ArticleBMC neurology2018
SCL20A2 mutation presenting with acute ischemic stroke: a case report.
Article in BMC neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- A cross-sectional and longitudinal study of changes in complex networks related to brain function in temporal lobe epilepsy patients treated with levetiracetam intervention therapy.Brain imaging and behavior · 2026Article
- First case of Fahr's disease with homozygous mutations of SLC20A2, among the Libyan children.BMC pediatrics · 2026Article
- Fahr's disease presenting with ischemic stroke in young adult: a case report of rare disease with unique presentation.Annals of medicine and surgery (2012) · 2025Article
- Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis.Brain pathology (Zurich, Switzerland) · 2023Article
- The Genetics of Primary Familial Brain Calcification: A Literature Review.International journal of molecular sciences · 2023Review
- Brain Calcifications: Genetic, Molecular, and Clinical Aspects.International journal of molecular sciences · 2023Review
- Case report: 10 years follow-up of psychosis due to Fahr's disease complicated by a left temporal stroke.Frontiers in psychiatry · 2023Article
- Hypoxic-ischemic encephalopathy induced cognitive decline secondary to upper gastrointestinal bleeding: a case report.World journal of emergency medicine · 2023Article
- Ischemic stroke in a patient with Fahr's disease carrying biallelic mutations in theNeurosciences (Riyadh, Saudi Arabia) · 2022Article
- Primary familial brain calcification in a patient with a novel compound heterozygous mutation inAnnals of translational medicine · 2022Article
- Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report.BMC neurology · 2020Article
- Fahr's syndrome: a case of unwanted calcium in the brain.Internal and emergency medicine · 2019Article
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Authors and funding
4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary familial brain calcification (PFBC) is a rare disorder characterized by distinctive bilateral brain calcification and variable clinical presentations. However, cerebrovascular attack was rarely reported in PFBC patients. We here reported a SLC20A2 mutation patient presenting with acute ischemic stroke. CASE PRESENTATION: A 56 years old man was transferred to our hospital because of 6 days of melena and 3 days of somnolence, agitation and mood changes. Computed tomography (CT) scan showed symmetrical calcifications in bilateral basal ganglia, caudate nucleus, thalami, subcortical white matter and cerebellum, which is consistent with PFBC. Brain magnetic resonance imaging (MRI) revealed acute ischemic stroke in bilateral basal ganglia and periventricular regions. Mutational analysis identified a SLC20A2 gene mutation c.344C > T (p.Thr115Met) in exon 3. One of his daughters had also suffered from brain calcification. MR perfusion imaging revealed hypoperfusion in bilateral basal ganglia, prefrontal and temporal lobe. After treatment, he discharged with a favorable functional outcome but cognitive impairment.
conclusionsIschemic stroke can occur in PFBC patients, which may be associated with hypoperfusion and calcification of arteries. And hypoperfusion in frontotemporal lobar may be related with their cognitive impairment.
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