Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration

Pediatric Neurology

Volumn 51, Issue 6, 2014, Pages 843-845

  Van Goethem, Gert ^a   Livingston, John H ^b   Warren, Daniel ^b   Oojageer, Anthony J ^c,d   Rice, Gillian I ^c,d   Crow, Yanick J ^c,d,e,f  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^c Centre for Genetic Medicine Institute of Human Development Faculty of Medical and Human Sciences   (United Kingdom)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Basal ganglia calcification; Beta propeller protein associated neurodegeneration (BPAN); Neurodegeneration with brain iron accumulation (NBIA); WDR45

Indexed keywords

IRON; PROLINE; PROTEIN; PROTEIN WDR45; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BETA PROPELLER PROTEIN ASSOCIATED NEURODEGENERATION; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DEMENTIA; DEVELOPMENTAL DISORDER; DOMINANT INHERITANCE; DYSTONIA; EXON; FAHR DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GLOBUS PALLIDUS; HETEROZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; NERVE DEGENERATION; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NUCLEAR MAGNETIC RESONANCE IMAGING; SUBSTANTIA NIGRA; X CHROMOSOME LINKED DISORDER;

EID: 84912532720     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.08.017     Document Type: Article

References (14)

1. Livingston JH, Stivaros S, van der Knaap MS, Crow YJ. Recognizable phenotypes associated with intracranial calcification. Dev Med Child Neurol. 2013;55:46-57.
2. Kruer MC, Boddaert N. Neurodegeneration with brain iron accumulation: a diagnostic algorithm. Semin Pediatr Neurol. 2012;19:67-74.
3. Uchino A, Noguchi T, Nomiyama K, et al. Manganese accumulation in the brain: MR imaging. Neuroradiology. 2007;49:715-720.
4. Gregory A, Hayflick SJ. Genetics of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep. 2011;11:254-261.
5. Tennison MB, Bouldin TW, Whaley RA. Mineralization of the basal ganglia detected by CT in Hallervorden-Spatz syndrome. Neurology. 1988;38:154-155.
6. Goldberg W, Allen N. Nonspecific accumulation of metals in the globus pallidus in Hallervorden-Spatz disease. Trans Am Neurol Assoc. 1979;104:106-108.
7. Wu YW, Hess CP, Singhal NS, Groden C, Toro C. Idiopathic basal ganglia calcifications: an atypical presentation of PKAN. Pediatr Neurol. 2013;49:351-354.
8. Haack TB, Hogarth P, Kruer MC, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet. 2012;91:1144-1149.
9. Saitsu H, Nishimura T, Muramatsu K, et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet. 2013;45:445-449.449e441.
10. Ichinose Y, Miwa M, Onohara A, et al. Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). Neurol Clin Pract. 2014;4:175-177.
11. Hayflick SJ, Kruer MC, Gregory A, et al. Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain. 2013;136(Pt 6):1708-1717.
12. Schneider SA, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation. Semin Pediatr Neurol. 2012;19:57-66.
13. Dusi S, Valletta L, Haack TB, et al. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet. 2014;94:11-22.
14. Zhu WZ, Qi JP, Zhan CJ, et al. Magnetic resonance susceptibility weighted imaging in detecting intracranial calcification and hemorrhage. Chin Med J (Engl). 2008;121:2021-2025.