FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2009023402> ?p ?o ?g. }

• W2009023402 endingPage "416" @default.
• W2009023402 startingPage "411" @default.
• W2009023402 abstract "<b><i>Objective:</i></b> To describe a kindred with a dominantly inherited neurologic disorder manifested either as uncomplicated spastic paraplegia or ataxia, spastic paraplegia, and mental retardation. <b><i>Methods:</i></b> Neurologic examinations and molecular genetic analysis (exclusion of known <i>SCA</i> and HSP genes and loci; and trinucleotide repeat expansion detection [RED]) were performed in six affected and four unaffected subjects in this family. MRI, electromyography (EMG), and nerve conduction studies were performed in three affected subjects. <b><i>Results:</i></b> The phenotype of this dominantly inherited syndrome varied in succeeding generations. Pure spastic paraplegia was present in the earliest generation; subsequent generations had ataxia and mental retardation. MRI showed marked atrophy of the spinal cord in all patients and cerebellar atrophy in those with ataxia. 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. Analysis of intergenerational differences in age at onset of symptoms suggests genetic anticipation. Using RED, the authors did not detect expanded CAG, CCT, TGG, or CGT repeats that segregate with the disease. <b><i>Conclusions:</i></b> The authors describe an unusual, dominantly inherited neurologic disorder in which the phenotype (pure spastic paraplegia or spastic ataxia with variable mental retardation) differed in subsequent generations. The molecular explanation for apparent genetic anticipation does not appear to involve trinucleotide repeat expansion." @default.
• W2009023402 created "2016-06-24" @default.
• W2009023402 creator A5007808082 @default.
• W2009023402 creator A5017234412 @default.
• W2009023402 creator A5023346646 @default.
• W2009023402 creator A5025513293 @default.
• W2009023402 creator A5028242243 @default.
• W2009023402 creator A5058128991 @default.
• W2009023402 creator A5060982659 @default.
• W2009023402 creator A5066642795 @default.
• W2009023402 creator A5067866916 @default.
• W2009023402 creator A5072525956 @default.
• W2009023402 creator A5078929724 @default.
• W2009023402 creator A5085907818 @default.
• W2009023402 date "2002-02-12" @default.
• W2009023402 modified "2023-09-29" @default.
• W2009023402 title "Spastic paraplegia, ataxia, mental retardation (SPAR): A novel genetic disorder" @default.
• W2009023402 cites W1513749224 @default.
• W2009023402 cites W1549470101 @default.
• W2009023402 cites W1970648580 @default.
• W2009023402 cites W1994548822 @default.
• W2009023402 cites W1996663995 @default.
• W2009023402 cites W1999984919 @default.
• W2009023402 cites W2003491552 @default.
• W2009023402 cites W2008401091 @default.
• W2009023402 cites W2053009171 @default.
• W2009023402 cites W2057158164 @default.
• W2009023402 cites W2058831382 @default.
• W2009023402 cites W2063685191 @default.
• W2009023402 cites W2068244304 @default.
• W2009023402 cites W2069424063 @default.
• W2009023402 cites W2076171276 @default.
• W2009023402 cites W2081299461 @default.
• W2009023402 cites W2086858480 @default.
• W2009023402 cites W2094253654 @default.
• W2009023402 cites W2129286776 @default.
• W2009023402 cites W2159167610 @default.
• W2009023402 cites W2171307655 @default.
• W2009023402 doi "https://doi.org/10.1212/wnl.58.3.411" @default.
• W2009023402 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11839840" @default.
• W2009023402 hasPublicationYear "2002" @default.
• W2009023402 type Work @default.
• W2009023402 sameAs 2009023402 @default.
• W2009023402 citedByCount "20" @default.
• W2009023402 countsByYear W20090234022012 @default.
• W2009023402 countsByYear W20090234022013 @default.
• W2009023402 countsByYear W20090234022016 @default.
• W2009023402 countsByYear W20090234022020 @default.
• W2009023402 countsByYear W20090234022021 @default.
• W2009023402 countsByYear W20090234022022 @default.
• W2009023402 crossrefType "journal-article" @default.
• W2009023402 hasAuthorship W2009023402A5007808082 @default.
• W2009023402 hasAuthorship W2009023402A5017234412 @default.
• W2009023402 hasAuthorship W2009023402A5023346646 @default.
• W2009023402 hasAuthorship W2009023402A5025513293 @default.
• W2009023402 hasAuthorship W2009023402A5028242243 @default.
• W2009023402 hasAuthorship W2009023402A5058128991 @default.
• W2009023402 hasAuthorship W2009023402A5060982659 @default.
• W2009023402 hasAuthorship W2009023402A5066642795 @default.
• W2009023402 hasAuthorship W2009023402A5067866916 @default.
• W2009023402 hasAuthorship W2009023402A5072525956 @default.
• W2009023402 hasAuthorship W2009023402A5078929724 @default.
• W2009023402 hasAuthorship W2009023402A5085907818 @default.
• W2009023402 hasConcept C104317684 @default.
• W2009023402 hasConcept C118552586 @default.
• W2009023402 hasConcept C127716648 @default.
• W2009023402 hasConcept C142724271 @default.
• W2009023402 hasConcept C166252455 @default.
• W2009023402 hasConcept C180754005 @default.
• W2009023402 hasConcept C2776195251 @default.
• W2009023402 hasConcept C2777427615 @default.
• W2009023402 hasConcept C2777597760 @default.
• W2009023402 hasConcept C2779134260 @default.
• W2009023402 hasConcept C2779421357 @default.
• W2009023402 hasConcept C2779500118 @default.
• W2009023402 hasConcept C2780395223 @default.
• W2009023402 hasConcept C2780775167 @default.
• W2009023402 hasConcept C2780906641 @default.
• W2009023402 hasConcept C2781172350 @default.
• W2009023402 hasConcept C54355233 @default.
• W2009023402 hasConcept C71924100 @default.
• W2009023402 hasConcept C86803240 @default.
• W2009023402 hasConceptScore W2009023402C104317684 @default.
• W2009023402 hasConceptScore W2009023402C118552586 @default.
• W2009023402 hasConceptScore W2009023402C127716648 @default.
• W2009023402 hasConceptScore W2009023402C142724271 @default.
• W2009023402 hasConceptScore W2009023402C166252455 @default.
• W2009023402 hasConceptScore W2009023402C180754005 @default.
• W2009023402 hasConceptScore W2009023402C2776195251 @default.
• W2009023402 hasConceptScore W2009023402C2777427615 @default.
• W2009023402 hasConceptScore W2009023402C2777597760 @default.
• W2009023402 hasConceptScore W2009023402C2779134260 @default.
• W2009023402 hasConceptScore W2009023402C2779421357 @default.
• W2009023402 hasConceptScore W2009023402C2779500118 @default.
• W2009023402 hasConceptScore W2009023402C2780395223 @default.
• W2009023402 hasConceptScore W2009023402C2780775167 @default.
• W2009023402 hasConceptScore W2009023402C2780906641 @default.
• W2009023402 hasConceptScore W2009023402C2781172350 @default.

• next