Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our study delineates the phenotypic spectrum of IAHSP and ALS2-related disorders and provides valuable insights into the natural disease course.
|
30128655 |
2018 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
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 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.
|
24704789 |
2015 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2.
|
24144828 |
2014 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
|
24315819 |
2014 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
|
23881933 |
2013 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the ALSIN gene cause JALS type 2 (ALS2) as well as juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis.
|
22248478 |
2012 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).
|
18810511 |
2009 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.
|
18523452 |
2008 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
Biomarker
|
disease |
BEFREE |
ALS2 is a causative gene for a juvenile autosomal recessive form of motor neuron diseases (MNDs), including amyotrophic lateral sclerosis 2 (ALS2), juvenile primary lateral sclerosis, and infantile-onset ascending hereditary spastic paralysis.
|
17566607 |
2007 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Alsin are associated with chronic juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis.
|
17855450 |
2007 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a novel ALS2 missense mutation in patients affected by IAHSP.
|
16718699 |
2006 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
Biomarker
|
disease |
BEFREE |
The causative gene for JPLS was found to be ALS2, which is also responsible for a recessive form of amyotrophic lateral sclerosis, for infantile onset ascending hereditary spastic paralysis (IAHSP) and for a form of complicated hereditary spastic paraplegia (cHSP).
|
16670179 |
2006 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings.
|
12919135 |
2003 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The syndrome of IAHSP is genetically heterogeneous, and no clinical sign can help to distinguish patients with and without Alsin mutations.
|
12601111 |
2003 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genotyping and linkage analyses demonstrated that this infantile-onset ascending hereditary spastic paralysis (IAHSP) is allelic to the condition previously reported as juvenile amyotrophic lateral sclerosis at the ALS2 locus on chromosome 2q33-35 (LOD score 6.66 at recombination fraction 0).
|
12145748 |
2002 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genotyping and linkage analyses demonstrated that this infantile-onset ascending hereditary spastic paralysis (IAHSP) is allelic to the condition previously reported as juvenile amyotrophic lateral sclerosis at the ALS2 locus on chromosome 2q33-35 (LOD score 6.66 at recombination fraction 0).
|
12145748 |
2002 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genotyping and linkage analyses demonstrated that this infantile-onset ascending hereditary spastic paralysis (IAHSP) is allelic to the condition previously reported as juvenile amyotrophic lateral sclerosis at the ALS2 locus on chromosome 2q33-35 (LOD score 6.66 at recombination fraction 0).
|
12145748 |
2002 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
|
11586298 |
2001 |
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Hereditary spastic paralysis, infantile onset ascending
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Primary lateral sclerosis juvenile
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations of the alsin Rho guanine nucleotide exchange factor (ALS2) gene cause a group of overlapping autosomal recessive neurodegenerative disorders including infantile-onset ascending hereditary spastic paralysis (IAHSP), juvenile primary lateral sclerosis (JPLS), and juvenile amyotrophic lateral sclerosis (JALS/ALS2), caused by retrograde degeneration of the upper motor neurons of the pyramidal tracts.
|
30128655 |
2018 |
Primary lateral sclerosis juvenile
|
0.760 |
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 |
Primary lateral sclerosis juvenile
|
0.760 |
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 |
Primary lateral sclerosis juvenile
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
|
23881933 |
2013 |