Genetics heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern

Movement Disorders

Volumn 21, Issue 2, 2006, Pages 252-254

  Valentino, Paola ^a,b   Annesi, Grazia ^b   Cirò Candiano, Innocenza C ^b   Annesi, Ferdinanda ^b   Civitelli, Donatella ^b   Tarantino, Patrizia ^b   Naso, Francesco ^b   Spadafora, Patrizia ^b   Carrideo, Sara ^b   De Marco, Elvira V ^b   Consoli, Domenico ^c   Zappia, Mario ^a,b   Gambardella, Antonio ^a,b   Quattrone, Aldo ^a,b  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b CNR   (Italy)

^c Vibo Valentia Hospital   (Italy)

Author keywords

Hallervoden Spatz syndrome; Neurodegeneration; PANK2 gene

Indexed keywords

ARGININE; PANTOTHENATE KINASE; TRYPTOPHAN; MICROSATELLITE DNA; NUCLEOTIDE; PHOSPHOTRANSFERASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DISEASE COURSE; DNA POLYMORPHISM; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC MARKER; HALLERVORDEN SPATZ DISEASE; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; BRAIN; CHROMOSOME MAP; GENETICS; GENOTYPE; GLOBUS PALLIDUS; MIDDLE AGED; NEUROLOGIC EXAMINATION; PATHOLOGY; PEDIGREE;

ADULT; AMINO ACID SUBSTITUTION; ARGININE; BRAIN; CHROMOSOME MAPPING; FEMALE; GENETIC HETEROGENEITY; GENETIC MARKERS; GENOTYPE; GLOBUS PALLIDUS; HALLERVORDEN-SPATZ SYNDROME; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; NEUROLOGIC EXAMINATION; NUCLEOTIDES; PEDIGREE; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); TRYPTOPHAN;

EID: 33644946103     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.20681     Document Type: Article

References (5)

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3. Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 2001;28:34-59.
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5. Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov Disord 2004;19:36-42.