ArticleOrphanet journal of rare diseases2018
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 23 citations in OpenAlex.
- Early-onset hereditary spastic paraplegia type 56 (SPG56): clinical-molecular correlations and functional validation of CYP2U1 variants.BMC medical genomics · 2026Article
- Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.Pediatric neurology · 2025Article
- Expanding the phenotypic spectrum ofCurrent journal of neurology · 2025Article
- CNS disease associated with enhanced type I interferon signalling.The Lancet. Neurology · 2024Review
- A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant.Human genome variation · 2024Article
- NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.International journal of molecular sciences · 2024Review
- Brain Calcifications: Genetic, Molecular, and Clinical Aspects.International journal of molecular sciences · 2023Review
- Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.American journal of human genetics · 2022Article
- How to look for intracranial calcification in children with neurological disorders: CT, MRI, or both of them?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Complex dystonias: an update on diagnosis and care.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Case Report: Novel Compound HeterozygousFrontiers in immunology · 2021Article
- Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children.Brain sciences · 2020Review
- Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.Journal of clinical medicine · 2019Article
- Florid Brain Calcification in a Child with X-Linked Adrenoleukodystrophy: What Does it Signify?Annals of Indian Academy of NeurologyArticle
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Authors and funding
15 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe present a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification of unknown aetiology studied with Next Generation Sequencing (NGS) genetic analyses.
methodsWe collected all clinical and radiological data. DNA samples were tested by means of a customized gene panel including fifty-nine genes associated with known genetic diseases with cerebral calcification.
resultsWe collected a series of fifty patients. All patients displayed complex and heterogeneous phenotypes mostly including developmental delay and pyramidal signs and less frequently movement disorder and epilepsy. Signs of cerebellar and peripheral nervous system involvement were occasionally present. The most frequent MRI abnormality, beside calcification, was the presence of white matter alterations; calcification was localized in basal ganglia and cerebral white matter in the majority of cases. Sixteen out of fifty patients tested positive for mutations in one of the fifty-nine genes analyzed. In fourteen cases the analyses led to a definite genetic diagnosis while results were controversial in the remaining two.
conclusionsGenetic encephalopathies with cerebral calcification are usually associated to complex phenotypes. In our series, a molecular diagnosis was achieved in 32% of cases, suggesting that the molecular bases of a large number of disorders are still to be elucidated. Our results confirm that cerebral calcification is a good criterion to collect homogeneous groups of patients to be studied by exome or whole genome sequencing; only a very close collaboration between clinicians, neuroradiologists and geneticists can provide better results from these new generation molecular techniques.
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