Frontotemporal Dementia With Motor Neuron Disease

An autosomal dominant neurodegenerative disorder caused by hexanucleotide repeat expansion (GGGGCC) in a noncoding region of the C9ORF72 gene. It is characterized by adult onset of frontotemporal dementia or ALS in an affected individual, with significant intrafamilial variation. Patients 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. Psychiatric disturbances may also predate the onset of dementia. OMIM: 105550

Also Known As:

Networked: 18 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Parkinson Disease (Parkinson's Disease)
2.	Alzheimer Disease (Alzheimer's Disease)
3.	Neurodegenerative Diseases (Neurodegenerative Disease)
4.	Huntington Disease (Huntington's Disease)
5.	Prodromal Symptoms

Experts

1.	Rademakers, Rosa: 2 articles (11/2019 - 03/2012)
2.	Fair, Summer R: 1 article (01/2022)
3.	Fu, Hongjun: 1 article (01/2022)
4.	Hester, Mark E: 1 article (01/2022)
5.	Lapins, Allison: 1 article (01/2022)
6.	Mastrianni, James A: 1 article (01/2022)
7.	McElroy, Craig A: 1 article (01/2022)
8.	Pytel, Peter: 1 article (01/2022)
9.	Seibert, Kaitlin: 1 article (01/2022)
10.	Smith, Heather: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Frontotemporal Dementia With Motor Neuron Disease:

1.	Prion ProteinsIBA 09/01/2013 - "In this review, the authors describe key findings from neuroimaging studies (magnetic resonance imaging and radionucleotide imaging) in neurodegenerative disorders, including Alzheimer's disease (AD) and prodromal stages, familial and atypical AD syndromes, frontotemporal dementia, amyotrophic lateral sclerosis with and without dementia, Parkinson's disease with and without dementia, dementia with Lewy bodies, Huntington's disease, multiple sclerosis, HIV-associated neurocognitive disorder, and prion protein associated diseases (i.e., Creutzfeldt-Jakob disease). "
2.	Proteins (Proteins, Gene)FDA Link 11/29/2019 - "Causative and risk-associated mutations in Alzheimer's disease, Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Parkinson's disease, Huntington's disease and others have given the field a unique mechanistic insight into protein clearance processes in neurons. " 01/01/2020 - "The ubiquitin-binding proteasomal shuttle protein UBQLN2 is implicated in common neurodegenerative disorders due to its accumulation in disease-specific aggregates and, when mutated, directly causes familial frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). "
3.	Phosphotransferases (Kinase)IBA 01/01/2022 - "Several variants of the TANK-Binding Kinase 1 (TBK1) gene have been associated with frontotemporal dementia - amyotrophic lateral sclerosis (FTD-ALS) spectrum diseases. " 11/01/2019 - "Mutations in the TANK binding kinase 1 gene (TBK1) are associated with amyotrophic lateral sclerosis and/or frontotemporal dementia; however, the range of clinical phenotypes and neuropathological changes associated with these mutations have not yet been completely elucidated. "
4.	InflammasomesIBA 07/01/2023 - "Inflammasome-Mediated Neuronal-Microglial Crosstalk: a Therapeutic Substrate for the Familial C9orf72 Variant of Frontotemporal Dementia/Amyotrophic Lateral Sclerosis."
5.	alpha-SynucleinIBA 03/01/2004 - "17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions."
6.	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA 01/01/2020 - "Detection of reduced dopamine transporter availability by 123 I-N-omega-fluoropropyl-2-beta-carbomethoxy-3-beta (4-iodophenyl) nortropane single-photon emission computed tomography in a patient of frontotemporal dementia with motor neuron disease."
7.	MicroRNAs (MicroRNA)IBA 03/01/2014 - "The emerging roles of microRNAs in the pathogenesis of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) spectrum disorders."
8.	UbiquitinIBA 01/01/2020 - "The ubiquitin-binding proteasomal shuttle protein UBQLN2 is implicated in common neurodegenerative disorders due to its accumulation in disease-specific aggregates and, when mutated, directly causes familial frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). "
9.	5' Untranslated Regions (5' UTR)IBA 10/01/2021 - "Since then, the number of reported cases with NOTCH2NLC GGC repeat expansion in Asian and European populations has increased rapidly, indicating that the expanded mutation not only leads to the onset or progression of the NIID, but also may play an important role in multiple progressive neurological disorders, including Parkinson's disease, essential tremor, multiple system atrophy, Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, leukoencephalopathy, and oculopharyngodistal myopathy type 3. Nevertheless, the underlying pathogenic mechanism of the NOTCH2NLC 5' UTR region GGC repeat expansion in these disorders remains largely unknown. "
10.	IronIBA 07/01/2009 - "Frontotemporal dementia-amyotrophic lateral sclerosis complex is simulated by neurodegeneration with brain iron accumulation."

Therapies and Procedures

1.	Therapeutics 01/01/2020 - "No effective therapeutics to treat neurodegenerative diseases exist, despite significant attempts to find drugs that can reduce or rescue the debilitating symptoms of tauopathies such as Alzheimer's disease, Parkinson's disease, frontotemporal dementia, amyotrophic lateral sclerosis, or Pick's disease. "