PMID- 10994500
OWN - NLM
STAT- MEDLINE
DCOM- 20001121
LR  - 20070510
IS  - 0016-6758 (Print)
IS  - 0016-6758 (Linking)
VI  - 36
IP  - 7
DP  - 2000 Jul
TI  - [Molecular-genetic analysis of torsion dystonia in Russia].
PG  - 952-8
AB  - For the first time in Russia, analysis of the GCH-I and DYT1 genes was carried 
      out for the purpose of direct DNA diagnostics in families with various forms of 
      hereditary torsion dystonia (TD). Four new missense mutations (Met102Lys, 
      Thr94Lys, Cys141Trp, and Ser176Thr) in the GCH-I gene were found in patients with 
      dopa-responsive dystonia (DRD), testifying to a genetic heterogeneity of this 
      clinical form of TD. The distribution of the major del GAG mutation in exon 5 of 
      the DYT1 gene was studied in patients with non-dopa-responsive dystonia (NDRD). 
      In total, the mutation was found in 68% of the patients. The frequency of this 
      mutation in Ashkenazi Jews with NDRD was 100% (twice higher than in Slavonic 
      families), suggesting the founder effect reported for NDRD in this ethnic group. 
      Mutations of the GCH-I and DYT1 genes were also found in patients with atypical 
      and questionable cases of TD, which are difficult to diagnose with methods other 
      than DNA analysis. The data obtained made it possible to extend the spectrum of 
      clinical signs of DRD and NDRD and to revise the views on true penetrance of the 
      corresponding mutant genes, which is important for medical genetic counseling in 
      affected families.
FAU - Markova, E D
AU  - Markova ED
AD  - Institute of Neurology, Russian Academy of Medical Sciences, Moscow, Russia.
FAU - Slominskii, P A
AU  - Slominskii PA
FAU - Illarioshkin, S N
AU  - Illarioshkin SN
FAU - Miklina, N I
AU  - Miklina NI
FAU - Shadrina, M I
AU  - Shadrina MI
FAU - Popova, S N
AU  - Popova SN
FAU - Limborskaia, S A
AU  - Limborskaia SA
FAU - Ivanova-Smolenskaia, I A
AU  - Ivanova-Smolenskaia IA
LA  - rus
PT  - English Abstract
PT  - Journal Article
TT  - Molekuliarno-geneticheskii analiz torsionnoi distonii v Rossii.
PL  - Russia (Federation)
TA  - Genetika
JT  - Genetika
JID - 0047354
RN  - 0 (Carrier Proteins)
RN  - 0 (Molecular Chaperones)
RN  - 0 (TOR1A protein, human)
RN  - 9007-49-2 (DNA)
RN  - EC 3.5.4.16 (GTP Cyclohydrolase)
SB  - IM
MH  - Base Sequence
MH  - Carrier Proteins/*genetics
MH  - DNA
MH  - Dystonia Musculorum Deformans/epidemiology/ethnology/*genetics
MH  - Female
MH  - GTP Cyclohydrolase/*genetics
MH  - Humans
MH  - Male
MH  - *Molecular Chaperones
MH  - Mutation
MH  - Pedigree
MH  - Russia/epidemiology
EDAT- 2000/09/20 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/09/20 11:00
PHST- 2000/09/20 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/09/20 11:00 [entrez]
PST - ppublish
SO  - Genetika. 2000 Jul;36(7):952-8.