Frontotemporal dementia with motor neuron disease

Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.



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Narrow down the case reports



Total: 10 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 30906360
 Frontotemporal Dementia with Motor Neuron Disease in a Patient with Antiphospholipid Syndrome: A Case Report.
Jeong YC, Park JS, Kim SH, Choi H.
Dement Neurocogn Disord. 2016;15(4):165-169.
Muscle weakness
1
(17.5%)		 23944734
 Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.
Vengoechea J, David MP, Yaghi SR, Carpenter L, Rudnicki SA.
Amyotroph Lateral Scler Frontotemporal Degener. 2013;14(7-8):615-9.
Dysarthria Bulbar palsy
UBQLN2
p|SUB|P|506|S
Adaptor Proteins, Signal Transducing Adult Amyotrophic Lateral Sclerosis Autophagy-Related Proteins Cell Cycle Proteins Females Homo sapiens Male Middle Aged Mutation Penetrance Ubiquitins Young Adult
3
(4.0%)		 28562075
 C9orf72 mutations do not influence the tau signature of amyotrophic lateral sclerosis with cognitive impairment (ALSci).
Volkening K, Strong WL, Seaton S, Yang W, Strong MJ.
Amyotroph Lateral Scler Frontotemporal Degener. 2017;18(7-8):549-554.
Cognitive impairment
C9orf72
Alzheimer's Disease Amyotrophic Lateral Sclerosis Cognition Disorders Females Genetic Association Studies Genetic Predisposition to Disease Homo sapiens Male Middle Aged Mutation RNA-Binding Proteins Single Nucleotide Polymorphism tau Proteins
3
(4.0%)		 26735706
 Photosensitivity in a patient with C9orf72 repeat expansion.
Janssen P, Houben M, Hoff E.
Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):266-9.
Dementia
C9orf72
Adult Brain Waves C9orf72 Protein DNA Repeat Expansion Electroencephalography Homo sapiens Male Photosensitivity Disorders Proteins Schizophrenia
3
(4.0%)		 25408367
 Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.
Floris G, Borghero G, Cannas A, Di Stefano F, Murru MR, Corongiu D, Cuccu S, Tranquilli S, Cherchi MV, Serra A, Loi G, Marrosu MG, Chio A, Marrosu F.
J Neurol. 2015;262(2):375-84.
Dementia
p|SUB|A|382|T;RS#:367543041
Adult Amyotrophic Lateral Sclerosis DNA-Binding Proteins Females Homo sapiens Male Middle Aged Mutation Phenotype
3
(4.0%)		 23548882
(5215094)
 Delusion of pregnancy: a case revisited.
Larner AJ.
Behav Neurol. 2013;27(3):293-4.
Psychosis
C9orf72
Adult Amyotrophic Lateral Sclerosis C9orf72 Protein DNA Repeat Expansion Delusions Females Genetic Predisposition to Disease Homo sapiens Pregnancy Proteins
3
(4.0%)		 22125525
(3224521)
 Amnesia in frontotemporal dementia with amyotrophic lateral sclerosis, masquerading Alzheimer's disease.
Yamanami-Irioka A, Uchihara T, Endo T, Irioka T, Watanabe M, Kitagawa M, Mizusawa H.
Case Rep Neurol. 2011;3(3):242-7.
Dementia
TARDBP
3
(4.0%)		 22051030
(3248959)
 Right temporal variant frontotemporal dementia with motor neuron disease.
Coon EA, Whitwell JL, Parisi JE, Dickson DW, Josephs KA.
J Clin Neurosci. 2012;19(1):85-91.
Neurofibrillary tangles
TARDBP
Dominance, Cerebral Females Functional Laterality Homo sapiens Middle Aged Motor Neuron Disease Retrospective Studies TDP-43 Proteinopathies Temporal Lobe
3
(4.0%)		 20139654
 [Frontotemporal dementia with motor neuron disease diagnosed after the development of type II respiratory failure].
Satomura H, Kobayashi Y, Kozaki K, Hattanmaru M, Tanaka M, Sato M, Moriya Y, Inoue S, Hasegawa H, Toba K.
Nihon Ronen Igakkai Zasshi. 2009;46(6):557-61.
Dementia
Females Homo sapiens Motor Neuron Disease Respiratory Insufficiency
3
(4.0%)		 17080724
 An autopsy case of frontotemporal dementia with severe dysarthria and motor neuron disease showing numerous basophilic inclusions.
Ishihara K, Araki S, Ihori N, Shiota J, Kawamura M, Nakano I.
Neuropathology. 2006;26(5):447-54.
Dysarthria
Autopsy Brain Dementia Dysarthria Epilepsy, Frontal Lobe Females Homo sapiens Inclusion Bodies Magnetic Resonance Imaging Middle Aged Motor Neuron Disease Motor Neurons Spinal Cord Thyroiditis
        

Phenotype(s) retrieved from Orphanet

    Total: 35

HPO ID Term Frequency
HP:0002127 Abnormal upper motor neuron morphology Very frequent (99-80%)
HP:0002145 Frontotemporal dementia Very frequent (99-80%)
HP:0002366 Abnormal lower motor neuron morphology Very frequent (99-80%)
HP:0000708 Behavioral abnormality Frequent (79-30%)
HP:0000716 Depressivity Frequent (79-30%)
HP:0000738 Hallucinations Frequent (79-30%)
HP:0000741 Apathy Frequent (79-30%)
HP:0001260 Dysarthria Frequent (79-30%)
HP:0001300 Parkinsonism Frequent (79-30%)
HP:0002015 Dysphagia Frequent (79-30%)
HP:0002071 Abnormality of extrapyramidal motor function Frequent (79-30%)
HP:0002073 Progressive cerebellar ataxia Frequent (79-30%)
HP:0002171 Gliosis Frequent (79-30%)
HP:0002186 Apraxia Frequent (79-30%)
HP:0002273 Tetraparesis Frequent (79-30%)
HP:0002314 Degeneration of the lateral corticospinal tracts Frequent (79-30%)
HP:0002385 Paraparesis Frequent (79-30%)
HP:0002442 Dyscalculia Frequent (79-30%)
HP:0002460 Distal muscle weakness Frequent (79-30%)
HP:0003700 Generalized amyotrophy Frequent (79-30%)
HP:0003701 Proximal muscle weakness Frequent (79-30%)
HP:0007190 Neuronal loss in the cerebral cortex Frequent (79-30%)
HP:0010549 Weakness due to upper motor neuron dysfunction Frequent (79-30%)
HP:0000605 Supranuclear gaze palsy Occasional (29-5%)
HP:0000734 Disinhibition Occasional (29-5%)
HP:0001265 Hyporeflexia Occasional (29-5%)
HP:0001283 Bulbar palsy Occasional (29-5%)
HP:0002283 Global brain atrophy Occasional (29-5%)
HP:0002300 Mutism Occasional (29-5%)
HP:0002380 Fasciculations Occasional (29-5%)
HP:0003487 Babinski sign Occasional (29-5%)
HP:0008322 Abnormal mitochondrial morphology Occasional (29-5%)
HP:0008619 Bilateral sensorineural hearing impairment Occasional (29-5%)
HP:0030223 Perseveration Occasional (29-5%)
HP:0000508 Ptosis Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0000746 Delusions 1
HP:0002878 Respiratory failure 1
HP:0100543 Cognitive impairment 1


Causative gene(s) retrieved from Orphanet

    Total: 7

Gene Symbol Gene Name Entrez Gene ID
VCP valosin containing protein 7415
TARDBP TAR DNA binding protein 23435
FUS FUS RNA binding protein 2521
SQSTM1 sequestosome 1 8878
C9ORF72 C9orf72-SMCR8 complex subunit 203228
TBK1 TANK binding kinase 1 29110
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 400916