HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration

Neurology

Volumn 58, Issue 11, 2002, Pages 1673-1674

  Ching, K H L ^a   Westaway, S K ^a   Gitschier, J ^b   Higgins, J J ^c   Hayflick, S J ^a,d  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c Mid Hudson Family Health Institute   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PANTOTHENATE KINASE; VERY LOW DENSITY LIPOPROTEIN;

ACANTHOCYTOSIS; AMINO ACID SEQUENCE; ARTICLE; BRAIN DEGENERATION; CASE REPORT; CLICK; EXON; FEMALE; HALLERVORDEN SPATZ DISEASE; HARP SYNDROME; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYPOLIPOPROTEINEMIA; NERVE DEGENERATION; NONSENSE MUTATION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; STOP CODON; SYNDROME;

EID: 0037062571     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.11.1673     Document Type: Article

References (6)

1. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome)
2. Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: A report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome)
3. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
4. Hallervorden-Spatz syndrome: Clinical and magnetic resonance imaging correlations
5. Acanthocytosis and neurological disorders
6. Fumble encodes a pantothenate kinase homolog required for proper mitosis and meiosis in Drosophila melanogaster