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


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 ceroid lipofuscinosis, neuronal, 1 and ceroid lipofuscinosis, neuronal, 7, and has symptoms including headache An important gene associated with Cerebral Atrophy is VPS53 (VPS53 Subunit Of GARP Complex). The drugs Tranexamic Acid and Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and testes, and related phenotype is mortality/aging.

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 278)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 31.6 CLN6 CLN3
2 ceroid lipofuscinosis, neuronal, 7 31.6 CLN6 CLN3
3 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 31.6 CLN6 CLN3
4 ceroid lipofuscinosis, neuronal, 10 31.5 CLN6 CLN3
5 ceroid lipofuscinosis, neuronal, 2 31.5 CLN6 CLN3
6 ceroid lipofuscinosis, neuronal, 3 31.4 CLN6 CLN3
7 gm1 gangliosidosis 29.4 CLN6 CLN3
8 keratosis follicularis, dwarfism, and cerebral atrophy 12.6
9 autosomal recessive cerebral atrophy 12.2
10 pontocerebellar hypoplasia, type 2e 12.0
11 epileptic encephalopathy, early infantile, 76 12.0
12 prieto x-linked mental retardation syndrome 12.0
13 asparagine synthetase deficiency 11.8
14 pontocerebellar hypoplasia, type 2d 11.5
15 incontinentia pigmenti 11.4
16 peho syndrome 11.4
17 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 11.4
18 pontocerebellar hypoplasia, type 2a 11.4
19 aicardi-goutieres syndrome 1 11.2
20 aicardi-goutieres syndrome 3 11.2
21 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.2
22 epileptic encephalopathy, early infantile, 17 11.2
23 aicardi-goutieres syndrome 7 11.2
24 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 11.2
25 neurodevelopmental disorder with involuntary movements 11.2
26 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 11.2
27 epileptic encephalopathy, early infantile, 79 11.2
28 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.0
29 galloway-mowat syndrome 1 11.0
30 ceroid lipofuscinosis, neuronal, 5 11.0
31 oculopalatocerebral syndrome 11.0
32 congenital disorder of glycosylation, type iim 11.0
33 mohr-tranebjaerg syndrome 11.0
34 ceroid lipofuscinosis, neuronal, 8 11.0
35 ceroid lipofuscinosis, neuronal, 6 11.0
36 encephalopathy, familial, with neuroserpin inclusion bodies 11.0
37 aicardi-goutieres syndrome 2 11.0
38 aicardi-goutieres syndrome 4 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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 11.0
43 combined oxidative phosphorylation deficiency 24 11.0
44 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 11.0
45 shashi-pena syndrome 11.0
46 3-methylglutaconic aciduria, type viii 11.0
47 neurodevelopmental disorder with hypotonia, seizures, and absent language 11.0
48 epileptic encephalopathy, early infantile, 51 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:


MGI Mouse Phenotypes related to Cerebral Atrophy:

# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 ACER3 ADAR CLN3 CLN6 GNAO1 VPS53

Drugs & Therapeutics for Cerebral Atrophy

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2 Hemostatics Phase 3
3 Coagulants Phase 3
4 Antifibrinolytic Agents Phase 3
Lamotrigine Approved, Investigational Phase 2 84057-84-1 3878
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
7 Antipsychotic Agents Phase 2
8 Central Nervous System Depressants Phase 2
9 Sodium Channel Blockers Phase 2
10 Tranquilizing Agents Phase 2
11 Diuretics, Potassium Sparing Phase 2
12 calcium channel blockers Phase 2
13 Calcium, Dietary Phase 2
14 Psychotropic Drugs Phase 2
Sevoflurane Approved, Vet_approved 28523-86-6 5206
Dopamine Approved 51-61-6, 62-31-7 681
Olanzapine Approved, Investigational 132539-06-1 4585
Risperidone Approved, Investigational 106266-06-2 5073
Ziprasidone Approved 146939-27-7 60854
Alprostadil Approved, Investigational 745-65-3 149351 5280723
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
22 Fluorodeoxyglucose F18
23 Radiopharmaceuticals
24 Anesthetics
25 Platelet Aggregation Inhibitors
26 Anesthetics, General
27 Anesthetics, Inhalation
28 Sympathomimetics
29 Serotonin Uptake Inhibitors
30 Dopamine Agents
31 Dopamine Antagonists
32 Serotonin Agents
33 Serotonin Antagonists
34 retinol
35 Retinol palmitate
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 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 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
18 Safety, Tolerability, and Early Efficacy of Immersive Virtual Reality for Early Neurocognitive Stimulation in the Intensive Care Unit. Recruiting NCT03569358
19 Prevention of Hypertensive Injury to the Brain by Intensive Treatment in IntraCerebral Haemorrhage Recruiting NCT03863665
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:

Brain, Bone, Testes, Cortex, Temporal Lobe, Heart, Liver

Publications for Cerebral Atrophy

Articles related to Cerebral Atrophy:

(show top 50) (show all 2817)
# Title Authors PMID Year
Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. 61
31050360 2020
Novel and emerging treatments for Aicardi-Goutières syndrome. 61
31855085 2020
Acquired Hemicerebral Atrophy Secondary to Chronic Internal Carotid Steno-Occlusive Disease: A Case Series. 61
31839863 2020
Apathy and anxiety are early markers of Alzheimer's disease. 61
31735378 2020
FAM222A encodes a protein which accumulates in plaques in Alzheimer's disease. 61
31964863 2020
Analysis of different post mortem assessment methods for cerebral edema. 61
32014814 2020
Neuro-Imaging Changes in Cerebral Palsy: A Cross Sectional Study. 61
31915347 2020
Plasma parameters and risk factors of patients with post-stroke cognitive impairment. 61
32005062 2020
Intervening Effects of Orthostatic Blood Pressure Change on Subcortical Atrophy and Cognition in De Novo and Drug-Naïve Parkinson's Disease. 61
31561388 2020
Decreased visible deep medullary veins is a novel imaging marker for cerebral small vessel disease. 61
31955350 2020
Automated Measurement of Cerebral Atrophy and Outcome in Endovascular Thrombectomy. 61
31558139 2019
Pay attention to the basal ganglia: a volumetric study in early dementia with Lewy bodies. 61
31864422 2019
Cerebral atrophy in 21 hypotonic infants with severe vitamin B12 deficiency. 61
31868292 2019
[Clinical and neuroimaging features in 6 patients with corticobasal syndrome]. 61
31775454 2019
Incidental Findings Identified on Head MRI for Investigation of Cognitive Impairment: A Retrospective Review. 61
31805574 2019
Longitudinal brain atrophy distribution in advanced Parkinson's disease: What makes the difference in "cognitive status" converters? 61
31789477 2019
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 2019
Associations of Radiographic Cerebral Small Vessel Disease with Acute Intracerebral Hemorrhage Volume, Hematoma Expansion, and Intraventricular Hemorrhage. 61
31845173 2019
When Does Alzheimer's Disease Really Start? The Role of Biomarkers. 61
31698826 2019
Mixed-location cerebral microbleeds as a biomarker of neurodegeneration in a memory clinic population. 61
31767809 2019
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. 61
31685998 2019
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome. 61
31392520 2019
Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency. 61
31766059 2019
Genotype-phenotype correlation on 45 individuals with West syndrome. 61
31791873 2019
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification. 61
31403263 2019
Abnormalities of brain imaging in patients after left ventricular assist device support following explantation. 61
31843457 2019
The epileptology of GNB5 encephalopathy. 61
31631344 2019
Biological and imaging predictors of cognitive impairment after stroke: a systematic review. 61
30350168 2019
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 2019
[A phenotypic and genetic study on β-propeller protein-associated neurodegeneration]. 61
31665836 2019
Assessment of endothelial function in patients with initial manifestations of chronic cerebral ischemia 61
31982015 2019
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis. 61
31418091 2019
Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report. 61
31617495 2019
Impact of Cerebral Small Vessel Disease on Functional Recovery After Intracerebral Hemorrhage. 61
31446887 2019
T2-highlighted U-fibres and rapid parenchymal volume loss in AESD: An under-recognised subtype of paediatric acute encephalopathy syndromes. 61
31589888 2019
Association between bone mineral density and brain parenchymal atrophy and ventricular enlargement in healthy individuals. 61
31575827 2019
Diagnostic challenge of rapidly progressing sporadic Creutzfeldt-Jakob disease. 61
31551319 2019
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. 61
31152168 2019
Alternating flexed-extended posturing in progressive supranuclear palsy. 61
31579148 2019
Subacute sclerosing panencephalitis. 61
31237061 2019
A pragmatic approach to intravenous anaesthetics and electroencephalographic endpoints for the treatment of refractory and super-refractory status epilepticus in critical care. 61
31623937 2019
Additive effect of cerebral atrophy on cognition in dementia-free elderly with cerebrovascular disease. 61
31709119 2019
Biomarker-Based Prediction of Progression to Dementia: F-18 FDG-PET in Amnestic MCI. 61
31744965 2019
The Shrinking Brain: Cerebral Atrophy Following Traumatic Brain Injury. 61
30341741 2019
Encephalopathy induced by Alzheimer brain inoculation in a non-human primate. 61
31481130 2019
A validated natural language processing algorithm for brain imaging phenotypes from radiology reports in UK electronic health records. 61
31500613 2019
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 61
31134736 2019
Mandibulofacial dysostosis with microcephaly: a syndrome to remember. 61
31413053 2019
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. 61
31231989 2019
Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia. 61
31523596 2019

Variations for Cerebral Atrophy

ClinVar genetic disease variations for Cerebral Atrophy:

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

Expression for Cerebral Atrophy

Search GEO for disease gene expression data for Cerebral Atrophy.

Pathways for Cerebral Atrophy

GO Terms for Cerebral Atrophy

Cellular components related to Cerebral Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of endoplasmic reticulum membrane GO:0030176 8.62 CLN3 ACER3

Biological processes related to Cerebral Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome organization GO:0007040 8.96 CLN6 CLN3
2 lysosomal lumen acidification GO:0007042 8.62 CLN6 CLN3

Sources for Cerebral Atrophy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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