AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
|
27601211 |
2016 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A combination of linkage analysis with homozygosity mapping and targeted sequencing identified two novel ALS2 mutations, a c.194T > C (p.Phe65Ser) missense substitution located in the first RCC-like domain of ALS2/alsin and a c.2998delA (p.Ile1000*) nonsense mutation.
|
26751646 |
2016 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis (JPLS) and infantile-onset ascending hereditary spastic paraplegia (IAHSP).
|
24315819 |
2014 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
|
23881933 |
2013 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Conversely, consistent with our previous study using B6 lines, lack of Als2, a murine homolog for the recessive juvenile ALS causative gene, in FVB congenic SOD1(H46R), but not SOD1(G93A), mice resulted in an earlier death, implying a genetic background-independent but mutation-dependent phenotypic modification.
|
22438926 |
2012 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
Biomarker
|
disease |
BEFREE |
Intriguingly, ALS2 was colocalized with LC3 and p62, and partly with SOD1 on autophagosome/endosome hybrid compartments, and loss of ALS2 significantly lowered the lysosome-dependent clearance of LC3 and p62 in cultured cells.
|
20339559 |
2010 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan.
|
20018642 |
2009 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our data suggest that ALS2 is predominantly a distal axonopathy, rather than a neuronopathy in the central nervous system of the mouse model, implying that alsin plays an important role in maintaining the integrity of the corticospinal axons.
|
17855450 |
2007 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
Biomarker
|
disease |
BEFREE |
Four ALS2-deficient mouse models have been generated by different groups and used to study the behavioral and pathological impact of alsin deficiency.
|
17955197 |
2007 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present a 32-year-old Turkish male with juvenile amyotrophic lateral sclerosis 2 and a previously unrecognized homozygous deletion in exon 4 of the ALS2 gene (553delA).
|
16240357 |
2005 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that deletion mutations in ALS2 gene detected in ALS2 patients seem to be uncommon in Japanese AR-ALS, and that SNPs in uncoding regions might possibly be relevant to predisposition to ALS.
|
12866199 |
2003 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
|
11586298 |
2001 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
|
11586297 |
2001 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Amyotrophic lateral sclerosis 2 (ALS2) is an autosomal recessive form of juvenile ALS and has been mapped to human chromosome 2q33.
|
11586298 |
2001 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The establishment of a YAC contig and transcript map that spans the region containing the ALS2 mutation is an essential step in the identification of the ALS2 gene.
|
9889004 |
1999 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|