PMID- 10480364
OWN - NLM
STAT- MEDLINE
DCOM- 19990923
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 105
IP  - 1-2
DP  - 1999 Jul-Aug
TI  - X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no
      correlation between type of mutation and age of onset.
PG  - 116-9
AB  - Adrenomyeloneuropathy (AMN) represents a milder form of X-linked
      adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder. The disease
      is characterised by an abnormal accumulation of saturated, very long chain, fatty
      acids, because of altered peroxisomal beta-oxidation that concomitantly leads to 
      demyelination in the central and peripheral nervous systems. ALD shows a highly
      variable phenotypic expression and extensive mutation analysis in ALD patients
      has failed to establish a genotype-phenotype correlation, even in the presence of
      the same ALD-gene defect. Therefore, we have looked for a relationship between
      the molecular lesion and the age of onset in 19 patients with a well-classified
      clinical course of AMN. The nearly complete novel spectrum of ALD gene mutations 
      identified has revealed no obvious correlation between the type of mutation and
      age of AMN onset in this small series. However, intrafamiliar concordance could
      be observed with respect to the occurrence of adrenocortical insufficiency. This 
      supports the idea of one (or more) additional gene(s) contributing to the
      phenotypic expression of ALD.
FAU - Wichers, M
AU  - Wichers M
AD  - Department of Clinical Biochemistry, University of Bonn, Germany.
FAU - Kohler, W
AU  - Kohler W
FAU - Brennemann, W
AU  - Brennemann W
FAU - Boese, V
AU  - Boese V
FAU - Sokolowski, P
AU  - Sokolowski P
FAU - Bidlingmaier, F
AU  - Bidlingmaier F
FAU - Ludwig, M
AU  - Ludwig M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (ABCD1 protein, human)
RN  - 0 (ATP Binding Cassette Transporter, Subfamily D, Member 1)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Membrane Proteins)
SB  - IM
MH  - ATP Binding Cassette Transporter, Subfamily D, Member 1
MH  - ATP-Binding Cassette Transporters/*genetics
MH  - Adolescent
MH  - Adrenoleukodystrophy/*genetics
MH  - Adult
MH  - *Age of Onset
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Frameshift Mutation
MH  - *Genetic Linkage
MH  - Genotype
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - *Mutation
MH  - Mutation, Missense
MH  - Phenotype
MH  - *X Chromosome
EDAT- 1999/09/10 00:00
MHDA- 1999/09/10 00:01
CRDT- 1999/09/10 00:00
PHST- 1999/09/10 00:00 [pubmed]
PHST- 1999/09/10 00:01 [medline]
PHST- 1999/09/10 00:00 [entrez]
AID - 10.1007/s004399900090 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Jul-Aug;105(1-2):116-9. doi: 10.1007/s004399900090.