Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration

Movement Disorders

Volumn 29, Issue 4, 2014, Pages 574-575

  Rathore, Geetanjali S ^a   Schaaf, Christian P ^a,b   Stocco, Amber J ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; BETA PROPELLER PROTEIN ASSOCIATED NEURODEGENERATION; BRAIN ATROPHY; CASE REPORT; CHILD; FEMALE; GENE; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; LETTER; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; WDR45 GENE; DEGENERATIVE DISEASE; DYSTONIA; GENETICS; MUTATION; QUADRIPLEGIA;

CARRIER PROTEIN; WDR45 PROTEIN, HUMAN;

ADOLESCENT; CARRIER PROTEINS; DYSTONIA; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MUTATION; NERVE DEGENERATION; NEURODEGENERATIVE DISEASES; QUADRIPLEGIA;

EID: 84898057584     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25868     Document Type: Letter

References (5)

1. Gregory A, Hayflick S. Neurodegeneration with brain iron accumulation disorders overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, eds. GeneReviews [Internet]. Seattle, WA: University of Washington-Seattle 1993-2014.
2. 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, 449e1.
3. 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.
4. 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.
5. Schneider SA, Dusek P, Hardy J, Westenberger A, Jankovic J, Bhatia KP. Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA). Curr Neuropharmacol 2013;11:59-79.