FUS-ALS presenting with myoclonic jerks in a 17-year-old man.
Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):278-280. doi: 10.1080/21678421.2019.1582665. Epub 2019 Mar 18.
PMID: 30879340
DNA sequencing demonstrated that he was heterozygous for
the c.1483C>T pathogenic nonsense mutation in exon 14 of the FUS
gene, consistent with ALS6. This is the first reported case of FUS-ALS presenting with prominent myoclonus....
ALS molecular subtypes are a combination of cellular and pathological features learned by deep multiomics classifiers.
Cell Rep. 2025 Mar 25;44(3):115402. doi: 10.1016/j.celrep.2025.115402. Epub 2025 Mar 10.
PMID: 40067829
Free article.
Amyotrophic lateral sclerosis (ALS) is a complex syndrome with multiple
genetic causes and wide variation in disease presentation. Despite this
heterogeneity, large-scale genomics studies revealed that ALS postmortem
samples can be grouped into a small number of subtypes, defined by
transcriptomic signatures of mitochondrial dysfunction and oxidative
stress (ALS-Ox), microglial activation and neuroinflammation (ALS-Glia),
or TDP-43 pathology and associated transposable elements (ALS-TE). In
this study, we present a deep ALS neural net classifier (DANCer) for ALS
molecular subtypes. Applying DANCer to an expanded cohort from the NYGC
ALS Consortium highlights two subtypes that strongly correlate with
disease duration: ALS-TE in cortex and ALS-Glia in spinal cord. Finally,
single-nucleus transcriptomes demonstrate that ALS subtypes are
recapitulated in neurons and glia, with both ALS-wide and
subtype-specific alterations in all cell types. In summary, ALS
molecular subtypes represent a combination of cellular and pathological
features that correlate with clinical features of ALS.
Motor activity in gamma and high gamma bands recorded
with a Stentrode from the human motor cortex in two people with ALS.
J Neural Eng. 2025 Mar 31;22(2):026036. doi: 10.1088/1741-2552/adbd78.
PMID: 40048825
Free PMC article.
For Participant 1, the average DoM was strongest during
attempted movements of both ankles, while for Participant 2, the DoM was
greatest for attempted movement of the right hand. The overall classification accuracy was 91.43% for Participant 1 and 70.37% for Participant 2 …
Juvenile onset ALS is a very rare form of motor neuron disease, with the
first symptoms of motor neuron degeneration manifested before 25 years
of age. Mutations in the alsin (ALS2), senataxin (SETX), and spatacsin (SPG11)
genes have been associated with familial ALS with juvenile onset and
slow progression, whereas the genetic architecture of sporadic juvenile
ALS remains unclear. We screened mutations in C9orf72, SOD1, FUS, TARDBP, ANG, VCP and PFN1
in 16 juvenile sporadic ALS patients. Four cases (25%) carrying FUS
mutations and one individual (6%) harbouring a SOD1 mutation were
identified. All cases had an aggressive disease course. Our results
suggest that FUS mutations are the most frequent genetic cause in
early-onset sporadic ALS patients of Chinese origin. Genetic testing of
FUS should be performed in early-onset ALS patients especially those
with an aggressive disease course.
Alsin (ALS2) Alsin Rho Guanine Nucleotide Exchange Factor ALS2 (Juvenile)
Senataxin (ALS4/SETX)
Spatacsin (ALS5/SPG11)
ALS3, Amyotrophic Lateral Sclerosis 3 Autosomal Dominant
SOD1 (ALS1, Adult), https://www.genecards.org/cgi-bin/carddisp.pl?gene=SOD1&keywords=ALS1
FUS (ALS6) , FUS RNA Binding Protein
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FUS&keywords=ALS6
ALS7 (Amyotrophic Lateral Sclerosis 7) is a Genetic Locus.
Diseases associated with ALS7 include Amyotrophic Lateral Sclerosis 7 and Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7.Aliases:
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Amyotrophic Lateral Sclerosis Frontotemporal Dementia ALS Ftd3 Frontotemporal Lobar Degeneration Frontotemporal Dementia, Chromosome 3-Linked Amyotrophic Lateral Sclerosis, Chmp2b-Related Pallidopontonigral Degeneration Lou Gehrig Disease FTDALS7 Chromosome 3-Linked Frontotemporal Dementia Charcot Disease FTD Als17 Amyotrophic Lateral Sclerosis 17 Chmp2b-Related Frontotemporal Dementia Lou Gehrig'S Disease Motor Neuron Disease, Bulbar Multiple System Tauopathy With Presenile Dementia Wilhemsen-Lynch Disease Amyotrophic Lateral Sclerosis, Susceptibility To Amyotrophic Lateral Sclerosis 17, Formerly Als17, Formerly Amyotrophic Lateral Sclerosis Type 17 Chmp2b-Related Amyotrophic Lateral Sclerosis Caused By Mutation In Chmp2b Chmp2b Amyotrophic Lateral Sclerosis Chmp2b-Related Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Dtm1 Ftd-3 Ftd-Chmp2b Chmp2b-Related Disorder Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 17 Dementia, Frontotemporal, Chromosome 3-Linked Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Frontotemporal Lobe Dementia Dementia In Fronto-Temporal Lobar Degeneration Temple Dementia Frontal Lobe Dementia Amyotrophic Sclerosis Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis Amyotrophic Lateral Sclerosis-Plus See less « |
VAPB (ALS8) https://www.genecards.org/cgi-bin/carddisp.pl?gene=VAPB&keywords=ALS8 .
Angiogenin, ANG (ALS9) https://www.genecards.org/Search/Keyword?queryString=ANG
TARDBP, (ALS10) https://www.genecards.org/cgi-bin/carddisp.pl?gene=TARDBP&keywords=TARDBP
FIG4, (ALS11) Phosphoinositide 5-Phosphatase
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FIG4&keywords=ALS11
OPTN, Optineurin, (ALS12) https://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN&keywords=ALS12 OPTN (Optineurin) is a Protein Coding gene.
Diseases associated with OPTN include Glaucoma, Primary Open Angle and Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia.
Among its related pathways are Toll Like Receptor 7/8 (TLR7/8) Cascade and TNF signaling.
Gene Ontology (GO) annotations related to this gene include identical protein binding and small GTPase binding.
ATXN2, Ataxin2, (ALS13-related gene)
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ATXN2&keywords=ALS13
VCP (ALS14), (Valosin Containing Protein) https://www.genecards.org/cgi-bin/carddisp.pl?gene=VCP&keywords=ALS14
Diseases associated with VCP include Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 and Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1.
Among its related pathways are Autodegradation of the E3 ubiquitin ligase COP1 and Early SARS-CoV-2 Infection Events.
Gene Ontology (GO) annotations related to this gene include RNA binding and signaling receptor binding.
Ubiquilin2, UBQKN2, (ALS15 ), NEDD4 Binding Protein 4
SIGMAR1 (ALS16), https://www.genecards.org/cgi-bin/carddisp.pl?gene=SIGMAR1&keywords=ALS16 SIGMAR1 (Sigma Non-Opioid Intracellular Receptor 1) is a Protein Coding gene.
Diseases associated with SIGMAR1 include Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 and Amyotrophic Lateral Sclerosis 16, Juvenile.
Among its related pathways are Infectious disease and SARS-CoV-2 Infection.
Gene Ontology (GO) annotations related to this gene include signaling receptor activity and G protein-coupled opioid receptor activity.
CHMP2B ( ALS17), https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHMP2B&keywords=ALS17
Profilin1, PFN1, (ALS18 ) https://www.genecards.org/cgi-bin/carddisp.pl?gene=PFN1&keywords=PFN1
Tocris Summary for ERBB4 Gene
The epidermal growth factor receptor (EGFR) is a
receptor tyrosine kinase of the ErbB family. Four members of the ErbB
family have been identified; EGFR (ErbB1, HER1), ErbB2 (HER2), ErbB3
(HER3) and ErbB4 (HER4). EGFR signaling drives many cellular responses. HNRNPA1 (ALS20) Heterogeneous Nuclear Ribonucleoprotein A1
Matrin3, MATR3 ,(ALS21), https://www.genecards.org/cgi-bin/carddisp.pl?gene=MATR3&keywords=ALS21 Vocal Cord And Pharyngeal Weakness With Distal Myopathy ,(VCPDM).
Annexin11, ANXA11, (ALS23), https://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11&keywords=ALS23
This gene encodes a member of the annexin
family, a group of calcium-dependent phospholipid-binding proteins.
Annexins have unique N-terminal domains and conserved C-terminal
domains, which contain calcium-dependent phospholipid-binding sites. The
encoded protein is a 56-kD antigen recognized by sera from patients
with various autoimmune diseases. Several transcript variants encoding
two different isoforms have been identified. [provided by RefSeq, Dec
2015]
ANXA11 (Annexin A11) is a Protein Coding gene.
Diseases associated with ANXA11 include Amyotrophic Lateral Sclerosis 23 and Inclusion Body Myopathy And Brain White Matter Abnormalities.
Gene Ontology (GO) annotations related to this gene include RNA binding and calcium-dependent protein binding.
An important paralog of this gene is ANXA7.
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