Intervention Study Completed NCT02594982
11 Post-stroke Cognitive Impairment and Dementia: Frequency and Anatomical Correlates With the French Version of the National Institute of Neurological Disorders and Stroke (NINDS)-Canadian Stroke Network Battery Completed NCT01339195
12 Association Between Changes in Cerebral Gray Matter Volume and Postoperative Cognitive Dysfunction in Elderly Patients Following Sevoflurane Anesthesia (POCD-MRI) Completed NCT02045004
13 Neurocognitive Effects of Ziprasidone: Relationship to Working Memory and Dopamine Blockade Completed NCT00225498 ziprasidone vs risperidone or olanzapine
14 Disability, MRI Lesions and Thickness of Retinal Fibers: Evaluation 15 Years After a First Episode of Demyelination Recruiting NCT03268096
15 Brain Ultrasound in the Weaning of External Ventricular Leads Recruiting NCT03531723
16 Mapping Functional Networks of Brain Activity (Brain Network Activation) Based on Analysis of Evoked Response Potential (ERP) Signals and Registration of Posture and Gait-related Data in FMR1 Premutation Carriers and Patients With FXTAS. Recruiting NCT02936531
17 Safety, Tolerability, and Early Efficacy of Immersive Virtual Reality for Early Neurocognitive Stimulation in the Intensive Care Unit. Recruiting NCT03569358
18 Prevention of Hypertensive Injury to the Brain by Intensive Treatment in IntraCerebral Haemorrhage Recruiting NCT03863665
19 Safeguarding the Brain of Our Smallest Children - an Investigator-initiated, Pragmatic, Open Label, Multinational Randomized Phase IIIclinical Trial Evaluating Treatment Based on Near-infrared Spectroscopy Monitoring Versus Treatment as Usual in Premature Infants Recruiting NCT03770741
20 Correlation of Musicality and Cognitive Skills in Persons With Alzheimer´s Disease Not yet recruiting NCT04132193
21 Evaluating the Impact of Cerebral Ischemic And Degenerative Changes On Cognition Terminated NCT00704327
22 Head Circumference Growth in Children Who Develop Multiple Sclerosis Later in Life -- a Retrospective Analysis Withdrawn NCT01377805

Search NIH Clinical Center for Cerebral Atrophy

Genetic Tests for Cerebral Atrophy

Genetic tests related to Cerebral Atrophy:

# Genetic test Affiliating Genes
1 Cerebral Atrophy 29

Anatomical Context for Cerebral Atrophy

MalaCards organs/tissues related to Cerebral Atrophy:

40
Brain, Testes, Cortex, Temporal Lobe, Bone, Heart, Bone Marrow

Publications for Cerebral Atrophy

Articles related to Cerebral Atrophy:

(show top 50) (show all 2853)
# Title Authors PMID Year
1
Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease. 61
32178563 2020
2
Offspring of rats with cerebral hypoxia-ischemia manifest cognitive dysfunction in learning and memory abilities. 61
32209770 2020
3
Sex-specific patterns of age-related cerebral atrophy in a nonhuman primate Microcebus murinus. 61
32229027 2020
4
Staging and quantification of florbetaben PET images using machine learning: impact of predicted regional cortical tracer uptake and amyloid stage on clinical outcomes. 61
31884562 2020
5
[A case of hereditary diffuse leukoencephalopathy with spheroids and pigmented glia presenting with long-term mild psychiatric symptoms]. 61
32435043 2020
6
A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction. 61
32240828 2020
7
Education as Proxy for Cognitive Reserve in a Large Elderly Memory Clinic: 'Window of Benefit'. 61
32538838 2020
8
Brain imaging in catatonia: systematic review and directions for future research. 61
32539902 2020
9
The human olfactory system in two proteinopathies: Alzheimer's and Parkinson's diseases. 61
32493457 2020
10
Decreased visible deep medullary veins is a novel imaging marker for cerebral small vessel disease. 61
31955350 2020
11
A case of disseminated microscopic demyelination with multifocal dystrophic calcification. 61
32128889 2020
12
Structural changes in the brain on cranial magnetic resonance imaging in severely malnourished children before and after treatment. 61
32224323 2020
13
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. 61
32439809 2020
14
Fragile X associated neuropsychiatric disorders in a male without FXTAS. 61
32494560 2020
15
The Role of BDNF on Aging-Modulation Markers. 61
32397504 2020
16
Volume Analysis of Brain Cognitive Areas in Alzheimer's Disease: Interim 3-Year Results from the ASCOMALVA Trial. 61
32508323 2020
17
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. 61
32286009 2020
18
Cerebral atrophy in 21 hypotonic infants with severe vitamin B12 deficiency. 61
31868292 2020
19
Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome. 61
32160415 2020
20
Inhibition of sphingolipid synthesis improves outcomes and survival in GARP mutant wobbler mice, a model of motor neuron degeneration. 61
32345721 2020
21
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency. 61
32295391 2020
22
Impaired cerebral blood flow in type 2 diabetes mellitus - A comparative study with subjective cognitive decline, vascular dementia and Alzheimer's disease subjects. 61
32521474 2020
23
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. 61
32337771 2020
24
Neurological manifestations of Erdheim-Chester Disease. 61
32227455 2020
25
Psychiatric Disorders and Distal 21q Deletion-A Case Report. 61
32365584 2020
26
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. 61
31685998 2020
27
Longitudinal brain atrophy distribution in advanced Parkinson's disease: What makes the difference in "cognitive status" converters? 61
31789477 2020
28
Opiate and Cerebral Atrophy. 61
32565630 2020
29
Associations of Radiographic Cerebral Small Vessel Disease with Acute Intracerebral Hemorrhage Volume, Hematoma Expansion, and Intraventricular Hemorrhage. 61
31845173 2020
30
Thalamic Deep Brain Stimulation for tremor: The critical role of intraoperative testing. 61
32247245 2020
31
Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency. 61
31766059 2020
32
Neuronal ceroid lipofuscinosis type 2: an Australian case series. 61
32329550 2020
33
Is Chronic Opioid Abuse Associated with Cerebral Atrophy? An Observational Study. 61
32565639 2020
34
Selenoprotein P and its potential role in Alzheimer's disease. 61
31250406 2020
35
Imaging of the aging brain and development of MRI signal abnormalities. 61
32229042 2020
36
Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1). 61
32062129 2020
37
[Prevention of brain injury in preterm born infants]. 61
32285791 2020
38
Analysis of different post mortem assessment methods for cerebral edema. 61
32014814 2020
39
Cerebral arterial pulsatility is associated with features of small vessel disease in patients with acute stroke and TIA: a 4D flow MRI study. 61
31728712 2020
40
Abnormalities of brain imaging in patients after left ventricular assist device support following explantation. 61
31843457 2020
41
Genotype-phenotype correlation on 45 individuals with West syndrome. 61
31791873 2020
42
Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. 61
31050360 2020
43
Novel and emerging treatments for Aicardi-Goutières syndrome. 61
31855085 2020
44
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis. 61
32102670 2020
45
Effectiveness of clozapine, oxcarbazepine and rivastigmine combination in a bipolar disorder patient with initial cerebral atrophy. 61
32128167 2020
46
A pragmatic approach to intravenous anaesthetics and electroencephalographic endpoints for the treatment of refractory and super-refractory status epilepticus in critical care. 61
31623937 2020
47
Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review. 61
32055602 2020
48
An Unusual Presentation of Menkes Disease Masquerading as a Leukodystrophy with Macrocephaly. 61
32435310 2020
49
Apathy and anxiety are early markers of Alzheimer's disease. 61
31735378 2020
50
FAM222A encodes a protein which accumulates in plaques in Alzheimer's disease. 61
31964863 2020

Variations for Cerebral Atrophy

ClinVar genetic disease variations for Cerebral Atrophy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His)SNV Pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
2 PMM2 NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)SNV Pathogenic 7723 rs80338700 16:8900255-8900255 16:8806398-8806398
3 MLLT1 NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln)SNV Likely pathogenic 242890 rs749203329 19:6213798-6213798 19:6213787-6213787
4 SETBP1 NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)SNV Likely pathogenic 523513 rs1555706928 18:42531919-42531919 18:44951954-44951954
5 DGUOK NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)SNV Uncertain significance 523554 rs757962437 2:74154102-74154102 2:73926975-73926975
6 DGUOK NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu)SNV Uncertain significance 523553 rs1553403624 2:74173868-74173868 2:73946741-73946741
7 DNMT1 NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu)SNV Uncertain significance 373927 rs1057518774 19:10259562-10259562 19:10148886-10148886

Expression for Cerebral Atrophy

Search GEO for disease gene expression data for Cerebral Atrophy.

Pathways for Cerebral Atrophy

GO Terms for Cerebral Atrophy

Sources for Cerebral Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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