Frontotemporal dementia with motor neuron disease
Synonyms: FTD-ALS · FTD-MND · Frontotemporal dementia with amyotrophic lateral sclerosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
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). The disease is progressive, with death occurring 2-5 years after onset.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Frontotemporal dementia with motor neuron disease | FTD-ALS · FTD-MND · Frontotemporal dementia with amyotrophic lateral sclerosis |
| fr | Démence fronto-temporale avec maladie du motoneurone | DFT-SLA · Démence fronto-temporale avec sclérose latérale amyotrophique |
| de | Frontotemporale Demenz mit Motoneuron-Krankheit | FTD-ALS · FTD-MND · Frontotemporale Demenz mit ALS |
| es | Demencia frontotemporal con enfermedad de la motoneurona | Demencia frontotemporal con esclerosis lateral amiotrófica · FTD-ALS · FTD-MND |
| it | Demenza frontotemporale con malattia dei motoneuroni | Demenza frontotemporale con sclerosi laterale amiotrofica · FTD-ALS · FTD-MND |
| nl | Frontotemporale dementie met motorneuronziekte | FTD-ALS · FTD-MND · Frontotemporale dementie met amyotrofe laterale sclerose · Frontotemporale dementie met amyotrofische laterale sclerose |
| pt | Demência frontotemporal com doença do neurónio motor | |
| pl | Otępienie czołowo-skroniowe z chorobą neuronu ruchowego | FTD-ALS · FTD-MND · Otępienie czołowo-skroniowe ze stwardnieniem zanikowym bocznym |
| cs | Frontotemporální demence s onemocněním motorických neuronů | FTD-ALS · FTD-MND · Frontotemporální demence s amyotrofickou laterální sklerózou |
| uk | Лобно-скронева деменція з ураженням рухових нейронів | Лобно-скронева деменція при бічному аміотрофічному склерозі · FTD-ALS · FTD-MND |
| zh | 额颞叶痴呆伴运动神经元病 | 额颞叶痴呆伴肌萎缩侧索硬化症 |
| tr | Motor nöron hastalığı ile seyreden frontotemporal demans | FTD-ALS · FTD-MND · Amiyotrofik lateral skleroz ile seyreden frontotemporal demans |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105550 | BTNT | validated | |
| OMIM | 608030 | BTNT | validated | |
| OMIM | 612069 | BTNT | validated | |
| OMIM | 613954 | BTNT | validated | |
| OMIM | 615911 | BTNT | validated | |
| OMIM | 616437 | BTNT | validated | |
| OMIM | 616439 | BTNT | validated | |
| OMIM | 619133 | BTNT | not yet validated | |
| OMIM | 619141 | BTNT | not yet validated | |
| ICD-10 | G31.0 | BTNT | inclusion | validated |
| ICD-11 | 6D83 | NTBT | index | validated |
| MONDO | 0017161 | E | validated | |
| MeSH | C566288 | E | validated | |
| UMLS | C3888102 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98535Frontotemporal degeneration with dementia
rare neurological diseases - ORPHA:306708Frontotemporal neurodegeneration with movement disorder
rare genetic diseases; rare neurological diseases - ORPHA:276061Genetic frontotemporal degeneration with dementia
rare genetic diseases
No children.
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBK1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11584 | ENSG00000183735 | 604834 | 12q14.2 | TANK binding kinase 1 | 25803835[PMID] |
| C9ORF72 | Disease-causing germline mutation(s) in | Assessed | HGNC:28337 | ENSG00000147894 | 614260 | 9p21.2 | C9orf72-SMCR8 complex subunit | 23597030[PMID] |
| CHCHD10 | Disease-causing germline mutation(s) in | Assessed | HGNC:15559 | ENSG00000250479 | 615903 | 22q11.23 | coiled-coil-helix-coiled-coil-helix domain containing 10 | 24934289[PMID] |
| SQSTM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11280 | ENSG00000161011 | 601530 | 5q35.3 | sequestosome 1 | 24042580[PMID] |
| TARDBP | Disease-causing germline mutation(s) in | Assessed | HGNC:11571 | ENSG00000120948 | 605078 | 1p36.22 | TAR DNA binding protein | |
| VCP | Disease-causing germline mutation(s) in | Assessed | HGNC:12666 | ENSG00000165280 | 601023 | 9p13.3 | valosin containing protein | 21145000[PMID] |
| FUS | Major susceptibility factor in | Not yet assessed | HGNC:4010 | ENSG00000089280 | 137070 | 16p11.2 | FUS RNA binding protein | 23597030[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
35 annotations · validated 2018-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002366 | Abnormal lower motor neuron morphology | |
| HP:0002127 | Abnormal upper motor neuron morphology | |
| HP:0002145 | Frontotemporal dementia | |
| Frequent (79-30%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0000741 | Apathy | |
| HP:0002186 | Apraxia | |
| HP:0000708 | Atypical behavior | |
| HP:0002314 | Degeneration of the lateral corticospinal tracts | |
| HP:0000716 | Depression | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001260 | Dysarthria | |
| HP:0002442 | Dyscalculia | |
| HP:0002015 | Dysphagia | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0002171 | Gliosis | |
| HP:0000738 | Hallucinations | |
| HP:0007190 | Neuronal loss in the cerebral cortex | |
| HP:0002385 | Paraparesis | |
| HP:0001300 | Parkinsonism | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0002273 | Tetraparesis | |
| HP:0010549 | Weakness due to upper motor neuron dysfunction | |
| Occasional (29-5%) | ||
| HP:0008322 | Abnormal mitochondrial morphology | |
| HP:0003487 | Babinski sign | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0001283 | Bulbar palsy | |
| HP:0000734 | Disinhibition | |
| HP:0002380 | Fasciculations | |
| HP:0002283 | Global brain atrophy | |
| HP:0001265 | Hyporeflexia | |
| HP:0002300 | Mutism | |
| HP:0030223 | Perseveration | |
| HP:0000605 | Supranuclear gaze palsy | |
| Very rare (<4-1%) | ||
| HP:0000508 | Ptosis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 17036243[PMID]_25803835[PMID]_23303844[PMID]_24934289[PMID]_16495328[PMID]_19251628[PMID]_21145000[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/275872
- This record as JSON: /data/d/275872.json