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 / References
Physiological 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]

References

1.Abbott KH, Camp JD (1947) Extensive symmetrical cerebral calcification and chorioretinitis in identical twins (toxoplasmosis?) clinical report of cases. Bull Los Angel Neuro Soc 12:38-47

2.Abraham A, Ziv I, Steinmetz A, Groshar D, Djaldetti R (2010) Autoimmune polyendocrine syndrome type I and brain calcinosis. Parkinsonism Relat Disord 16:101-104

3.Altman NR, Purser RK, Post MJ (1988) Tuberous sclerosis: characteristics at CT and MR imaging. Radiology 167:527-532

4.Anderson JR (1981) Intracerebral calcification in a case of systemic lupus erythematosus with neurological manifestations. Neuropathol Appl Neurobiol 7:161-166

5.Andres RH, Schroth G, Remonda L (2008) Neurological picture. Extensive cerebral calcification in a patient with systemic lupus erythematosus. J Neurol Neurosurg Psychiatry 79:365

6.Appenzeller S, Chaloult E, Velho P, de Souza EM, Araujo VZ, Cendes F, Li LM (2006) Amygdalae calcifications associated with disease duration in lipoid proteinosis. J Neuroimaging 16:154-156

7.Arii J, Tanabe Y, Makino M, Sato H, Kohno Y (2002) Children with irreversible brain damage associated with hypothyroidism and multiple intracranial calcifications. J Child Neurol 17:309-313

8.Armstrong MJ, Hacein-Bey L, Brown H (2009) Cerebroretinal microangiopathy with calcifications and cysts: demonstration of radiological progression. J Comput Assist Tomogr 33:571-572

9.Awad M, Al-Ashwal AA, Sakati N, Al-Abbad AA, Bin-Abbas BS (2002) Long-term follow up of carbonic anhydrase II deficiency syndrome. Saudi Med J 23:25-29

10.Benson MD, Price J (1985) Cerebellar calcification and lead. J Neurol Neurosurg Psychiatry 48:814-818

11.Bhadada SK, Bhansali A, Upreti V, Subbiah S, Khandelwal N (2011) Spectrum of neurological manifestations of idiopathic hypoparathyroidism and pseudohypoparathyroidism. Neurol India 59:586-589

12.Bilge I, Sadikoglu B, Emre S, Sirin A, Tatli B (2005) Brain calcification due to secondary hyperparathyroidism in a child with chronic renal failure. Turk J Pediatr 47:287-290

13.Bonnemann CG, Meinecke P (1992) Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis--another case of the Aicardi-Goutieres syndrome. Neuropediatrics 23:157-161

14.Bonnemann CG, Meinecke P, Reich H (1991) Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity. J Med Genet 28:708-711

15.Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK (2011) The neurology of carbonic anhydrase type II deficiency syndrome. Brain 134:3502-3515

16.Brenner C, Del Negro MC, Borigato EM, Miranda RV (2006) Leukoencephalopathy with cerebral calcifications and cysts. Neurology 66:E32

17.Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ (2008) Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A 146A:182-190

18.Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ (2008) Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. Am J Med Genet A 146A:3173-3180

19.Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, Pericak-Vance MA, Vance JM (1994) The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet 7:521-524

20.Caldemeyer KS, Mathews VP, Edwards-Brown MK, Smith RR (1997) Central nervous system cryptococcosis: parenchymal calcification and large gelatinous pseudocysts. AJNR Am J Neuroradiol 18:107-109

21.Carl UM, Hartmann KA (2002) Heterotopic calcification as a late radiation effect: report of 15 cases. Br J Radiol 75:460-463

22.Chamberlain MC, Press GA, Hesselink JR (1989) MR imaging and CT in three cases of Sturge-Weber syndrome: prospective comparison. AJNR Am J Neuroradiol 10:491-496

23.Chang KH, Cho SY, Chi JG, Kim WS, Han MC, Kim CW, Myung H, Choi KS (1987) Cerebral sparganosis: CT characteristics. Radiology 165:505-510

24.Chang YC, Huang CC, Liu CC (1996) Frequency of linear hyperechogenicity over the basal ganglia in young infants with congenital rubella syndrome. Clin Infect Dis 22:569-571

25.Chessells JM, Cox TC, Kendall B, Cavanagh NP, Jannoun L, Richards S (1990) Neurotoxicity in lymphoblastic leukaemia: comparison of oral and intramuscular methotrexate and two doses of radiation. Arch Dis Child 65:416-422

26.Chitayat D, Meagher-Villemure K, Mamer OA, O'Gorman A, Hoar DI, Silver K, Scriver CR (1992) Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria. J Pediatr 121:86-89

27.Chung EJ, Cho GN, Kim SJ (2012) A case of paroxysmal kinesigenic dyskinesia in idiopathic bilateral striopallidodentate calcinosis. Seizure 21:802-804

28.Chung SH, Chen SC, Chen WJ, Lee CC (2005) Symmetric basal ganglia calcification in a 9-year-old child with MELAS. Neurology 65:E19

29.Chung TW (2007) CNS involvement in hemophagocytic lymphohistiocytosis: CT and MR findings. Korean J Radiol 8:78-81

30.Corboy JR, Gault J, Kleinschmidt-DeMasters BK (2006) An adult case of leukoencephalopathy with intracranial calcifications and cysts. Neurology 67:1890-1892

31.Dagdemir A, Tasdemir HA, Dilber C, Gok F, Kubar A (2006) Increased intracranial pressure due to chronic active Epstein-Barr virus infection. Pediatr Neurol 35:352-355

32.Dewhurst AG, Hall D, Schwartz MS, McKeran RO (1986) Kearns-Sayre syndrome, hypoparathyroidism, and basal ganglia calcification. J Neurol Neurosurg Psychiatry 49:1323-1324

33.Diaz GE, Wirrell EC, Matsumoto JY, Krecke KN (2010) Bilateral striopallidodentate calcinosis with paroxysmal kinesigenic dyskinesia. Pediatr Neurol 43:46-48

34.Dickson DW, Belman AL, Park YD, Wiley C, Horoupian DS, Llena J, Kure K, Lyman WD, Morecki R, Mitsudo S, et al. (1989) Central nervous system pathology in pediatric AIDS: an autopsy study. APMIS Suppl 8:40-57

35.Dutta D, Maisnam I, Ghosh S, Dasgupta R, Mukhopadhyay S, Chowdhury S (2012) Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. Indian J Endocrinol Metab 16:S495-497

36.Elhassanien AF, Alghaiaty HA (2013) Neurological manifestations in children with Sanjad-Sakati syndrome. Int J Gen Med 6:393-398

37.Emsley RA, Paster L (1985) Lipoid proteinosis presenting with neuropsychiatric manifestations. J Neurol Neurosurg Psychiatry 48:1290-1292

38.Farmer TW, Wingfield MS, Lynch SA, Vogel FS, Hulette C, Katchinoff B, Jacobson PL (1989) Ataxia, chorea, seizures, and dementia. Pathologic features of a newly defined familial disorder. Arch Neurol 46:774-779

39.Feanny SJ, Chuang SH, Becker LE, Clarke JT (1987) Intracerebral paraventricular hyperdensities: a new CT sign in Krabbe globoid cell leukodystrophy. J Inherit Metab Dis 10:24-27

40.Fernandez-Bouzas A, Ramirez Jimenez H, Vazquez Zamudio J, Alonso-Vanegas M, Mendizabal Guerra R (1992) Brain calcifications and dementia in children treated with radiotherapy and intrathecal methotrexate. J Neurosurg Sci 36:211-214

41.Fink KR, Thapa MM, Ishak GE, Pruthi S (2010) Neuroimaging of pediatric central nervous system cytomegalovirus infection. Radiographics 30:1779-1796

42.Frazer CK, Wylie EJ, Chakera TM (1995) Case report: intracranial calcification following herpes simplex encephalitis. Clin Radiol 50:802-804

43.Garcia Raya P, Gil Aguado A, Simon Merlo MJ, Lavilla Uriol P, Vega Astudillo A, Garcia Puig J (1994) Massive cerebral calcification in systemic lupus erythematosus: report of an unusual case. Lupus 3:133-135

44.Gayatri NA, Hughes MI, Lloyd IC, Wynn RF (2002) Association of the congenital bone marrow failure syndromes with retinopathy, intracerebral calcification and progressive neurological impairment. Eur J Paediatr Neurol 6:125-128

45.Goncalves FG, de Melo MB, de LMV, Barra FR, Figueroa RE (2010) Amygdalae and striatum calcification in lipoid proteinosis. AJNR Am J Neuroradiol 31:88-90

46.Gusbi O, Bernardini GL (2002) Brain calcifications in systemic sclerosis. Arch Neurol 59:1642-1643

47.Harvey JN, Barnett D (1992) Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol (Oxf) 37:97-103

48.Heron E, Fornes P, Rance A, Emmerich J, Bayle O, Fiessinger JN (1998) Brain involvement in scleroderma: two autopsy cases. Stroke 29:719-721

49.Heron E, Hernigou A, Chatellier G, Fornes P, Emmerich J, Fiessinger JN (1999) Intracerebral calcification in systemic sclerosis. Stroke 30:2183-2185

50.Ikeuchi T, Katsui T, Kasuga K, Hirose M, Nishizawa M (2012) Parkinsonian features in a patient with diffuse neurofibrillary tangles with calcification (DNTC). Parkinsonism Relat Disord 18:649-650

51.Illum F (1980) Calcification of the basal ganglia following carbon monoxide poisoning. Neuroradiology 19:213-214

52.Ishikawa N, Kawaguchi H, Nakamura K, Kobayashi M (2013) Central nervous system complications and neuroradiological findings in children with chronic active Epstein-Barr virus infection. Pediatr Int 55:72-78

53.Ishikawa S, Ishikawa M, Tokuda T, Yoshida K, Wakui K, Matsuura S, Ohara S, Sekijima Y, Hidaka E, Fukushima Y, Shigeta H, Komatsu K, Ikeda S (2000) Japanese family with an autosomal dominant chromosome instability syndrome: a new neurodegenerative disease? Am J Med Genet 94:265-270

54.Jefferson RJ, Absoud M, Jain R, Livingston JH, MS VDK, Jayawant S (2010) Alexander disease with periventricular calcification: a novel mutation of the GFAP gene. Dev Med Child Neurol 52:1160-1163

55.Kachewar SG, Kulkarni DS (2012) A novel association of the additional intracranial calcification in lipoid proteinosis: a case report. J Clin Diagn Res 6:1579-1581

56.Kauffman WM, Sivit CJ, Fitz CR, Rakusan TA, Herzog K, Chandra RS (1992) CT and MR evaluation of intracranial involvement in pediatric HIV infection: a clinical-imaging correlation. AJNR Am J Neuroradiol 13:949-957

57.Ketonen L, Koskiniemi ML (1983) Gyriform calcification after herpes simplex virus encephalitis. J Comput Assist Tomogr 7:1070-1072

58.Kim JH, Chang KH, Song IC, Kim KH, Kwon BJ, Kim HC, Han MH (2003) Delayed encephalopathy of acute carbon monoxide intoxication: diffusivity of cerebral white matter lesions. AJNR Am J Neuroradiol 24:1592-1597

59.Kimura H, Hoshino Y, Kanegane H, Tsuge I, Okamura T, Kawa K, Morishima T (2001) Clinical and virologic characteristics of chronic active Epstein-Barr virus infection. Blood 98:280-286

60.Kiroglu Y, Calli C, Karabulut N, Oncel C (2010) Intracranial calcifications on CT. Diagn Interv Radiol 16:263-269

61.Knight MA, Gardner RJ, Bahlo M, Matsuura T, Dixon JA, Forrest SM, Storey E (2004) Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 127:1172-1181

62.Koob M, Laugel V, Durand M, Fothergill H, Dalloz C, Sauvanaud F, Dollfus H, Namer IJ, Dietemann JL (2010) Neuroimaging in Cockayne syndrome. AJNR Am J Neuroradiol 31:1623-1630

63.Kosaka K (1994) Diffuse neurofibrillary tangles with calcification: a new presenile dementia. J Neurol Neurosurg Psychiatry 57:594-596

64.Kothare SV, Pungavkar SA, Patkar DP, Sainani NI, Naik MH, Gadani S (2006) Regression of white matter hypodensities with age in Aicardi-Goutieres syndrome: a case report. Childs Nerv Syst 22:1503-1506

65.Koyama M, Yagishita A (2006) Pantothenate kinase-associated neurodegeneration with increased lentiform nuclei cerebral blood flow. AJNR Am J Neuroradiol 27:212-213

66.Kuki I, Kawawaki H, Okazaki S, Kimura-Ohba S, Nakano T, Fukushima H, Inoue T, Tomiwa K, Itoh M (2011) Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration. Am J Med Genet A 155A:2832-2837

67.Lago EG, Baldisserotto M, Hoefel Filho JR, Santiago D, Jungblut R (2007) Agreement between ultrasonography and computed tomography in detecting intracranial calcifications in congenital toxoplasmosis. Clin Radiol 62:1004-1011

68.Lee KF, Suh JH (1977) CT evidence of grey matter calcification secondary to radiation therapy. Comput Tomogr 1:103-110

69.Lehman AM, Schultz KR, Poskitt K, Bjornson B, Keyes R, Waters PJ, Clarke LA, Everett R, McConnell D, Stockler S (2009) Intracranial calcification after cord blood neonatal transplantation for krabbe disease. Neuropediatrics 40:189-191

70.Livingston JH, Graziano C, Pysden K, Crow YJ, Mordekar SR, Moroni I, Uziel G (2012) Intracranial calcification in early infantile Krabbe disease: nothing new under the sun. Dev Med Child Neurol 54:376-379

71.Lorch B, Henkel K, Schaab H, Aurnhammer W, Becker T (2006) [Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy]. Nervenarzt 77:85-90

72.Makariou E, Patsalides DA (2009) Intracranial calcifications.

73.Mankad K, Davagnanam I (2010) Teaching NeuroImages: Nasu Hakola syndrome. Neurology 74:e102

74.Mann DM (1988) Calcification of the basal ganglia in Down's syndrome and Alzheimer's disease. Acta Neuropathol 76:595-598

75.Marasco JA, Jr., Feczko WA (1979) Basal ganglia calcification in Down's syndrome. Comput Tomogr 3:111-113

76.Margolin D, Hammerstad J, Orwoll E, McClung M, Calhoun D (1980) Intracranial calcification in hyperparathyroidism associated with gait apraxia and parkinsonism. Neurology 30:1005-1007

77.Masuda Y, Uchiyama Y, Hashimoto S, Uchiyama S, Iwata M (2010) Symmetrical progressive intracranial calcification in a patient with SLE. Intern Med 49:351

78.Mathur A, Choudhary HR (2000) Systemic lupus erythematosus causing cerebral infarction and basal ganglion calcification: a case report. Neurol India 48:91

79.Miladi N, Larnaout A, Dhondt JL, Vincent MF, Kaabachi N, Hentati F (1998) Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: clinical, biochemical, and neuropathologic findings. J Child Neurol 13:475-480

80.Moore DF, Ye F, Schiffmann R, Butman JA (2003) Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 24:1096-1101

81.Morita M, Tsuge I, Matsuoka H, Ito Y, Itosu T, Yamamoto M, Morishima T (1998) Calcification in the basal ganglia with chronic active Epstein-Barr virus infection. Neurology 50:1485-1488

82.Mousa AM, Muhtaseb SA, Reddy RR, Senthilselvan A, Al-Mudallal DS, Marafie AA (1987) The high rate of prevalence of CT-detected basal ganglia calcification in neuropsychiatric (CNS) brucellosis. Acta Neurol Scand 76:448-456

83.Nagae-Poetscher LM, Bibat G, Philippart M, Rosemberg S, Fatemi A, Lacerda MT, Costa MO, Kok F, Costa Leite C, Horska A, Barker PB, Naidu S (2004) Leukoencephalopathy, cerebral calcifications, and cysts: new observations. Neurology 62:1206-1209

84.Nagasaka T, Tanaka M, Ito D, Tanaka K, Shimizu H (2000) Protean manifestations of lipoid proteinosis in a 16-year-old boy. Clin Exp Dermatol 25:30-32

85.Nanda S, Bhatt SP, Pamula J, Woodruff WW, Fowler M, Miller D (2007) Diffuse neurofibrillary tangles with calcification (DNTC): Kosaka-Shibayama disease in America. Am J Alzheimers Dis Other Demen 22:535-537

86.Numazaki K, Fujikawa T (2003) Intracranial calcification with congenital rubella syndrome in a mother with serologic immunity. J Child Neurol 18:296-297

87.O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ (2010) Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet 87:354-364

88.Orcesi S, La Piana R, Fazzi E (2009) Aicardi-Goutieres syndrome. Br Med Bull 89:183-201

89.Ostergaard JR, Christensen T (2004) Aicardi-Goutieres syndrome: neuroradiological findings after nine years of follow-up. Eur J Paediatr Neurol 8:243-246

90.Polvi A, Linnankivi T, Kivela T, Herva R, Keating JP, Makitie O, Pareyson D, Vainionpaa L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE (2012) Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet 90:540-549

91.Prasad R, Kumari C, Mishra OP, Singh UK (2013) Status epilepticus in a child with Sanjad Sakati syndrome. BMJ Case Rep 2013

92.Raymond AA, Zariah AA, Samad SA, Chin CN, Kong NC (1996) Brain calcification in patients with cerebral lupus. Lupus 5:123-128

93.Revesz T, Fletcher S, al-Gazali LI, DeBuse P (1992) Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet 29:673-675

94.Reyes PF, Gonzalez CF, Zalewska MK, Besarab A (1986) Intracranial calcification in adults with chronic lead exposure. AJR Am J Roentgenol 146:267-270

95.Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 81:713-725

96.Robertson WC, Jr., Viseskul C, Lee YE, Lloyd RV (1979) Basal ganglia calcification in Kearns-Sayre syndrome. Arch Neurol 36:711-713

97.Rowen M, Singer MJ, Moran ET (1972) Intracranial calcification in the congenital rubella syndrome. Am J Roentgenol Radium Ther Nucl Med 115:86-91

98.Sabry MA, Zaki M, Abul Hassan SJ, Ramadan DG, Abdel Rasool MA, al Awadi SA, al Saleh Q (1998) Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet 35:31-36

99.Sahraian MA, Motamedi M, Azimi AR, Hasan Paknejad SM (2007) Bilateral pulvinar thalamic calcification in a patient with chronic cryptococcal meningitis. Eur J Neurol 14:e1-2

100.Saillour Y, Zanni G, Des Portes V, Heron D, Guibaud L, Iba-Zizen MT, Pedespan JL, Poirier K, Castelnau L, Julien C, Franconnet C, Bonthron D, Porteous ME, Chelly J, Bienvenu T (2007) Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. J Med Genet 44:739-744

101.Schafer JA, Berg BO, Norman D (1975) Cerebellular calcification in tuberous sclerosis. Arch Neurol 32:642-643

102.Schmidt H, Ullrich K, Korinthenberg R, Peters PE (1988) Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase. Pediatr Radiol 19:54-56

103.Schulz PE, Weiner SP, Belmont JW, Fishman MA (1988) Basal ganglia calcifications in a case of biotinidase deficiency. Neurology 38:1326-1328

104.Seigel RS, Seeger JF, Gabrielsen TO, Allen RJ (1979) Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome). Radiology 130:159-164