ArticleMetabolic brain disease2005
Basal Ganglia calcification in mitochondrial disorders.
Article in Metabolic brain disease, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 38 citations in OpenAlex.
- Genetic background of neurological disorders with basal ganglia calcification.Journal of neurology · 2025Article
- Bilateral and Symmetrical Basal Ganglia Calcifications May Aid in Mitochondrial Disease Diagnosis in Resource-Limited Settings.The Neurohospitalist · 2023Article
- Brain Calcifications: Genetic, Molecular, and Clinical Aspects.International journal of molecular sciences · 2023Review
- Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.Cell discovery · 2022Article
- Stroke-like lesions in mitochondrial disease may resemble ischemic stroke.Journal of family medicine and primary care · 2021Article
- Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder.The American journal of case reports · 2017Article
- Cockayne syndrome: Clinical features, model systems and pathways.Ageing research reviews · 2017Review
- Mitochondrial disease in childhood: nuclear encoded.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2013Review
- Neuropathology in succinic semialdehyde dehydrogenase deficiency.Pediatric neurology · 2010Article
- [Cerebral CT and MRI in mitchondrial disorders].Der Nervenarzt · 2009Review
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Though basal ganglia calcification (BGC) has been recognized as a feature of mitochondriopathy, little is known about its frequency in a larger cohort. The aim of this work was to assess the frequency of BGC, type and frequency of clinical and additional imaging central-nervous-system (CNS) abnormalities and of non-CNS abnormalities in mitochondriopathy patients with BGC. Retrospectively reviewed were the records of all mitochondriopathy patients in whom BGC was found on cerebral CT during 10 years. Among those who underwent cerebral CT, thirty-six, 24 women, 12 men, aged 33-93 years, showed BGC. The most frequent clinical CNS manifestations in these patients were epilepsy (n = 9), Parkinson syndrome (n = 9), dementia (n = 7), dysarthria (n = 5), spasticity (n = 4), tremor (n = 4), or stroke (n = 4). Additional cerebral CT-findings were atrophy (n = 10), lacunas (n = 6), leucaraiosis (n = 6), focal gliosis (n = 4), or stroke (n = 1). MR imaging, carried out in 12 patients, confirmed BGC in one. The 36 patients presented with involvement of the CNS (n = 32), endocrine system (n = 29), peripheral nervous system (n = 28), heart (n = 23), inner ear (n = 16), eyes (n = 15), guts (n = 11), blood (n = 9), kidney (n = 2), or dermis (n = 2). BGC occurs in one sixth of non-selected patients with mitochondriopathy and is associated with clinical and imaging CNS abnormalities and multisystem disease in the majority of them.
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