Spinocerebellar Ataxia Type 4
|
0.300 |
GeneticVariation
|
disease |
ORPHANET |
Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic.
|
21267591 |
2011 |
Cardiac Arrest
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
However, mutations of the PLEKHG4 gene and the SPTBN2 gene are not the causes of SCAs in this family.
|
20641168 |
2010 |
SPINOCEREBELLAR ATAXIA 31 (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
The C/T substitution in the 5'-untranslated region of the puratrophin-1 gene (PLEKHG4) or a disease-specific haplotype within the 900-kb SCA31 critical region just upstream of PLEKHG4 has been used for the diagnosis of SCA31.
|
20424877 |
2010 |
Cerebellar Ataxia
|
0.080 |
GeneticVariation
|
phenotype |
BEFREE |
16q-ADCA (OMIM no.117210) is an autosomal dominant spinocerebellar ataxia (AD-SCA) characterized by late-onset pure cerebellar ataxia and -16C>T substitution of the puratrophin-1 gene.
|
19444286 |
2009 |
Spinocerebellar Ataxia Type 4
|
0.300 |
GeneticVariation
|
disease |
ORPHANET |
Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic.
|
18293026 |
2008 |
Cerebellar Ataxia
|
0.080 |
GeneticVariation
|
phenotype |
BEFREE |
A single nucleotide substitution in the puratrophin-1 gene is associated with 16q22.1-linked ADCA showing pure cerebellar ataxia.
|
17661799 |
2007 |
Cerebellar Ataxia
|
0.080 |
GeneticVariation
|
phenotype |
LHGDN |
Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.
|
17611710 |
2007 |
Autosomal dominant cerebellar ataxia
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
A single nucleotide substitution in the puratrophin-1 gene is associated with 16q22.1-linked ADCA showing pure cerebellar ataxia.
|
17661799 |
2007 |
Autosomal dominant cerebellar ataxia
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
We also detected the heterozygous -16C --> T single nucleotide substitution within the puratrophin-1 gene responsible for 16q22.1-linked ADCA in ten families.
|
17805477 |
2007 |
Ataxia, Spinocerebellar
|
0.040 |
GeneticVariation
|
disease |
LHGDN |
Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.
|
17357132 |
2007 |
Progressive cerebellar ataxia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To obtain further insight into the contribution of the C-to-T substitution in the puratrophin-1 gene to the clinical and genetic characteristics of patients with 16q-SCA, we analyzed 686 families with 719 individuals diagnosed with progressive ataxia.
|
17357132 |
2007 |
Ataxia
|
0.120 |
GeneticVariation
|
phenotype |
BEFREE |
We found the C-to-T substitution in the puratrophin-1 gene in 20 patients with ataxia (16 heterozygotes and four homozygotes) and four asymptomatic carriers in 9 of 24 families with an unknown type of ADCA.
|
16780885 |
2006 |
Cerebellar Ataxia
|
0.080 |
GeneticVariation
|
phenotype |
BEFREE |
We found the C-to-T substitution in the puratrophin-1 gene in 20 patients with ataxia (16 heterozygotes and four homozygotes) and four asymptomatic carriers in 9 of 24 families with an unknown type of ADCA.
|
16780885 |
2006 |
Cerebellar Ataxia
|
0.080 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.
|
16491300 |
2006 |
Autosomal dominant cerebellar ataxia
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Recently, a single nucleotide substitution in the 5'-untranslated region (UTR) of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 has been shown to be associated with ADCA in 52 unrelated Japanese families.
|
16491300 |
2006 |
Autosomal dominant cerebellar ataxia
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
In this study we investigated 67 genetically undefined ADCA families from the Nagano prefecture, and found that 63 patients from 51 families possessed the -16C>T change in the puratrophin-1 gene, which was recently found to be pathogenic for 16q22-linked ADCA.
|
16614795 |
2006 |
Ataxias, Hereditary
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We conclude that mutations of the puratrophin-1 gene are not a common cause of hereditary ataxia in our Caucasian population.
|
16491300 |
2006 |
Autosomal dominant cerebellar ataxia
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
Puratrophin-1--normally expressed in a wide range of cells, including epithelial hair cells in the cochlea--was aggregated in Purkinje cells of the chromosome 16q22.1-linked ADCA brains.
|
16001362 |
2005 |
Cerebellar Ataxia
|
0.080 |
GeneticVariation
|
phenotype |
LHGDN |
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.
|
15455264 |
2004 |
Ataxia, Spinocerebellar
|
0.040 |
GeneticVariation
|
disease |
LHGDN |
Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.
|
12796826 |
2003 |
Ataxia
|
0.120 |
GeneticVariation
|
phenotype |
BEFREE |
Laboratory analysis showed that the disorder was not caused by mutations in genes that cause SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8, and SCA-12; not linked to other known loci for autosomal dominant ataxia (SCA-4, SCA-5, SCA-10, SCA-11, SCA-13, SCA-14, and SCA-16); and not linked to known loci for autosomal dominant hereditary spastic paraplegia (HSP) (SPG-3, SPG-4, SPG-6, SPG-8, SPG-9, SPG-10, SPG-12, and SPG-13) or autosomal recessive HSP SPG-7.
|
11839840 |
2002 |
Cerebellar Ataxia
|
0.080 |
GeneticVariation
|
phenotype |
BEFREE |
Laboratory analysis showed that the disorder was not caused by mutations in genes that cause SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8, and SCA-12; not linked to other known loci for autosomal dominant ataxia (SCA-4, SCA-5, SCA-10, SCA-11, SCA-13, SCA-14, and SCA-16); and not linked to known loci for autosomal dominant hereditary spastic paraplegia (HSP) (SPG-3, SPG-4, SPG-6, SPG-8, SPG-9, SPG-10, SPG-12, and SPG-13) or autosomal recessive HSP SPG-7.
|
11839840 |
2002 |
Cerebellar Ataxia
|
0.080 |
GeneticVariation
|
phenotype |
BEFREE |
A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia.
|
10822439 |
2000 |
Autosomal dominant cerebellar ataxia
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
The locus was exactly the candidate interval of SCA4, a rare form of ADCA clinically characterized by ataxia with sensory neuropathy and pyramidal tract signs.
|
10822439 |
2000 |
Ataxia, Spinocerebellar
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA).
|
10712199 |
2000 |