FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: FTDALS
ALSFTD
AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA
FRONTOTEMPORAL DEMENTIA AND/OR MOTOR NEURON DISEASE
FTDMND
Number of Symptoms 26
OrphanetNr:
OMIM Id: 105550
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000605) Supranuclear gaze palsy 16 / 7739
2
(HPO:0000738) Hallucinations 60 / 7739
3
(HPO:0002186) Apraxia 22 / 7739
4
(HPO:0000746) Delusions 21 / 7739
5
(HPO:0002145) Frontotemporal dementia 14 / 7739
6
(HPO:0002442) Dyscalculia 5 / 7739
7
(HPO:0002385) Paraparesis 12 / 7739
8
(HPO:0001260) Dysarthria 329 / 7739
9
(HPO:0000741) Apathy 42 / 7739
10
(HPO:0001300) Parkinsonism 75 / 7739
11
(HPO:0002273) Tetraparesis 15 / 7739
12
(HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
13
(HPO:0000716) Depression 99 / 7739
14
(HPO:0001324) Muscle weakness 859 / 7739
15
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
16
(OMIM) Myelin loss in the corticospinal tracts 1 / 7739
17
(OMIM) Motor neuron disease 2 / 7739
18
(OMIM) Neuropathology shows neuronal degeneration 1 / 7739
19
(OMIM) Poor judgement 1 / 7739
20
(HPO:0002529) Neuronal loss in central nervous system 37 / 7739
21
(OMIM) TDP43-positive neuronal and glial cytoplasmic inclusions 1 / 7739
22
(HPO:0002171) Gliosis 48 / 7739
23
(MedDRA:10070246) Executive dysfunction 6 / 7739
24
(OMIM) Superficial laminar spongiosis 1 / 7739
25
(OMIM) Amytrophic lateral sclerosis 1 / 7739
26
(OMIM) Brain atrophy, particularly of the frontal and temporal lobes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Pinsky et al. (1975) described amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) as an entity distinct from pure ALS because dementia is absent in the latter condition. They found considerable intrafamilial variability. Lesions in the cerebral cortex ...
Molecular genetics OMIM In affected members of large families with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis (FTD/ALS) mapping to chromosome 9p21, DeJesus-Hernandez et al. (2011) and Renton et al. (2011) simultaneously and independently identified a heterozygous expanded hexanucleotide repeat ...
Population genetics OMIM In a genomewide association analysis of 442 Finnish ALS patients and 521 controls, Laaksovirta et al. (2010) identified a disease association with SNP dbSNP rs3849942 on chromosome 9p21 (p = 9.11 x 10(-11)). A 42-SNP haplotype was associated ...