Matches in SemOpenAlex for { <https://semopenalex.org/work/W3023013555> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W3023013555 abstract "OBJECTIVE: To describe a Japanese family with idiopathic basal ganglia calcification (IBGC) with novel SLC20A2 mutation presenting with late-onset hallucination and delusion. BACKGROUND: IBGC, also known as Fahr disease, is a neuropsychiatric disorder characterized by symmetric calcification in the basal ganglia and other regions in central nervous system without apparent metabolic disorders. Clinical features include a variable combination of movement disorders and neuropsychiatric symptoms. Recently, SLC20A2 mutations have been identified in several IBGC families with autosomal dominant inheritance. DESIGN/METHODS: Case: A 73-year-old Japanese woman developed an auditory hallucination and delusion. Neuropsychological tests revealed that she had short-term memory loss, working memory deficit, and impaired cognitive flexibility. Her brain CT images revealed symmetric calcification in the basal ganglia, thalamus, subcortical white matter, and cerebellar dentate nuclei. Her elder sister aged 80 years and her brother aged 78 were also examined. Although both of them were asymptomatic, brain CT images revealed that her brother had calcification in similar regions with higher severity than the patient. RESULTS: We found the novel SLC20A2 missense mutation of p.L108P both in the patient and her asymptomatic brother with brain calcification. The missense mutation of p.L108P was predicted as probably damaging by PolyPhen-2 and deleterious by SIFT. Leucine at position 108 is well conserved among species. The missense mutation causes an amino acid substitution located in ProDom domain of SLC20A2, which is critical for Pi transport function. This mutation was absent in her asymptomatic sister without brain calcification and 196 unrelated Japanese controls. 99 mTc-ECD single-photon emission CT revealed hypoperfusion at the ventrolateral prefrontal cortex of the proband. CONCLUSIONS: We identified the first case of genetically proven IBGC in a Japanese family with a SLC20A2 mutation. Our case may emphasize the importance of evaluating calcification by brain CT in elderly patients with hallucination and delusion. Disclosure: Dr. Kasuga has nothing to disclose. Dr. Konno has nothing to disclose. Dr. Nishizawa has nothing to disclose. Dr. Ikeuchi has nothing to disclose." @default.
- W3023013555 created "2020-05-13" @default.
- W3023013555 creator A5023346646 @default.
- W3023013555 creator A5033624976 @default.
- W3023013555 creator A5034173900 @default.
- W3023013555 creator A5042702577 @default.
- W3023013555 date "2014-04-08" @default.
- W3023013555 modified "2023-09-23" @default.
- W3023013555 title "A Japanese Family with Idiopathic Basal Ganglia Calcification with Novel SLC20A2 Mutation Presenting with Late-onset Hallucination and Delusion (P2.171)" @default.
- W3023013555 hasPublicationYear "2014" @default.
- W3023013555 type Work @default.
- W3023013555 sameAs 3023013555 @default.
- W3023013555 citedByCount "0" @default.
- W3023013555 crossrefType "journal-article" @default.
- W3023013555 hasAuthorship W3023013555A5023346646 @default.
- W3023013555 hasAuthorship W3023013555A5033624976 @default.
- W3023013555 hasAuthorship W3023013555A5034173900 @default.
- W3023013555 hasAuthorship W3023013555A5042702577 @default.
- W3023013555 hasConcept C104317684 @default.
- W3023013555 hasConcept C118552586 @default.
- W3023013555 hasConcept C126838900 @default.
- W3023013555 hasConcept C142724271 @default.
- W3023013555 hasConcept C143409427 @default.
- W3023013555 hasConcept C146638467 @default.
- W3023013555 hasConcept C15744967 @default.
- W3023013555 hasConcept C169760540 @default.
- W3023013555 hasConcept C2777910003 @default.
- W3023013555 hasConcept C2778187257 @default.
- W3023013555 hasConcept C2779043874 @default.
- W3023013555 hasConcept C2780309369 @default.
- W3023013555 hasConcept C2781192897 @default.
- W3023013555 hasConcept C501734568 @default.
- W3023013555 hasConcept C529278444 @default.
- W3023013555 hasConcept C54355233 @default.
- W3023013555 hasConcept C71924100 @default.
- W3023013555 hasConcept C75563809 @default.
- W3023013555 hasConcept C86803240 @default.
- W3023013555 hasConceptScore W3023013555C104317684 @default.
- W3023013555 hasConceptScore W3023013555C118552586 @default.
- W3023013555 hasConceptScore W3023013555C126838900 @default.
- W3023013555 hasConceptScore W3023013555C142724271 @default.
- W3023013555 hasConceptScore W3023013555C143409427 @default.
- W3023013555 hasConceptScore W3023013555C146638467 @default.
- W3023013555 hasConceptScore W3023013555C15744967 @default.
- W3023013555 hasConceptScore W3023013555C169760540 @default.
- W3023013555 hasConceptScore W3023013555C2777910003 @default.
- W3023013555 hasConceptScore W3023013555C2778187257 @default.
- W3023013555 hasConceptScore W3023013555C2779043874 @default.
- W3023013555 hasConceptScore W3023013555C2780309369 @default.
- W3023013555 hasConceptScore W3023013555C2781192897 @default.
- W3023013555 hasConceptScore W3023013555C501734568 @default.
- W3023013555 hasConceptScore W3023013555C529278444 @default.
- W3023013555 hasConceptScore W3023013555C54355233 @default.
- W3023013555 hasConceptScore W3023013555C71924100 @default.
- W3023013555 hasConceptScore W3023013555C75563809 @default.
- W3023013555 hasConceptScore W3023013555C86803240 @default.
- W3023013555 hasOpenAccess W3023013555 @default.
- W3023013555 hasRelatedWork W1481519594 @default.
- W3023013555 hasRelatedWork W1797095417 @default.
- W3023013555 hasRelatedWork W1852730719 @default.
- W3023013555 hasRelatedWork W2194538521 @default.
- W3023013555 hasRelatedWork W2214645547 @default.
- W3023013555 hasRelatedWork W2239232789 @default.
- W3023013555 hasRelatedWork W2395547724 @default.
- W3023013555 hasRelatedWork W2439495172 @default.
- W3023013555 hasRelatedWork W2483991418 @default.
- W3023013555 hasRelatedWork W2589025246 @default.
- W3023013555 hasRelatedWork W2791644512 @default.
- W3023013555 hasRelatedWork W2798011756 @default.
- W3023013555 hasRelatedWork W2896713934 @default.
- W3023013555 hasRelatedWork W2908046765 @default.
- W3023013555 hasRelatedWork W2915016837 @default.
- W3023013555 hasRelatedWork W2941978460 @default.
- W3023013555 hasRelatedWork W3017310309 @default.
- W3023013555 hasRelatedWork W3028543383 @default.
- W3023013555 hasRelatedWork W3208654926 @default.
- W3023013555 hasRelatedWork W1808547283 @default.
- W3023013555 hasVolume "82" @default.
- W3023013555 isParatext "false" @default.
- W3023013555 isRetracted "false" @default.
- W3023013555 magId "3023013555" @default.
- W3023013555 workType "article" @default.