A novel mutation in a patient with pantothenate kinase-associated neurodegeneration [3]

CMAJ. Canadian Medical Association Journal

Volumn 173, Issue 6, 2005, Pages 578-579

  Saleheen, Danish ^a   Nazir, Aisha ^a   Khanum, Shaheen ^a   Haider, Shajjia Razi ^a   Frossard, Philippe ^a  

^a AGA KHAN UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

PANTOTHENATE KINASE;

ADOLESCENT; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DNA ISOLATION; DNA SEQUENCE; GENE MUTATION; GENETIC SCREENING; HUMAN; LETTER; MALE; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; POLYMERASE CHAIN REACTION;

EID: 25144462708     PISSN: 08203946     EISSN: 14882329     Source Type: Journal    
DOI: 10.1503/cmaj.1050096     Document Type: Letter

References (4)

1. Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003;348:33-40.
2. Koeppen AH, Dickson AC. Iron in the Hallervorden-Spatz syndrome. Pediatr Neurol 2001;25: 148-55.
3. Saleheen D, Frossard P, Ozair MZ, Kazmi MA, Khalid H, Khealani B. The "eye of the tiger" sign. CMAJ 2005;172(1):38.
4. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 2001; 28:345-9.