FTDALS1
MCID: FRN044
MIFTS: 64

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 72
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 57 12 72 13
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 29 6 70
Frontotemporal Dementia and/or Motor Neuron Disease 57 12 72
Ftdals1 57 12 72
Ftdmnd 57 12 72
Alsftd 57 12 72
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-1 12 15
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 57 29
Frontotemporal Dementia with Motor Neuron Disease 58 70
Frontotemporal Lobar Degeneration 44 70
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 39
Frontotemporal Dementia and/or Motor Neuron Disease; Ftdmnd 57
Frontotemporal Dementia with Amyotrophic Lateral Sclerosis 58
Frontotemporal Dementia and Amyotrophic Lateral Sclerosis 36
Amyotrophic Lateral Sclerosis/frontotemporal Dementia 6
Grn-Related Frontotemporal Dementia 70
Ftd-Als 58
Ftd-Mnd 58
Ftdals 57

Characteristics:

Orphanet epidemiological data:

58
frontotemporal dementia with motor neuron disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
rapidly progressive
onset in adulthood
patients can have als, ftd, or both
intrafamilial variability

Inheritance:
autosomal dominant


HPO:

31
frontotemporal dementia and/or amyotrophic lateral sclerosis 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


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). Ranganathan et al. (2020) provided a detailed review of the genes involved in different forms of FTDALS, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegeneration. 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) (Updated 20-May-2021)

MalaCards based summary : Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1, also known as amyotrophic lateral sclerosis and/or frontotemporal dementia, is related to frontotemporal dementia and/or amyotrophic lateral sclerosis 2 and c9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis, 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 are Pathways of neurodegeneration - multiple diseases and Neuroscience. The drugs Citalopram and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include bone, temporal lobe and spinal cord, and related phenotypes are abnormal upper motor neuron morphology and frontotemporal dementia

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.

KEGG : 36 Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported to be associated with both diseases (FTDALS). Genes linked to both diseases may converge into a common pathogenetic pathway, explaining the overlap of clinical symptoms.

UniProtKB/Swiss-Prot : 72 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 7 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 5

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 217)
# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 34.1 FUS CHCHD10 C9orf72
2 c9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis 33.2 LOC109504728 C9orf72
3 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 33.0 UBQLN2 TARDBP SOD1 OPTN FUS CHMP2B
4 progressive non-fluent aphasia 32.8 VCP TMEM106B TBK1 MAPT GRN CHMP2B
5 perry syndrome 32.6 VCP TMEM106B TARDBP MAPT GRN CHMP2B
6 semantic dementia 32.4 TMEM106B TARDBP MAPT GRN CHMP2B C9orf72
7 corticobasal degeneration 32.2 TBK1 MAPT
8 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 32.1 TBK1 TARDBP KIF5A
9 alzheimer disease 32.1 VCP TARDBP SQSTM1 SOD1 OPTN MAPT
10 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 32.1 TARDBP SQSTM1 MRNIP FUS C9orf72
11 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 32.1 VCP TARDBP MAPT GRN FUS CHMP2B
12 supranuclear palsy, progressive, 1 32.0 VCP TMEM106B TARDBP SOD1 MAPT GRN
13 apraxia 31.8 MAPT GRN C9orf72
14 speech and communication disorders 31.4 VCP TMEM106B TARDBP MAPT GRN FUS
15 pick disease of brain 31.4 VCP UBQLN2 TMEM106B TARDBP SQSTM1 SOD1
16 paget's disease of bone 31.3 VCP SQSTM1 OPTN C9orf72
17 mild cognitive impairment 31.2 SOD1 MAPT
18 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 31.2 MAPT GRN
19 nominal aphasia 31.1 VCP TARDBP MAPT GRN FUS CHMP2B
20 fragile x-associated tremor/ataxia syndrome 31.1 UBQLN2 FUS C9orf72 ATXN2
21 machado-joseph disease 31.1 VCP TARDBP SQSTM1 ATXN2
22 multisystem proteinopathy 31.1 VCP UBQLN2 TARDBP SQSTM1 OPTN FUS
23 lateral sclerosis 31.1 VCP UBQLN2 TBK1 TARDBP SQSTM1 SOD1
24 motor neuron disease 31.1 VCP UBQLN2 TBK1 TARDBP SQSTM1 SOD1
25 movement disease 31.1 VCP TARDBP MAPT GRN FUS CHMP2B
26 aphasia 31.0 VCP TMEM106B TBK1 TARDBP OPTN MAPT
27 dyscalculia 31.0 VCP TARDBP MAPT GRN CHMP2B
28 mutism 31.0 TARDBP MAPT GRN CHMP2B C9orf72
29 autosomal dominant cerebellar ataxia 31.0 VCP UBQLN2 TARDBP SOD1 MAPT FUS
30 frontotemporal dementia 31.0 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
31 huntington disease 30.9 TARDBP SQSTM1 SOD1 MAPT C9orf72
32 amyotrophic lateral sclerosis 1 30.9 WDR41 VCP UBQLN2 TMEM106B TBK1 TARDBP
33 dementia 30.9 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
34 spastic paraplegia-paget disease of bone syndrome 30.9 VCP SQSTM1
35 alexia 30.8 VCP TARDBP MAPT GRN
36 echolalia 30.8 MAPT GRN C9orf72
37 inclusion body myositis 30.8 VCP TARDBP SQSTM1 MAPT
38 agraphia 30.8 VCP TARDBP MAPT GRN C9orf72
39 ideomotor apraxia 30.8 TARDBP MAPT GRN FUS C9orf72
40 prosopagnosia 30.8 TARDBP MAPT GRN CHMP2B C9orf72
41 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 30.8 VCP FUS
42 dysgraphia 30.8 TARDBP MAPT GRN FUS CHMP2B C9orf72
43 paget disease of bone 3 30.8 SQSTM1 MRNIP
44 inclusion body myopathy with paget disease of bone and frontotemporal dementia 30.8 VCP UBQLN2 TARDBP SQSTM1 FUS CHMP2B
45 akinetic mutism 30.8 TARDBP MAPT
46 speech disorder 30.7 MAPT GRN C9orf72
47 dystonia 30.7 SQSTM1 GRN FUS CHMP2B C9orf72
48 dementia, lewy body 30.7 VCP TMEM106B TARDBP SQSTM1 SOD1 MAPT
49 hereditary spastic paraplegia 30.6 VCP UBQLN2 TBK1 LOC109504728 KIF5A C9orf72
50 grn-related frontotemporal lobar degeneration 11.9

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:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal upper motor neuron morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002127
2 frontotemporal dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002145
3 abnormal lower motor neuron morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002366
4 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
5 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
6 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
7 hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0000738
8 tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002273
9 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
10 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
11 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
12 generalized amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003700
13 paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002385
14 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
15 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
16 apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0002186
17 dyscalculia 58 31 frequent (33%) Frequent (79-30%) HP:0002442
18 gliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002171
19 neuronal loss in the cerebral cortex 58 31 frequent (33%) Frequent (79-30%) HP:0007190
20 degeneration of the lateral corticospinal tracts 58 31 frequent (33%) Frequent (79-30%) HP:0002314
21 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
22 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
23 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
24 disinhibition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000734
25 abnormal mitochondrial morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0008322
26 bilateral sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008619
27 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
28 bulbar palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001283
29 supranuclear gaze palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000605
30 perseveration 58 31 occasional (7.5%) Occasional (29-5%) HP:0030223
31 global brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002283
32 ptosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000508
33 muscle weakness 31 HP:0001324
34 behavioral abnormality 58 Frequent (79-30%)
35 skeletal muscle atrophy 31 HP:0003202
36 abnormality of extrapyramidal motor function 58 Frequent (79-30%)
37 cerebral atrophy 31 HP:0002059
38 neuronal loss in central nervous system 31 HP:0002529
39 extrapyramidal dyskinesia 31 HP:0007308
40 amyotrophic lateral sclerosis 31 HP:0007354
41 delusions 31 HP:0000746
42 weakness due to upper motor neuron dysfunction 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
hallucinations
paraparesis
parkinsonism
apraxia
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 (Updated 20-May-2021)

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


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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased influenza A virus infection GR00147-A-1 9.1 CHMP2B FUS MRNIP
2 Decreased influenza A virus infection GR00147-A-2 9.1 CHMP2B FUS MRNIP

MGI Mouse Phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 ATXN2 C9orf72 CHCHD10 GRN KIF5A MAPT
2 homeostasis/metabolism MP:0005376 10.24 ATXN2 C9orf72 CHCHD10 CHMP2B GRN KIF5A
3 hematopoietic system MP:0005397 10.22 C9orf72 CHCHD10 CHMP2B GRN MAPT SMCR8
4 cellular MP:0005384 10.17 C9orf72 CHCHD10 GRN KIF5A MAPT SMCR8
5 immune system MP:0005387 10.17 C9orf72 CHCHD10 CHMP2B GRN MAPT OPTN
6 integument MP:0010771 9.91 C9orf72 GRN KIF5A MAPT SOD1 SQSTM1
7 mortality/aging MP:0010768 9.77 ATXN2 C9orf72 CHCHD10 CHMP2B GRN KIF5A
8 liver/biliary system MP:0005370 9.7 ATXN2 C9orf72 CHMP2B GRN SOD1 SQSTM1
9 nervous system MP:0003631 9.4 ATXN2 C9orf72 CHCHD10 CHMP2B GRN KIF5A

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 all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Memantine Approved, Investigational Phase 4 19982-08-2 4054
4
Dexetimide Withdrawn Phase 4 21888-98-2
5 Psychotropic Drugs Phase 4
6 Neurotransmitter Agents Phase 4
7 Serotonin Uptake Inhibitors Phase 4
8 Antidepressive Agents Phase 4
9 Antiparkinson Agents Phase 4
10 Dopamine Agents Phase 4
11 Excitatory Amino Acid Antagonists Phase 4
12
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
13
Tolcapone Approved, Withdrawn Phase 2 134308-13-7 4659569
14
Galantamine Approved Phase 2 357-70-0 9651
15 Catechol Phase 2
16 Cholinesterase Inhibitors Phase 2
17 Cholinergic Agents Phase 2
18 Nootropic Agents Phase 2
19 Immunoglobulins Phase 1
20 Antibodies Phase 1
21 Antibodies, Monoclonal Phase 1
22 Central Nervous System Stimulants
23 Antipsychotic Agents
24 polysaccharide-K

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
2 A 52 Week Open Label Trial of Memantine for Frontotemporal Lobar Degeneration Completed NCT00187525 Phase 4 Memantine
3 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
4 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
5 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
6 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 Terminated NCT03658135 Phase 1 BIIB092
7 Identification of New Genes Causing Frontotemporal Lobar Degeneration by Whole Exome Sequencing and Characterization of the Associated Phenotypes Unknown status NCT02363062
8 Social Cognition in Ageing and in Frontotemporal Lobar Degeneration (Frontotemporal Dementia and Semantic Dementia): a Cognitive and Neuroimaging Study Unknown status NCT01962064
9 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 Unknown status NCT02964611
10 Multimodal Assessment For Predicting Specific Pathological Substrate in Frontotemporal Lobar Degeneration Unknown status NCT02964637
11 Communication Bridge Speech Therapy Research Study: Using Internet-Based Speech Therapy to Improve Quality of Life and Access to Care Completed NCT02439853
12 Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Completed NCT02590276
13 PET Evaluation of Brain Peripheral Benzodiazepine Receptors Using [11C]PBR28 in Neurological Disorders Completed NCT00613119
14 Psycho-behavioral Disorders in Frontotemporal Lobar Degeneration: Validation of a Quantification and Follow-up Scale Completed NCT02889601
15 Treatment Study for Frontotemporal Dementia Completed NCT00088751
16 Natural History and Biomarkers of C9ORF72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Completed NCT01925196
17 Measurement of P-Glycoprotein Function in Alzheimer Disease, Parkinson Disease, and Frontotemporal Dementia Using Positron Emission Tomography Completed NCT00677885
18 Patients With Alzheimer's Disease or Related Youth Disease Completed NCT03508024
19 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. Completed NCT02333942
20 University of California, San Francisco (UCSF) and University of Nebraska Medical Center (UNMC) Care Ecosystem Completed NCT02213458
21 Rehabilitative Trial for the Recovery of Neurophysiological Parameters in Progranulin Mutation Carriers Through the Use of Transcranial Direct Current Stimulation (tDCS) Completed NCT02999282
22 Language in Primary Progressive Aphasia Recruiting NCT00537004
23 Multidisciplinary and Personalized Care of Behavioral Disorders in Frontotemporal Lobar Degeneration. Recruiting NCT03606798
24 Natural History Characterization in Symptomatic and Asymptomatic Progranuline Gene Mutation Carriers Recruiting NCT04014673
25 ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) Recruiting NCT04363684
26 Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Recruiting NCT03225144
27 Rare Diseases Clinical Research Network Advancing Research and Treatment for Frontotemporal Lobar Degeneration [ARTFL]: Research Projects 1 & 2 Recruiting NCT02365922
28 Remote Blood Biomarker Monitoring in Frontotemporal Lobar Degeneration: Neurofilament Surveillance Project (NSP) Recruiting NCT04516499
29 University of Pennsylvania Centralized Observational Research Repository on Neurodegenerative Disease (UNICORN) Recruiting NCT04715399
30 A Multi-centre Proof-of-performance Clinical Study to Validate Blood-based Biomarker Candidates for the Diagnosis of Alzheimer's Disease Recruiting NCT03030586
31 Care Ecosystem: Navigating Patients and Families Through Stages of Care, Extension Trial Active, not recruiting NCT04287738
32 A Pilot Study Assessing the Benefits of a Dementia Caregiver Educational Brochure on Decreased Empathy and Emotion Recognition in Patients With Neurodegenerative Disease Enrolling by invitation NCT04635540
33 Biomarkers in Neurodegenerative Diseases Withdrawn NCT04055532

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:

40
Bone, Temporal Lobe, Spinal Cord, Brain, Cortex, Skeletal Muscle, Myeloid

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 212)
# Title Authors PMID Year
1
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. 57 6
23393093 2013
2
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. 57 6
22739338 2013
3
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. 57 6
23111906 2013
4
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. 6 57
22692064 2013
5
C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration. 6 57
23284068 2013
6
Chromosome 9 ALS and FTD locus is probably derived from a single founder. 57 6
21925771 2012
7
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. 6 57
21944778 2011
8
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 57 6
21944779 2011
9
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. 57 6
21072532 2011
10
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. 57 6
20562461 2011
11
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. 57 6
12840784 2003
12
C9orf72 in myeloid cells suppresses STING-induced inflammation. 57
32814898 2020
13
Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. 57
32733193 2020
14
p.N345K mutation in TARDBP in a patient with familial amyotrophic lateral sclerosis: An autopsy case. 6
31124595 2019
15
FUS-ALS presenting with myoclonic jerks in a 17-year-old man. 6
30879340 2019
16
Amyotrophic Lateral Sclerosis associated FUS mutation shortens mitochondria and induces neurotoxicity. 6
30349096 2018
17
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. 6
29959261 2018
18
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence? 6
30014597 2018
19
A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS. 6
29789341 2018
20
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency. 6
29315381 2018
21
In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions. 6
29112723 2018
22
Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS. 6
29121267 2018
23
Three VCP Mutations in Patients with Frontotemporal Dementia. 6
30103325 2018
24
Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. 6
28692196 2018
25
Burden of rare variants in ALS genes influences survival in familial and sporadic ALS. 6
28709720 2017
26
The evolving genetic risk for sporadic ALS. 6
28642336 2017
27
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. 6
28430856 2017
28
Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity. 6
28585542 2017
29
RNA phase transitions in repeat expansion disorders. 57
28562589 2017
30
Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons. 6
28360103 2017
31
One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia. 6
27538664 2016
32
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. 6
27545679 2016
33
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts. 57
27516603 2016
34
Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response. 6
27226613 2016
35
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. 6
26105173 2016
36
De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia. 6
27123482 2016
37
Targeted next-generation sequencing assay for detection of mutations in primary myopathies. 6
26627873 2016
38
IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation. 6
27768726 2016
39
Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis. 6
26795035 2016
40
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort. 6
26581300 2015
41
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain. 6
26152333 2015
42
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts. 6
26476236 2015
43
Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains. 6
26555887 2015
44
Is SIGMAR1 a confirmed FTD/MND gene? 57
26088964 2015
45
ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation. 6
26452761 2015
46
Mutation analysis of CHCHD10 in different neurodegenerative diseases. 6
25833818 2015
47
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. 6
25681414 2015
48
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. 57
26308891 2015
49
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. 57
26308899 2015
50
Evolution of Paget's disease of bone in adults inheriting SQSTM1 mutations. 6
25664955 2015

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 869)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FUS NM_004960.3(FUS):c.1561C>G (p.Arg521Gly) SNV Pathogenic 16222 rs121909668 GRCh37: 16:31202739-31202739
GRCh38: 16:31191418-31191418
2 FUS NM_004960.3(FUS):c.1553G>A (p.Arg518Lys) SNV Pathogenic 16223 rs121909669 GRCh37: 16:31202731-31202731
GRCh38: 16:31191410-31191410
3 FUS NM_004960.3(FUS):c.1561C>T (p.Arg521Cys) SNV Pathogenic 16224 rs121909668 GRCh37: 16:31202739-31202739
GRCh38: 16:31191418-31191418
4 FUS NM_004960.3(FUS):c.1562G>A (p.Arg521His) SNV Pathogenic 16225 rs121909671 GRCh37: 16:31202740-31202740
GRCh38: 16:31191419-31191419
5 FUS NM_004960.3(FUS):c.1520G>A (p.Gly507Asp) SNV Pathogenic 16226 rs267606831 GRCh37: 16:31202410-31202410
GRCh38: 16:31191089-31191089
6 FUS NM_004960.3(FUS):c.646C>T (p.Arg216Cys) SNV Pathogenic 16227 rs267606832 GRCh37: 16:31196382-31196382
GRCh38: 16:31185061-31185061
7 TARDBP NM_007375.3(TARDBP):c.*83T>C SNV Pathogenic 21465 rs80356744 GRCh37: 1:11082794-11082794
GRCh38: 1:11022737-11022737
8 TARDBP NM_007375.3(TARDBP):c.881G>T (p.Gly294Val) SNV Pathogenic 21484 rs80356721 GRCh37: 1:11082347-11082347
GRCh38: 1:11022290-11022290
9 FUS NM_004960.3(FUS):c.1483C>T (p.Arg495Ter) SNV Pathogenic 29707 rs387906627 GRCh37: 16:31202373-31202373
GRCh38: 16:31191052-31191052
10 FUS NM_004960.3(FUS):c.616G>A (p.Gly206Ser) SNV Pathogenic 29708 rs387906628 GRCh37: 16:31196352-31196352
GRCh38: 16:31185031-31185031
11 VCP NM_007126.5(VCP):c.572G>A (p.Arg191Gln) SNV Pathogenic 8473 rs121909334 GRCh37: 9:35065252-35065252
GRCh38: 9:35065255-35065255
12 VCP NM_007126.5(VCP):c.475C>G (p.Arg159Gly) SNV Pathogenic 30152 rs387906789 GRCh37: 9:35065349-35065349
GRCh38: 9:35065352-35065352
13 VCP NM_007126.5(VCP):c.1774G>A (p.Asp592Asn) SNV Pathogenic 30153 rs387906790 GRCh37: 9:35059720-35059720
GRCh38: 9:35059723-35059723
14 SQSTM1 NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) SNV Pathogenic 8108 rs104893941 GRCh37: 5:179263445-179263445
GRCh38: 5:179836445-179836445
15 SQSTM1 NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) SNV Pathogenic 253029 rs200396166 GRCh37: 5:179248034-179248034
GRCh38: 5:179821034-179821034
16 TARDBP NM_007375.3(TARDBP):c.991C>A (p.Gln331Lys) SNV Pathogenic 5229 rs80356727 GRCh37: 1:11082457-11082457
GRCh38: 1:11022400-11022400
17 TARDBP NM_007375.3(TARDBP):c.881G>C (p.Gly294Ala) SNV Pathogenic 5230 rs80356721 GRCh37: 1:11082347-11082347
GRCh38: 1:11022290-11022290
18 TARDBP NM_007375.3(TARDBP):c.869G>C (p.Gly290Ala) SNV Pathogenic 5231 rs121908395 GRCh37: 1:11082335-11082335
GRCh38: 1:11022278-11022278
19 TARDBP NM_007375.3(TARDBP):c.1028A>G (p.Gln343Arg) SNV Pathogenic 5235 rs80356731 GRCh37: 1:11082494-11082494
GRCh38: 1:11022437-11022437
20 TBK1 NM_013254.4(TBK1):c.2138+2T>C SNV Pathogenic 203437 rs876657406 GRCh37: 12:64891821-64891821
GRCh38: 12:64498041-64498041
21 TBK1 NM_013254.4(TBK1):c.958del (p.Thr320fs) Deletion Pathogenic 203438 rs755950225 GRCh37: 12:64875767-64875767
GRCh38: 12:64481987-64481987
22 TBK1 NM_013254.4(TBK1):c.1340+1G>A SNV Pathogenic 203439 rs767898276 GRCh37: 12:64879798-64879798
GRCh38: 12:64486018-64486018
23 TBK1 NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys) SNV Pathogenic 203440 rs748112833 GRCh37: 12:64891767-64891767
GRCh38: 12:64497987-64497987
24 TBK1 NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu) SNV Pathogenic 203441 rs756751089 GRCh37: 12:64879246-64879246
GRCh38: 12:64485466-64485466
25 TBK1 NM_013254.4(TBK1):c.1345_1348TTAA[1] (p.Ile450fs) Microsatellite Pathogenic 203435 rs876657404 GRCh37: 12:64882269-64882272
GRCh38: 12:64488489-64488492
26 C9orf72 , LOC109504728 NG_031977.1:g.(5321_5338)ins(360_?) Microsatellite Pathogenic 183034 rs143561967 GRCh37: 9:27573527-27573532
GRCh38: 9:27573523-27573524
27 C9orf72 , LOC109504728 NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24] Microsatellite Pathogenic 31151 GRCh37: 9:27573527-27573532
GRCh38: 9:27573529-27573534
28 VCP NM_007126.5(VCP):c.464G>A (p.Arg155His) SNV Pathogenic 8468 rs121909329 GRCh37: 9:35065360-35065360
GRCh38: 9:35065363-35065363
29 VCP NM_007126.5(VCP):c.572G>A (p.Arg191Gln) SNV Pathogenic 8473 rs121909334 GRCh37: 9:35065252-35065252
GRCh38: 9:35065255-35065255
30 VCP NM_007126.5(VCP):c.476G>A (p.Arg159His) SNV Pathogenic 8474 rs121909335 GRCh37: 9:35065348-35065348
GRCh38: 9:35065351-35065351
31 VCP NM_007126.5(VCP):c.463C>T (p.Arg155Cys) SNV Pathogenic 8469 rs121909330 GRCh37: 9:35065361-35065361
GRCh38: 9:35065364-35065364
32 FUS NM_004960.3(FUS):c.1564A>G (p.Arg522Gly) SNV Pathogenic 540279 rs1555509693 GRCh37: 16:31202742-31202742
GRCh38: 16:31191421-31191421
33 VCP NM_007126.5(VCP):c.475C>T (p.Arg159Cys) SNV Pathogenic 280123 rs387906789 GRCh37: 9:35065349-35065349
GRCh38: 9:35065352-35065352
34 TARDBP NM_007375.3(TARDBP):c.1035C>A (p.Asn345Lys) SNV Pathogenic 21467 rs80356732 GRCh37: 1:11082501-11082501
GRCh38: 1:11022444-11022444
35 FUS NM_004960.3(FUS):c.1561C>G (p.Arg521Gly) SNV Pathogenic 16222 rs121909668 GRCh37: 16:31202739-31202739
GRCh38: 16:31191418-31191418
36 TBK1 NM_013254.4(TBK1):c.86dup (p.Lys30fs) Duplication Pathogenic 807704 rs1592350883 GRCh37: 12:64849734-64849735
GRCh38: 12:64455954-64455955
37 TBK1 NM_013254.4(TBK1):c.87G>A (p.Lys29=) SNV Pathogenic 807705 rs1592350887 GRCh37: 12:64849737-64849737
GRCh38: 12:64455957-64455957
38 TBK1 NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) SNV Pathogenic 807706 rs1027249002 GRCh37: 12:64860749-64860749
GRCh38: 12:64466969-64466969
39 TBK1 NM_013254.4(TBK1):c.992+1G>A SNV Pathogenic 807707 rs1341055534 GRCh37: 12:64875802-64875802
GRCh38: 12:64482022-64482022
40 FUS NM_001170634.1(FUS):c.1504_1505AG[3] (p.Gly503fs) Microsatellite Pathogenic 665141 rs1596912983 GRCh37: 16:31202396-31202397
GRCh38: 16:31191075-31191076
41 VCP NM_007126.5(VCP):c.277C>T (p.Arg93Cys) SNV Pathogenic 593071 rs1554669087 GRCh37: 9:35067913-35067913
GRCh38: 9:35067916-35067916
42 TBK1 NM_013254.4(TBK1):c.1922_1924AAG[2] (p.Glu643del) Microsatellite Pathogenic 807508 rs1402092579 GRCh37: 12:64891001-64891003
GRCh38: 12:64497221-64497223
43 FUS NM_004960.3(FUS):c.1394-2del Deletion Pathogenic 447355 rs1555509569 GRCh37: 16:31202282-31202282
GRCh38: 16:31190961-31190961
44 SQSTM1 NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr) SNV Pathogenic 855037 GRCh37: 5:179263481-179263481
GRCh38: 5:179836481-179836481
45 FUS NM_004960.3(FUS):c.1574C>T (p.Pro525Leu) SNV Pathogenic 280110 rs886041390 GRCh37: 16:31202752-31202752
GRCh38: 16:31191431-31191431
46 SQSTM1 NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter) SNV Pathogenic 265782 rs886039782 GRCh37: 5:179250038-179250038
GRCh38: 5:179823038-179823038
47 TBK1 NM_013254.4(TBK1):c.922C>T (p.Arg308Ter) SNV Pathogenic 873222 GRCh37: 12:64875731-64875731
GRCh38: 12:64481951-64481951
48 FUS NM_004960.4(FUS):c.1394-1G>T SNV Pathogenic 873230 GRCh37: 16:31202283-31202283
GRCh38: 16:31190962-31190962
49 FUS NM_004960.4(FUS):c.1555C>T (p.Gln519Ter) SNV Pathogenic 873231 GRCh37: 16:31202733-31202733
GRCh38: 16:31191412-31191412
50 SQSTM1 NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs) Deletion Pathogenic 503881 rs1331685476 GRCh37: 5:179251079-179251082
GRCh38: 5:179824079-179824082

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
Show member pathways
12.71 WDR41 VCP UBQLN2 TBK1 TARDBP SQSTM1
2 12.09 TARDBP SOD1 OPTN MAPT
3 11.49 WDR41 TBK1 SQSTM1 SMCR8 C9orf72
4 11.16 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 cytoplasm GO:0005737 10.24 WDR41 VCP UBQLN2 TBK1 TARDBP SQSTM1
2 endosome GO:0005768 9.88 TMEM106B SQSTM1 OPTN GRN CHMP2B C9orf72
3 lysosome GO:0005764 9.8 TMEM106B SQSTM1 SOD1 GRN CHMP2B C9orf72
4 axon cytoplasm GO:1904115 9.63 SOD1 MAPT KIF5A
5 autophagosome GO:0005776 9.56 UBQLN2 SQSTM1 OPTN C9orf72
6 cytoplasmic stress granule GO:0010494 9.46 VCP TARDBP C9orf72 ATXN2
7 main axon GO:0044304 9.43 MAPT C9orf72
8 guanyl-nucleotide exchange factor complex GO:0032045 9.13 WDR41 SMCR8 C9orf72
9 Atg1/ULK1 kinase complex GO:1990316 8.8 WDR41 SMCR8 C9orf72

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.76 TBK1 TARDBP SMCR8 MAPT
2 macroautophagy GO:0016236 9.61 VCP SQSTM1 CHMP2B
3 positive regulation of superoxide anion generation GO:0032930 9.49 SOD1 MAPT
4 lysosomal transport GO:0007041 9.48 TMEM106B GRN
5 regulation of autophagosome assembly GO:2000785 9.4 UBQLN2 C9orf72
6 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.37 MRNIP FUS
7 stress granule assembly GO:0034063 9.33 MAPT C9orf72 ATXN2
8 positive regulation of xenophagy GO:1904417 9.32 TBK1 OPTN
9 regulation of TORC1 signaling GO:1903432 9.26 SMCR8 C9orf72
10 regulation of autophagy GO:0010506 9.26 WDR41 SMCR8 MAPT C9orf72
11 autophagy GO:0006914 9.23 WDR41 VCP UBQLN2 SQSTM1 SMCR8 OPTN

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 protein binding GO:0005515 10.13 WDR41 VCP UBQLN2 TMEM106B TBK1 TARDBP
2 chaperone binding GO:0051087 9.43 SOD1 MAPT GRN
3 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.32 SQSTM1 OPTN
4 identical protein binding GO:0042802 9.28 VCP UBQLN2 TBK1 TARDBP SQSTM1 SOD1
5 polyubiquitin modification-dependent protein binding GO:0031593 9.13 VCP UBQLN2 OPTN

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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