PMID- 10208576
OWN - NLM
STAT- MEDLINE
DCOM- 19990610
LR  - 20190718
IS  - 0959-4965 (Print)
IS  - 0959-4965 (Linking)
VI  - 10
IP  - 3
DP  - 1999 Feb 25
TI  - A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia,
      familial form.
PG  - 487-91
AB  - We found a new mutation in the GTP cyclohydrolase gene involved in
      dopa-responsive dystonia. We sequenced the GTP cyclohydrolase gene in a family
      with four siblings affected by this disorder and identified an A-T mutation in
      exon 2, leading to a non conservative amino acid substitution at codon 135 of the
      protein (Ile135Lys), which may change the conformation of the binding site of
      this enzyme. The clinical evolution was heterogeneous among carriers of the same 
      mutation, underlining the involvement of other determinants modulating the
      occurrence of the disease such as genetic or environmental susceptibility
      factors.
FAU - Brique, S
AU  - Brique S
AD  - Department of Neurology A, Hopital Roger Salengro, Centre Hospitalier
      Universitaire, Lille, France.
FAU - Destee, A
AU  - Destee A
FAU - Lambert, J C
AU  - Lambert JC
FAU - Mouroux, V
AU  - Mouroux V
FAU - Delacourte, A
AU  - Delacourte A
FAU - Amouyel, P
AU  - Amouyel P
FAU - Chartier-Harlin, M C
AU  - Chartier-Harlin MC
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Neuroreport
JT  - Neuroreport
JID - 9100935
RN  - EC 3.5.4.16 (GTP Cyclohydrolase)
RN  - VTD58H1Z2X (Dopamine)
SB  - IM
MH  - Adolescent
MH  - Amino Acid Sequence/genetics
MH  - Base Sequence/genetics
MH  - Child
MH  - Dopamine/*therapeutic use
MH  - Dystonia/*drug therapy/*genetics
MH  - Female
MH  - GTP Cyclohydrolase/*genetics
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation/*physiology
MH  - Pedigree
EDAT- 1999/04/20 00:00
MHDA- 1999/04/20 00:01
CRDT- 1999/04/20 00:00
PHST- 1999/04/20 00:00 [pubmed]
PHST- 1999/04/20 00:01 [medline]
PHST- 1999/04/20 00:00 [entrez]
AID - 10.1097/00001756-199902250-00008 [doi]
PST - ppublish
SO  - Neuroreport. 1999 Feb 25;10(3):487-91. doi: 10.1097/00001756-199902250-00008.