PMID- 15365152
OWN - NLM
STAT- MEDLINE
DCOM- 20050408
LR  - 20190514
IS  - 1526-632X (Electronic)
IS  - 0028-3878 (Linking)
VI  - 63
IP  - 5
DP  - 2004 Sep 14
TI  - Infantile neuroaxonal dystrophy and pantothenate-kinase-associated 
      neurodegeneration: locus heterogeneity.
PG  - 922-4
AB  - 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.
FAU - Hortnagel, K
AU  - Hortnagel K
AD  - Institute of Human Genetics, GSF Research Center for Environment and Health, 
      Neuherberg, Germany.
FAU - Nardocci, N
AU  - Nardocci N
FAU - Zorzi, G
AU  - Zorzi G
FAU - Garavaglia, B
AU  - Garavaglia B
FAU - Botz, E
AU  - Botz E
FAU - Meitinger, T
AU  - Meitinger T
FAU - Klopstock, T
AU  - Klopstock T
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - 0 (Genetic Markers)
RN  - EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor))
RN  - EC 2.7.1.33 (pantothenate kinase)
RN  - SAA04E81UX (Coenzyme A)
SB  - IM
MH  - Alleles
MH  - Axons/pathology
MH  - Coenzyme A/biosynthesis
MH  - Female
MH  - *Genetic Heterogeneity
MH  - Genetic Markers
MH  - Genotype
MH  - Haplotypes/genetics
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats
MH  - Neuroaxonal Dystrophies/*genetics
MH  - Pantothenate Kinase-Associated Neurodegeneration/*genetics
MH  - Pedigree
MH  - Phosphotransferases (Alcohol Group Acceptor)/*genetics
EDAT- 2004/09/15 05:00
MHDA- 2005/04/09 09:00
CRDT- 2004/09/15 05:00
PHST- 2004/09/15 05:00 [pubmed]
PHST- 2005/04/09 09:00 [medline]
PHST- 2004/09/15 05:00 [entrez]
AID - 63/5/922 [pii]
AID - 10.1212/01.wnl.0000137046.28085.b2 [doi]
PST - ppublish
SO  - Neurology. 2004 Sep 14;63(5):922-4. doi: 10.1212/01.wnl.0000137046.28085.b2.