title: Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.
abstract: Common clinical, radiologic, and pathologic features in infantile neuroaxonal dystrophy (INAD) and pantothenate kinase-associated neurodegeneration (PKAN) have led to the hypothesis of an allelic relationship. With the discovery of the gene defect in PKAN, this can now be tested directly. The authors excluded linkage in one consanguineous INAD family by haplotype analysis. Moreover, sequencing in seven INAD families revealed no mutations in PANK2 or in other genes of CoA biogenesis. Thus, INAD and PKAN are genetically heterogeneous disorders.
authors.affiliation: Institute of Human Genetics, GSF Research Center for Environment and Health, Neuherberg, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Hörtnagel
authors.forename: N
authors.initials: N
authors.lastname: Nardocci
authors.forename: G
authors.initials: G
authors.lastname: Zorzi
authors.forename: B
authors.initials: B
authors.lastname: Garavaglia
authors.forename: E
authors.initials: E
authors.lastname: Botz
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: T
authors.initials: T
authors.lastname: Klopstock
mesh_terms: D000483:Alleles; D001369:Axons / Q000473:pathology; D003065:Coenzyme A / Q000096:biosynthesis; D005260:Female; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D019150:Neuroaxonal Dystrophies / Q000235:genetics*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics*; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; D003065:Coenzyme A