Online Resource 1 Examples of diseases and conditions presenting with brain calcifications and its characteristics
Disease/condition / Sites of calcification in the brain / Possibility of leukodystrophy / ReferencesPhysiological calcification / BG, pineal gland, habenular commissure, dura, choroid plexus / - / [60, 72]
Congenital disorders
Aicardi-Goutieres syndrome / BG,thalamus, dentate nuclei of cerebellum, periventricular WM, cerebral cortex® / + / [13, 64, 88, 89, 95]
Band-like calcification polymicrogyria / Deep cortical gray matter, BG, pons, cerebellum / - / [18, 87]
Biotinidase deficiency / BG® / + / [103]
Carbonic anhydrase II deficiency / BG, gray-white matter junction, thalamus, cerebellar WM®, dentate nucleus of cerebellum® / - / [9, 15]
Dihydropteridinreductase deficiency / BG, subcortical WM, gray matter, thalamus / + / [79, 102, 113, 125]
Fabry disease / BG, thalamus® / - / [80]
Hemophagocytic lymphohistiocytosis / Gray-white matter junctions® / + / [29, 108]
Fanconi anemia / Disseminated mainly in the cerebrum and cerebellar WM but also in brainstem and BG ® / - / [44]
Revesz syndrome / Deep grey matter, periventricular WM, BG, internal capsule, thalamus / - / [93]
Sturge-Weber syndrome / Cerebral cortex (tramline gyriform calcification) / - / [22, 124]
Trisomy 21 / BG, choroid plexus, pineal body / - / [74, 75, 119]
3-hydroxyisobutyric aciduria / Cerebral WM® / + / [26]
Infectious disorders
Chronic active Epstein-Barr virus infection / BG / + / [31, 52, 59, 81]
CNS brucellosis / BG, dentate nucleus of cerebellum®, cerebrum and cerebellar WM® / - / [82]
CNS cryptococcosis / Thalamus®, cerebral WM (multiple)® / - / [20, 99]
CNS tuberculosis / Meningeal, within parenchymal granulomata® / + / [123]
Congenital rubella syndrome / Periventricular WM®, BG®, brainstem® / + / [24, 86, 97]
Congenital toxoplasmosis / Multiple (BG, cerebral cortex, periventricular WM, cerebellum, thalamus) / + / [1, 67, 115, 116]
Congenital cytomegalovirus infection / Subependymal lesion, periventricular WM, subependymal lesions, BG / + / [41]
Herpes simplex infection / Cerebral cortex (gyriform), BG / + / [42, 57]
HIV encephalopathy / BG, periventricular WM, cerebellum® / + / [34, 56]
Inflammatory disorders
Systemic lupus erythematosus / BG, thalamus®, centrum semiovale®, dentate nucleus and WM of cerebellum® / + / [4, 5, 43, 77, 78, 92, 127]
Systemic sclerosis / Cerebral cortex (gyriform)®, BG® / + / [46, 48, 49]
Tuberous sclerosis / Calcified nodule, gray-white matter junction, BG®, cerebral cortex (gyriform) ®, cerebellum® / + / [3, 101, 105, 106]
Neurodegenerative disorders
Alexander disease, late onset / Cerebral cortex®, periventricular WM®, BG®, thalamus®, cerebellum® / + / [54, 117]
Autosomal dominant chromosome instability syndrome / BG / + / [53]
Autosomal dominant dystonia-plus syndrome with brain calcinosis / Subcortical WM, BG, thalamus, cerebellum / - / [126]
Cerebral sparganosis / Cerebral cortex, subcortical WM, BG, midbrain / + / [23, 128]
CRMCC / Multiple (cerebral cortex, periventricular WM, BG, thalamus, brainstem,cerebellum) / + / [8, 17, 90]
DNTC / Cerebral cortex, BG, dentate nucleus of cerebellum, deep WM, thalamus / - / [50, 63, 85]
Fried syndrome / BG, thalamus / - / [100, 112]
Haw-River syndrome / BG / + / [19, 38]
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1 / BG / - / [36, 91, 98]
Kearns-Sayre syndrome / BG / - / [32, 47, 96, 104]
Krabbe disease / Deep cerebral cortex and WM®, posterior limb of internal capsule®, BG, cerebral WM® / + / [39, 69, 70]
Leukoencephalopathy with cerebral calcifications and cyst / Cerebral WM, BG, thalamus, dentate nucleus of cerebellum / + / [16, 30, 83, 107]
EICGMR / Cerebral WM, pons, BG, pituitary gland, hypothalamus / + / [14]
Lipoid proteinosis / Temporal lobe involving amygdala, parahippocampal gyrus / - / [6, 37, 45, 55, 84]
Nasu-Hakola disease / BG / + / [73, 111]
Paroxysmal kinesigenic dyskinesia / BG, thalamus®, dentate nucleus of cerebellum ® / - / [27, 33, 114]
PLOSL / BG / + / [71]
Primary Familial Brain Calcification / BG, cerebral WM, thalamus, brainstem, dentate nucleus of cerebellum / + / [109]
SCA20 / Dentate nucleus of cerebellum / - / [61]
PLICCD / Periventricular WM / + / [66]
Metabolic disorders
Autoimmune polyendocrine syndrome type I / BG, Subcortical WM, thalamus, cerebellum / - / [2, 35]
Xeroderma pigmentosum- Cockayne syndrome / BG, cerebral cortex, dentate nucleus of cerebellum, cerebral WM®, thalamus® / + / [62, 110]
Hyperparathyroidism / BG®, deep gray matter®, subcortical WM®, dura® / - / [12, 76]
Hypoparathyroidism / BG, subcortical WM, thalamus, cerebellum,dura / - / [11]
Hypothyroidism / BG, cerebellum / - / [7]
MELAS / BG®, cerebellum® / + / [28, 121]
MERRF / BG®, cerebellum® / - / [122]
PKAN / BG® / - / [65]
Pseudohypoparathyroidism type 1 / BG, subcortical WM, thalamus, cerebellum / - / [11]
Toxic encephalopathies
Carbon monoxide poisoning / BG / + / [51, 58]
Lead poisoning / Cerebellum, BG,subcortical WM / + / [10, 94, 120]
Methotrexate encephalopathy / Cerebral WM, BG / + / [25, 40]
Radiation therapy / Cerebral cortex, cerebral WM,BG, thalamus, midbrain, pons, / + / [21, 68, 118]
Tumor / Depending on tumors / [60, 72]
Vascular disorders / Affected lesions / ± / [60, 72]
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