FTDALS1
MCID: FRN044
MIFTS: 56

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 (FTDALS1)

Categories: Bone diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

MalaCards integrated aliases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

Name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 57 12 74
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 57 12 74 13
Ftdals1 57 12 74 15
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 29 6 72
Frontotemporal Dementia and/or Motor Neuron Disease 57 12 74
Ftdmnd 57 12 74
Alsftd 57 12 74
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 57 29
Frontotemporal Dementia with Motor Neuron Disease 59 72
Frontotemporal Lobar Degeneration 44 72
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis; Ftdals 57
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia; Alsftd 57
Dementia, Frontotemporal, and/or Amyotrophic Lateral Sclerosis 40
Frontotemporal Dementia and/or Motor Neuron Disease; Ftdmnd 57
Frontotemporal Dementia with Amyotrophic Lateral Sclerosis 59
Amyotrophic Lateral Sclerosis/frontotemporal Dementia 6
Grn-Related Frontotemporal Dementia 72
Ftd-Als 59
Ftd-Mnd 59
Ftdals 57

Characteristics:

Orphanet epidemiological data:

59
frontotemporal dementia with motor neuron disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

OMIM:

57
Miscellaneous:
rapidly progressive
onset in adulthood
patients can have als, ftd, or both
intrafamilial variability

Inheritance:
autosomal dominant


HPO:

32
frontotemporal dementia and/or amyotrophic lateral sclerosis 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset rapidly progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060213
UMLS via Orphanet 73 C3888102
Orphanet 59 ORPHA275872
UMLS 72 C0751072 C1862937 C3811918 more

Summaries for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

OMIM : 57 Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by Vance et al., 2006). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by Harms et al., 2013). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia (Meisler et al., 2013; Gomez-Tortosa et al., 2013). For a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see 600274. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1; 105400). (105550)

MalaCards based summary : Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1, also known as amyotrophic lateral sclerosis and/or frontotemporal dementia, is related to amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and perry syndrome, and has symptoms including muscle weakness, abnormality of extrapyramidal motor function and paraparesis. An important gene associated with Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 is C9orf72 (C9orf72-SMCR8 Complex Subunit), and among its related pathways/superpathways is Mitophagy - animal. The drugs Memantine and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and spinal cord, and related phenotypes are frontotemporal dementia and abnormal upper motor neuron morphology

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.

UniProtKB/Swiss-Prot : 74 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1: An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.

Related Diseases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Diseases in the Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 family:

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4

Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 33.5 TARDBP OPTN FUS
2 perry syndrome 32.9 TARDBP GRN C9orf72
3 pick disease of brain 32.6 TARDBP SQSTM1 MAPT GRN FUS
4 semantic dementia 32.4 TMEM106B TARDBP MAPT GRN CHMP2B C9orf72
5 progressive non-fluent aphasia 32.3 VCP TMEM106B MAPT GRN CHMP2B C9orf72
6 apraxia 31.3 MAPT GRN C9orf72
7 paget's disease of bone 31.0 VCP SQSTM1 OPTN
8 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 31.0 MAPT GRN
9 speech and communication disorders 30.9 TARDBP MAPT GRN C9orf72
10 inclusion body myopathy with paget disease of bone and frontotemporal dementia 30.9 VCP TARDBP
11 mutism 30.9 GRN CHMP2B
12 ideomotor apraxia 30.7 MAPT GRN
13 behavioral variant of frontotemporal dementia 30.6 VCP TMEM106B SQSTM1 MAPT GRN CHMP2B
14 agraphia 30.5 TARDBP MAPT GRN
15 aphasia 30.5 MAPT GRN CHMP2B C9orf72
16 echolalia 30.5 MAPT GRN
17 nominal aphasia 30.5 TARDBP MAPT GRN CHMP2B
18 dementia, lewy body 30.4 TARDBP MAPT GRN
19 inclusion body myositis 30.4 VCP TARDBP SQSTM1 MAPT
20 tremor 30.4 MAPT FUS ATXN2
21 lateral sclerosis 28.7 VCP UBQLN2 TBK1 TARDBP SQSTM1 OPTN
22 motor neuron disease 28.5 VCP TBK1 TARDBP SQSTM1 OPTN MAPT
23 dementia 28.3 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
24 frontotemporal dementia 27.7 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
25 amyotrophic lateral sclerosis 1 24.8 WDR41 VCP UNC13A UBQLN2 TMEM106B TBK1
26 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 13.2
27 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 11.3
28 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 11.3
29 alzheimer disease 11.1
30 corticobasal degeneration 11.0
31 supranuclear palsy, progressive, 1 10.9
32 phonagnosia 10.6 TARDBP GRN
33 postpoliomyelitis syndrome 10.6 VCP TARDBP
34 associative agnosia 10.6 TARDBP GRN
35 frontotemporal dementia, chromosome 3-linked 10.6
36 expressive language disorder 10.6 TARDBP FUS
37 amyotrophic lateral sclerosis type 6 10.5 TARDBP FUS
38 amyotrophic lateral sclerosis 18 10.5 TARDBP FUS C9orf72
39 multiple system atrophy 1 10.5
40 cerebral atrophy 10.5
41 writing disorder 10.5 TARDBP GRN
42 tardbp-related amyotrophic lateral sclerosis 10.5
43 brown-vialetto-van laere syndrome 10.5 UBQLN2 TARDBP C9orf72
44 primary lateral sclerosis, adult, 1 10.4
45 progressive muscular atrophy 10.4 TARDBP C9orf72
46 neuronal ceroid lipofuscinosis 10.4
47 major affective disorder 8 10.3
48 major affective disorder 9 10.3
49 amnestic disorder 10.3
50 pseudobulbar palsy 10.3

Graphical network of the top 20 diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:



Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Symptoms & Phenotypes for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Human phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontotemporal dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002145
2 abnormal upper motor neuron morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002127
3 abnormal lower motor neuron morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002366
4 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
5 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
6 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
7 hallucinations 59 32 frequent (33%) Frequent (79-30%) HP:0000738
8 apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0002186
9 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
10 proximal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003701
11 degeneration of the lateral corticospinal tracts 59 32 frequent (33%) Frequent (79-30%) HP:0002314
12 generalized amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003700
13 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
14 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
15 gliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002171
16 apathy 59 32 frequent (33%) Frequent (79-30%) HP:0000741
17 tetraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0002273
18 paraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0002385
19 dyscalculia 59 32 frequent (33%) Frequent (79-30%) HP:0002442
20 neuronal loss in the cerebral cortex 59 32 frequent (33%) Frequent (79-30%) HP:0007190
21 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
22 fasciculations 59 32 occasional (7.5%) Occasional (29-5%) HP:0002380
23 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
24 disinhibition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000734
25 bulbar palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001283
26 supranuclear gaze palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000605
27 abnormal mitochondrial morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0008322
28 bilateral sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008619
29 mutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002300
30 global brain atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002283
31 perseveration 59 32 occasional (7.5%) Occasional (29-5%) HP:0030223
32 ptosis 59 32 very rare (1%) Very rare (<4-1%) HP:0000508
33 muscle weakness 32 HP:0001324
34 behavioral abnormality 59 Frequent (79-30%)
35 skeletal muscle atrophy 32 HP:0003202
36 amyotrophic lateral sclerosis 32 HP:0007354
37 abnormality of extrapyramidal motor function 59 Frequent (79-30%)
38 cerebral atrophy 32 HP:0002059
39 neuronal loss in central nervous system 32 HP:0002529
40 extrapyramidal dyskinesia 32 HP:0007308
41 delusions 32 HP:0000746
42 weakness due to upper motor neuron dysfunction 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hallucinations
apraxia
parkinsonism
gliosis
more
Neurologic Behavioral Psychiatric Manifestations:
apathy
depression
executive dysfunction
poor judgement

Muscle Soft Tissue:
muscle weakness
muscle atrophy

Head And Neck Eyes:
supranuclear gaze palsy (less common)

Clinical features from OMIM:

105550

UMLS symptoms related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:


muscle weakness, abnormality of extrapyramidal motor function, paraparesis, quadriparesis

Drugs & Therapeutics for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Drugs for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 19982-08-2 4054
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
4
Citalopram Approved Phase 4 59729-33-8 2771
5 Neurotransmitter Agents Phase 4
6 Dopamine Agents Phase 4
7 Antiparkinson Agents Phase 4
8 Excitatory Amino Acid Antagonists Phase 4
9 Excitatory Amino Acids Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Narcotics Phase 4
13 Analgesics Phase 4
14 Narcotic Antagonists Phase 4
15 Central Nervous System Depressants Phase 4
16 Antipyretics Phase 4
17 Analgesics, Opioid Phase 4
18 Psychotropic Drugs Phase 4
19 Serotonin Uptake Inhibitors Phase 4
20 Antidepressive Agents, Second-Generation Phase 4
21 Antidepressive Agents Phase 4
22 Neurotransmitter Uptake Inhibitors Phase 4
23 Serotonin Agents Phase 4
24
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
25
Galantamine Approved Phase 2 357-70-0 9651
26 Catechol O-Methyltransferase Inhibitors Phase 2
27 Cardiotonic Agents Phase 2
28 Sympathomimetics Phase 2
29 Catechol Phase 2
30 Protective Agents Phase 2
31 Autonomic Agents Phase 2
32 Cholinesterase Inhibitors Phase 2
33 Cholinergic Agents Phase 2
34 Nootropic Agents Phase 2
35
Tyrosine Approved, Investigational, Nutraceutical Phase 1 60-18-4 6057
36
Corticosterone Experimental Phase 1 50-22-6 5753
37 Fluorodeoxyglucose F18 Phase 1
38 Radiopharmaceuticals Phase 1
39 Deoxyglucose Phase 1
40 Antibodies Phase 1
41 Immunoglobulins Phase 1
42 Antibodies, Monoclonal Phase 1
43 Tin Fluorides Phase 1
44
Dopamine Approved 51-61-6, 62-31-7 681
45 Tranquilizing Agents
46 Central Nervous System Stimulants
47 Antipsychotic Agents
48 Adjuvants, Immunologic
49 Anti-Infective Agents
50 Radiation-Protective Agents

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 A 52 Week Open Label Trial of Memantine for Frontotemporal Lobar Degeneration Completed NCT00187525 Phase 4 Memantine
2 Efficacy of Pain Treatment on Depression in Patients With Dementia. A Randomized Clinical Trial. Completed NCT02267057 Phase 4 Paracetamol;Buprenorphine;Paracetamol placebo;Buprenorphine placebo
3 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
4 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
5 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
6 An Open Pilot Study to Evaluate the Safety and Efficacy of Galantamine in the Treatment of Pick's Disease/Frontotemporal Dementia /Pick Complex Completed NCT00416169 Phase 2 galantamine hydrobromide
7 A 12 Week Randomized, Double Blind, Placebo-Controlled Pilot Study of Davunetide (NAP, AL-108) in Predicted Tauopathies Completed NCT01056965 Phase 1 davunetide (AL-108, NAP);Placebo nasal spray
8 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1 C-11 PiB;F-18 FDG
9 A Phase 1b, Randomized, Double-Blind, Placebo-Controlled, Parallel Cohort Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy Study of Intravenously Infused BIIB092 in Patients With Four Different Primary Tauopathy Syndromes Recruiting NCT03658135 Phase 1 BIIB092
10 Alzheimer's PET Imaging in Racially/Ethnically Diverse Adults Recruiting NCT03706261 Phase 1 18F-MK-6240;18F-Florbetaben
11 Open Label Study for the Use of Tyrosine Kinase Inhibitors for Treatment of Cognitive Decline Due to Degenerative Dementias Enrolling by invitation NCT02921477 Phase 1 bosutinib
12 Social Cognition in Ageing and in Frontotemporal Lobar Degeneration (Frontotemporal Dementia and Semantic Dementia): a Cognitive and Neuroimaging Study Unknown status NCT01962064
13 Identification of New Genes Causing Frontotemporal Lobar Degeneration by Whole Exome Sequencing and Characterization of the Associated Phenotypes Unknown status NCT02363062
14 A Non-Blinded, Non-Significant Risk Study With a Non-Invasive, Passive Pressure Wave Method of Diagnosing Brain Pathologies to Develop a Diagnostic Algorithm for Alzheimer Disease and Other Dementias. Unknown status NCT02333942
15 Innovative Biomarkers in Alzheimer's Disease and Frontotemporal Dementia (FTD): Preventative and Personalized Unknown status NCT01403519
16 Psycho-behavioral Disorders in Frontotemporal Lobar Degeneration: Validation of a Quantification and Follow-up Scale Completed NCT02889601
17 Neuropsychological and Anatomical Study of Concept Formation in Frontal Patients Completed NCT01100281
18 University of California, San Francisco (UCSF) and University of Nebraska Medical Center (UNMC) Care Ecosystem Completed NCT02213458
19 Treatment Study for Frontotemporal Dementia Completed NCT00088751
20 PET Evaluation of Brain Peripheral Benzodiazepine Receptors Using [11C]PBR28 in Neurological Disorders Completed NCT00613119
21 Assessment of Social-emotional Functioning in Stroke, Frontotemporal Dementia, Alzheimer and Parkinson Diseases Completed NCT01339130
22 Measurement of P-Glycoprotein Function in Alzheimer Disease, Parkinson Disease, and Frontotemporal Dementia Using Positron Emission Tomography Completed NCT00677885
23 Pilot Study of EEG and Cerebral Blood Flow Biofeedback Training in Remediating Cognitive and Behavioral Deficits in Adults With a Dementing Illness. Completed NCT01168466
24 Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Recruiting NCT03225144
25 Rare Diseases Clinical Research Network Advancing Research and Treatment for Frontotemporal Lobar Degeneration [ARTFL]: Research Projects 1 & 2 Recruiting NCT02365922
26 Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Recruiting NCT02590276
27 Multimodal Assessment For Predicting Specific Pathological Substrate in Frontotemporal Lobar Degeneration Recruiting NCT02964637
28 Assessing Changes in Social Cognition and Personality in Patients With Frontotemporal Lobar Degeneration, Alzheimer's Disease and Parkinson's Disease and Their Effect on the Patient-caregiver Relationship Recruiting NCT02964611
29 Multidisciplinary and Personalized Care of Behavioral Disorders in Frontotemporal Lobar Degeneration. Recruiting NCT03606798
30 Patients With Alzheimer's Disease or Related Youth Disease Recruiting NCT03508024
31 Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism. Recruiting NCT00821132
32 Family Studies in Neuromuscular Disorders Recruiting NCT01459302
33 Natural History Characterization in Symptomatic and Asymptomatic Progranuline Gene Mutation Carriers Recruiting NCT04014673
34 Language in Primary Progressive Aphasia Recruiting NCT00537004
35 Rehabilitative Trial for the Recovery of Neurophysiological Parameters in Progranulin Mutation Carriers Through the Use of Transcranial Direct Current Stimulation (tDCS) Recruiting NCT02999282
36 Assessment of Apathy in a Real-life Situation, With a Video and Sensors-based System in Healthy Subject and Patient With Cerebral Disease Recruiting NCT03272230
37 A Multi-centre Proof-of-performance Clinical Study to Validate Blood-based Biomarker Candidates for the Diagnosis of Alzheimer's Disease Recruiting NCT03030586
38 Natural History and Biomarkers of C9ORF72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Active, not recruiting NCT01925196
39 Communication Bridge Speech Therapy Research Study: Using Internet-Based Speech Therapy to Improve Quality of Life and Access to Care Active, not recruiting NCT02439853
40 Imaging Tau Deposition in the Brain of Elderly Subjects Enrolling by invitation NCT02958670
41 Biomarkers in Neurodegenerative Diseases Not yet recruiting NCT04055532
42 A Randomized, Double-blinded, Sham-controlled Cross-over Study of Theta-burst Transcranial Magnetic Stimulation in Nonfluent/Agrammatic Variant Primary Progressive Aphasia Not yet recruiting NCT03153540

Search NIH Clinical Center for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Cochrane evidence based reviews: frontotemporal lobar degeneration

Genetic Tests for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Genetic tests related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 29 C9orf72
2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 29

Anatomical Context for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

MalaCards organs/tissues related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

41
Brain, Temporal Lobe, Spinal Cord, Skeletal Muscle, Cortex, Bone, Testes

Publications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Articles related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

(show top 50) (show all 100)
# Title Authors PMID Year
1
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. 8 71
23393093 2013
2
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. 8 71
22739338 2013
3
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. 8 71
23111906 2013
4
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. 8 71
22692064 2013
5
C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration. 8 71
23284068 2013
6
Chromosome 9 ALS and FTD locus is probably derived from a single founder. 8 71
21925771 2012
7
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. 8 71
21944778 2011
8
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 8 71
21944779 2011
9
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. 8 71
21072532 2011
10
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. 8 71
20562461 2011
11
RNA phase transitions in repeat expansion disorders. 8
28562589 2017
12
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts. 8
27516603 2016
13
Is SIGMAR1 a confirmed FTD/MND gene? 8
26088964 2015
14
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. 8
26308899 2015
15
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. 8
26308891 2015
16
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. 71
25943890 2015
17
CHCHD10-Related Disorders 71
26131548 2015
18
Jump from pre-mutation to pathologic expansion in C9orf72. 8
26004200 2015
19
Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD. 8
25712133 2015
20
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. 71
25803835 2015
21
A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 71
25114083 2015
22
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia 71
25577942 2015
23
Identical twins with the C9orf72 repeat expansion are discordant for ALS. 8
25209579 2014
24
Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells. 8
25081482 2014
25
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. 8
25103406 2014
26
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 71
24899140 2014
27
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. 71
24934289 2014
28
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. 8
24706941 2014
29
Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. 71
24300238 2014
30
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. 71
23942205 2014
31
C9orf72 nucleotide repeat structures initiate molecular cascades of disease. 8
24598541 2014
32
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. 8
24057670 2014
33
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. 8
24363131 2014
34
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 71
24042580 2013
35
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. 8
24139042 2013
36
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. 8
24027057 2013
37
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. 8
23720273 2013
38
Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. 8
23731538 2013
39
C9ORF72 expansion in a family with bipolar disorder. 8
23551834 2013
40
The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. 8
23423380 2013
41
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. 8
23434116 2013
42
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. 8
22650353 2013
43
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. 8
23437264 2013
44
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. 8
22936364 2013
45
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. 8
22637429 2012
46
Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. 8
22637471 2012
47
C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia. 8
22964911 2012
48
Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. 8
22964910 2012
49
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. 8
22843265 2012
50
Exome sequencing identifies FUS mutations as a cause of essential tremor. 71
22863194 2012

Variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

ClinVar genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

6 (show top 50) (show all 121)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 C9orf72 NT expansion Pathogenic rs143561967 9:27573527-27573532 9:27573529-27573534
2 C9orf72 NM_001256054.1(C9orf72): c.-45+163_-45+168GGGGCC[(24_?)] NT expansion Pathogenic rs143561967 9:27573527-27573532 9:27573529-27573534
3 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 5:179260783-179260783 5:179833783-179833783
4 SQSTM1 NM_001142298.2(SQSTM1): c.923C> T (p.Pro308Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs104893941 5:179263445-179263445 5:179836445-179836445
5 SQSTM1 NM_001142298.2(SQSTM1): c.567A> G (p.Pro189=) single nucleotide variant Conflicting interpretations of pathogenicity rs200388590 5:179260096-179260096 5:179833096-179833096
6 SQSTM1 NM_001142298.2(SQSTM1): c.360A> G (p.Gly120=) single nucleotide variant Conflicting interpretations of pathogenicity rs878982215 5:179251262-179251262 5:179824262-179824262
7 C9orf72 NM_001256054.2(C9orf72): c.*1262A> C single nucleotide variant Uncertain significance rs886063833 9:27546972-27546972 9:27546974-27546974
8 C9orf72 NM_001256054.2(C9orf72): c.*673T> C single nucleotide variant Uncertain significance rs886063835 9:27547561-27547561 9:27547563-27547563
9 C9orf72 NM_001256054.2(C9orf72): c.*174C> T single nucleotide variant Uncertain significance rs146530591 9:27548060-27548060 9:27548062-27548062
10 C9orf72 NM_001256054.2(C9orf72): c.1260-16_1260-13dup duplication Uncertain significance rs1554659316 9:27548433-27548436 9:27548435-27548438
11 C9orf72 NM_001256054.2(C9orf72): c.1260-18_1260-14dup duplication Uncertain significance rs11292923 9:27548434-27548438 9:27548436-27548440
12 C9orf72 NM_001256054.2(C9orf72): c.1238T> C (p.Ile413Thr) single nucleotide variant Uncertain significance rs760887239 9:27548576-27548576 9:27548578-27548578
13 C9orf72 NM_001256054.2(C9orf72): c.-113C> G single nucleotide variant Uncertain significance rs750403732 9:27573775-27573775 9:27573777-27573777
14 C9orf72 NM_001256054.2(C9orf72): c.-115A> C single nucleotide variant Uncertain significance rs183102304 9:27573777-27573777 9:27573779-27573779
15 C9orf72 NM_001256054.2(C9orf72): c.-169dup duplication Uncertain significance rs886063847 9:27573831-27573831 9:27573833-27573833
16 C9orf72 NM_001256054.2(C9orf72): c.*794_*797del deletion Uncertain significance rs886063834 9:27547437-27547440 9:27547439-27547442
17 C9orf72 NM_001256054.2(C9orf72): c.*317A> G single nucleotide variant Uncertain significance rs886063839 9:27547917-27547917 9:27547919-27547919
18 SQSTM1 NM_001142298.2(SQSTM1): c.-47-1818C> G single nucleotide variant Uncertain significance rs1449269769 5:179248140-179248140 5:179821140-179821140
19 C9orf72 NM_001256054.2(C9orf72): c.*552A> C single nucleotide variant Uncertain significance rs886063837 9:27547682-27547682 9:27547684-27547684
20 C9orf72 NM_001256054.2(C9orf72): c.*356T> G single nucleotide variant Uncertain significance rs886063838 9:27547878-27547878 9:27547880-27547880
21 C9orf72 NM_001256054.2(C9orf72): c.1260-12dup duplication Uncertain significance rs749166700 9:27548432-27548432 9:27548434-27548434
22 C9orf72 NM_001256054.2(C9orf72): c.1260-14_1260-13del deletion Uncertain significance rs886063842 9:27548433-27548434 9:27548435-27548436
23 C9orf72 NM_001256054.2(C9orf72): c.1260-15_1260-13del deletion Uncertain significance rs886063843 9:27548433-27548435 9:27548435-27548437
24 C9orf72 NM_001256054.2(C9orf72): c.1260-16_1260-14dup duplication Uncertain significance rs11292923 9:27548434-27548436 9:27548436-27548438
25 C9orf72 NM_001256054.2(C9orf72): c.1260-14del deletion Uncertain significance rs11292923 9:27548434-27548434 9:27548436-27548436
26 SQSTM1 NM_003900.4(SQSTM1): c.970delG (p.Glu324Asnfs) deletion Uncertain significance rs758377403 5:179260587-179260587 5:179833587-179833587
27 SQSTM1 NM_001142298.2(SQSTM1): c.278A> C (p.Glu93Ala) single nucleotide variant Uncertain significance rs1392938040 5:179251086-179251086 5:179824086-179824086
28 SQSTM1 NM_001142298.2(SQSTM1): c.459_461GAA[1] (p.Lys154del) short repeat Uncertain significance rs796052214 5:179252186-179252188 5:179825186-179825188
29 C9orf72 NM_001256054.2(C9orf72): c.-173A> G single nucleotide variant Uncertain significance rs886063848 9:27573835-27573835 9:27573837-27573837
30 C9orf72 NM_001256054.2(C9orf72): c.-47G> A single nucleotide variant Uncertain significance rs886063846 9:27573709-27573709 9:27573711-27573711
31 C9orf72 NM_001256054.2(C9orf72): c.792G> T (p.Arg264Ser) single nucleotide variant Uncertain significance rs886063845 9:27558552-27558552 9:27558554-27558554
32 SQSTM1 NM_001142298.2(SQSTM1): c.511G> A (p.Val171Ile) single nucleotide variant Uncertain significance 5:179260040-179260040 5:179833040-179833040
33 SQSTM1 NM_001142298.2(SQSTM1): c.205G> A (p.Val69Ile) single nucleotide variant Uncertain significance 5:179251013-179251013 5:179824013-179824013
34 SQSTM1 NM_001142298.2(SQSTM1): c.-47-1916G> A single nucleotide variant Uncertain significance 5:179248042-179248042 5:179821042-179821042
35 C9orf72 NM_001256054.2(C9orf72): c.1260-13_1260-12insTT insertion Uncertain significance rs772249544 9:27548432-27548433 9:27548434-27548435
36 C9orf72 NM_001256054.2(C9orf72): c.1260-13_1260-12insT insertion Uncertain significance rs772249544 9:27548432-27548433 9:27548434-27548435
37 C9orf72 NM_001256054.2(C9orf72): c.1260-12_1260-11insT insertion Uncertain significance rs1554659312 9:27548431-27548432 9:27548433-27548434
38 C9orf72 NM_001256054.2(C9orf72): c.1426G> C (p.Asp476His) single nucleotide variant Uncertain significance rs767272170 9:27548254-27548254 9:27548256-27548256
39 C9orf72 NM_001256054.2(C9orf72): c.*122G> A single nucleotide variant Uncertain significance rs549202876 9:27548112-27548112 9:27548114-27548114
40 C9orf72 NM_001256054.2(C9orf72): c.*250T> C single nucleotide variant Uncertain significance rs886063840 9:27547984-27547984 9:27547986-27547986
41 C9orf72 NM_001256054.2(C9orf72): c.*73G> A single nucleotide variant Uncertain significance rs886063841 9:27548161-27548161 9:27548163-27548163
42 C9orf72 NM_001256054.2(C9orf72): c.1424G> A (p.Arg475Gln) single nucleotide variant Uncertain significance rs750045383 9:27548256-27548256 9:27548258-27548258
43 C9orf72 NM_001256054.2(C9orf72): c.1260-17_1260-14dup duplication Uncertain significance rs11292923 9:27548434-27548437 9:27548436-27548439
44 C9orf72 NM_001256054.2(C9orf72): c.1260-14dup duplication Uncertain significance rs11292923 9:27548434-27548434 9:27548436-27548436
45 C9orf72 NM_001256054.2(C9orf72): c.*577G> C single nucleotide variant Uncertain significance rs886063836 9:27547657-27547657 9:27547659-27547659
46 SQSTM1 NM_001142298.2(SQSTM1): c.754G> A (p.Asp252Asn) single nucleotide variant Uncertain significance rs1554091442 5:179260623-179260623 5:179833623-179833623
47 SQSTM1 NM_001142298.2(SQSTM1): c.-47-1900C> T single nucleotide variant Uncertain significance rs745356508 5:179248058-179248058 5:179821058-179821058
48 SQSTM1 NM_001142298.2(SQSTM1): c.550C> G (p.Leu184Val) single nucleotide variant Uncertain significance rs753685955 5:179260079-179260079 5:179833079-179833079
49 SQSTM1 NM_001142298.2(SQSTM1): c.431C> T (p.Pro144Leu) single nucleotide variant Uncertain significance rs151191977 5:179252155-179252155 5:179825155-179825155
50 SQSTM1 NM_001142298.2(SQSTM1): c.-47-1936C> G single nucleotide variant Uncertain significance rs1012113887 5:179248022-179248022 5:179821022-179821022

Copy number variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 112794 17 41065963 41505032 Insertion CRHR1 Frontotemporal lobar degeneration
2 112795 17 41065963 41505032 Insertion IMP5 Frontotemporal lobar degeneration
3 112796 17 41065963 41505032 Insertion MAPT Frontotemporal lobar degeneration
4 112797 17 41065963 41505032 Insertion STH Frontotemporal lobar degeneration
5 113644 17 44900000 47400000 Deletion GRN Frontotemporal lobar degeneration
6 112169 17 38100000 38400000 Deletion MAPT Frontotemporal lobar degeneration

Expression for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Search GEO for disease gene expression data for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1.

Pathways for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Pathways related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.61 TBK1 SQSTM1 OPTN

GO Terms for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Cellular components related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.85 UBQLN2 SQSTM1 OPTN IFT74 C9orf72
2 endosome GO:0005768 9.73 TMEM106B SQSTM1 OPTN GRN CHMP2B C9orf72
3 lysosome GO:0005764 9.72 TMEM106B SQSTM1 GRN CHMP2B C9orf72
4 cytoplasmic stress granule GO:0010494 9.54 VCP C9orf72 ATXN2
5 autophagosome GO:0005776 9.46 UBQLN2 SQSTM1 OPTN C9orf72
6 main axon GO:0044304 9.4 MAPT C9orf72
7 guanyl-nucleotide exchange factor complex GO:0032045 9.13 WDR41 SMCR8 C9orf72
8 Atg1/ULK1 kinase complex GO:1990316 8.8 WDR41 SMCR8 C9orf72
9 cytoplasm GO:0005737 10.28 WDR41 VCP UNC13A UBQLN2 TBK1 TARDBP

Biological processes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.71 TBK1 TARDBP SMCR8 MAPT
2 macroautophagy GO:0016236 9.61 VCP SQSTM1 CHMP2B
3 regulation of autophagy GO:0010506 9.46 WDR41 SMCR8 MAPT C9orf72
4 regulation of autophagosome assembly GO:2000785 9.37 UBQLN2 C9orf72
5 regulation of TORC1 signaling GO:1903432 9.32 SMCR8 C9orf72
6 positive regulation of xenophagy GO:1904417 9.26 TBK1 OPTN
7 autophagy GO:0006914 9.23 WDR41 VCP UBQLN2 SQSTM1 SMCR8 OPTN
8 stress granule assembly GO:0034063 9.13 MAPT C9orf72 ATXN2

Molecular functions related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.7 VCP TBK1 TARDBP SQSTM1 OPTN MAPT
2 protein binding GO:0005515 9.58 WDR41 VCP UBQLN2 TMEM106B TBK1 TARDBP
3 polyubiquitin modification-dependent protein binding GO:0031593 9.32 VCP OPTN
4 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.26 SQSTM1 OPTN
5 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.13 WDR41 SMCR8 C9orf72

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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69 SNOMED-CT via HPO
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71 Tocris
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73 UMLS via Orphanet
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