Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series

Cerebral calcification may be caused by several potentially treatable conditions, however, in most cases it does not receive special attention in clinical practice. From the point of view of etiology, the diseases associated with cerebral calcification can be divided into two main groups: idiopathic...

Full description

Saved in:
Bibliographic Details
Published in:Metabolic brain disease 2021-10, Vol.36 (7), p.2131-2139
Main Authors: Salamon, András, Zádori, Dénes, Ujfalusi, Anikó, Szpisjak, László, Lukács, Melinda, Bihari, Brigitta, Szépfalusi, Noémi, Németh, Viola Luca, Maróti, Zoltán, Horváth, Emese, Balogh, István, Bereczki, Csaba, Klivényi, Péter, Kalmár, Tibor
Format: Article
Language:English
Subjects:
Abnormalities
Basal Ganglia Diseases
Biochemistry
Biomedical and Life Sciences
Biomedicine
Brain
Brain - diagnostic imaging
Brain research
Calcification
Calcification (ectopic)
Calcinosis - complications
Calcinosis - diagnostic imaging
Calcinosis - genetics
Comparative Genomic Hybridization
Etiology
Hereditary diseases
Humans
Hybridization
Metabolic Diseases
Neurodegenerative Diseases
Neurology
Neurosciences
Oncology
Original Article
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Cerebral calcification may be caused by several potentially treatable conditions, however, in most cases it does not receive special attention in clinical practice. From the point of view of etiology, the diseases associated with cerebral calcification can be divided into two main groups: idiopathic (mostly incurable) and secondary (potentially treatable). The first group includes mainly the hereditary diseases identified before 2021 (primary familial brain calcification subtypes, previously known as Fahr’s disease or Fahr’s syndrome). In contrast, the second group includes diseases with cerebral calcification that develop generally as a consequence of metabolic/endocrine/autoimmune abnormalities. The aim of our research was to present hereditary and non-hereditary etiologies associated with extensive brain calcification. We compare the detailed clinical, radiological and laboratory results of 6 patients with prominent cerebral calcification identified in our clinic in the last 3 years (idiopathic and secondary etiologies as well). Our research draws attention to the complexity of the etiologies in the context of cerebral calcification. We recommend, beside NGS-based sequence analyses, the application of array comparative genomic hybridization as well, to identify potential genetic etiologies associated with brain calcification.
ISSN:0885-7490
1573-7365
DOI:10.1007/s11011-021-00790-9