Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Spinocerebellar_ataxia_type_6> ?p ?o }
Showing triples 1 to 57 of
57
with 100 triples per page.
- Spinocerebellar_ataxia_type_6 abstract "Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, peripheral neuropathy, and ataxia of the gait, stance, and limbs due to cerebellar dysfunction. Unlike other types, SCA 6 is not fatal. This cerebellar function is permanent and progressive, differentiating it from episodic ataxia type 2 (EA2) where said dysfunction is episodic. In some SCA6 families, some members show these classic signs of SCA6 while others show signs more similar to EA2, suggesting that there is some phenotypic overlap between the two disorders. SCA6 is caused by mutations in CACNA1A, a gene encoding a calcium channel α subunit. These mutations tend to be trinucleotide repeats of CAG, leading to the production of mutant proteins containing stretches of 20 or more consecutive glutamine residues; these proteins have an increased tendency to form intracellular agglomerations. Unlike many other polyglutamine expansion disorders expansion length is not a determining factor for the age that symptoms present.".
- Spinocerebellar_ataxia_type_6 wikiPageID "7957316".
- Spinocerebellar_ataxia_type_6 wikiPageLength "10721".
- Spinocerebellar_ataxia_type_6 wikiPageOutDegree "38".
- Spinocerebellar_ataxia_type_6 wikiPageRevisionID "616500340".
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Apoptosis.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Ataxia.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Australia.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Calcium_channel.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Category:Autosomal_dominant_disorders.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Category:Channelopathy.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Category:Neurological_disorders.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Category:Trinucleotide_repeat_disorders.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Cerebellum.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Dominance_(genetics).
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Dysarthria.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Endoplasmic_reticulum.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Episodic_ataxia.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Familial_hemiplegic_migraine.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Germany.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Glutamine.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Huntingtons_disease.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Japan.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Nystagmus.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Peripheral_neuropathy.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Proprioception.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Purkinje_cell.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink RNA_splicing.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Spinocerebellar_ataxia.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLink Trinucleotide_repeat_disorder.
- Spinocerebellar_ataxia_type_6 wikiPageWikiLinkText "Spinocerebellar ataxia type 6".
- Spinocerebellar_ataxia_type_6 diseasesdb "12339".
- Spinocerebellar_ataxia_type_6 emedicinesubj "neuro".
- Spinocerebellar_ataxia_type_6 emedicinetopic "556".
- Spinocerebellar_ataxia_type_6 icd "334.9".
- Spinocerebellar_ataxia_type_6 icd "G11.2".
- Spinocerebellar_ataxia_type_6 name "Spinocerebellar ataxia type 6".
- Spinocerebellar_ataxia_type_6 omim "183086".
- Spinocerebellar_ataxia_type_6 wikiPageUsesTemplate Template:Channelopathy.
- Spinocerebellar_ataxia_type_6 wikiPageUsesTemplate Template:GeneTests.
- Spinocerebellar_ataxia_type_6 wikiPageUsesTemplate Template:Infobox_Disease.
- Spinocerebellar_ataxia_type_6 wikiPageUsesTemplate Template:Reflist.
- Spinocerebellar_ataxia_type_6 subject Category:Autosomal_dominant_disorders.
- Spinocerebellar_ataxia_type_6 subject Category:Channelopathy.
- Spinocerebellar_ataxia_type_6 subject Category:Neurological_disorders.
- Spinocerebellar_ataxia_type_6 subject Category:Trinucleotide_repeat_disorders.
- Spinocerebellar_ataxia_type_6 type Channel.
- Spinocerebellar_ataxia_type_6 type Disorder.
- Spinocerebellar_ataxia_type_6 comment "Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, peripheral neuropathy, and ataxia of the gait, stance, and limbs due to cerebellar dysfunction. Unlike other types, SCA 6 is not fatal. This cerebellar function is permanent and progressive, differentiating it from episodic ataxia type 2 (EA2) where said dysfunction is episodic.".
- Spinocerebellar_ataxia_type_6 label "Spinocerebellar ataxia type 6".
- Spinocerebellar_ataxia_type_6 sameAs Q2868788.
- Spinocerebellar_ataxia_type_6 sameAs Ataxie_cérébelleuse_type_6.
- Spinocerebellar_ataxia_type_6 sameAs 脊髄小脳変性症6型.
- Spinocerebellar_ataxia_type_6 sameAs m.026lf8k.
- Spinocerebellar_ataxia_type_6 sameAs Q2868788.
- Spinocerebellar_ataxia_type_6 wasDerivedFrom Spinocerebellar_ataxia_type_6?oldid=616500340.
- Spinocerebellar_ataxia_type_6 isPrimaryTopicOf Spinocerebellar_ataxia_type_6.