PMID- 29376988
OWN - NLM
STAT- MEDLINE
DCOM- 20190129
LR  - 20190129
IS  - 1997-7298 (Print)
IS  - 1997-7298 (Linking)
VI  - 117
IP  - 12
DP  - 2017
TI  - [Pathogenesis of cognitive disorders in patients with Duchenne muscular 
      dystrophy].
PG  - 78-84
LID - 10.17116/jnevro201711712178-84 [doi]
AB  - AIM: Clarification of the pathogenesis of cognitive disorders in patients with 
      Duchenne muscular dystrophy in the clinical laboratory and molecular genetic 
      study. MATERIAL AND METHODS: Thirty-six male patients with Duchenne muscular 
      dystrophy (DMD), aged from 5 to 22 years (mean age 13.7 years), were examined. 
      The control group consisted of 30 healthy people (7-22 years old, mean age 13.8). 
      The clinical, molecular-genetic and laboratory study was conducted. The search 
      for mutations in the dystrophin gene was carried out using multiplex PCR and 
      multiplex ligation-dependent probe amplification. The laboratory study included 
      determination of neurotrophins: brain-derived neurotrophic factor (BDNF), nerve 
      growth factor (NGF) and ciliary neurotrophic factor (CNTF) using immunoenzyme 
      method in serum. RESULTS AND CONCLUSION: Severe cognitive impairment was found in 
      33% of patients with DMD. The distribution of mutations in the DMD gene was not 
      uniform, most often the mutations were found in the region from exon 43 to exon 
      50. Serum concentration of NGF in patients with DMD was higher than in the 
      control group (2391 pg/ml [1587; 4136] and 553 pg / ml [314; 864], respectively 
      (p<0.001)). In the group of patients with cognitive disorders, there was a 
      decreased concentration of BGF (23 670 [21 700; 30 720] pg/ml (p<0.001)). In 
      patients with BGF concentration less than 31 000 pg/ml, the chances of cognitive 
      disorders were more than 10 times higher (p<0.001, odds ratio OR=12.0, 95% CI 
      [1.9-76.4]). Thus, biochemical mechanisms, such as NGF overexpression and BGF 
      deficiency, are involved in the development of cognitive disorders in patients 
      with DMD.
FAU - Sokolova, M G
AU  - Sokolova MG
AD  - Mechnikov North-West State Medical University, St. Petersburg, Russia.
FAU - Lobzin, S V
AU  - Lobzin SV
AD  - Mechnikov North-West State Medical University, St. Petersburg, Russia.
FAU - Nikishina, O A
AU  - Nikishina OA
AD  - Mechnikov North-West State Medical University, St. Petersburg, Russia.
FAU - Kiselev, A V
AU  - Kiselev AV
AD  - Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. 
      Petersburg, Russia.
FAU - Rezvantsev, M V
AU  - Rezvantsev MV
AD  - Kirov Military Medical Academy, St. Petersburg, Russia.
FAU - Litvinenko, I V
AU  - Litvinenko IV
AD  - Kirov Military Medical Academy, St. Petersburg, Russia.
FAU - Gavrichenko, A V
AU  - Gavrichenko AV
AD  - Mechnikov North-West State Medical University, St. Petersburg, Russia.
LA  - rus
PT  - Journal Article
TT  - Patogenez kognitivnykh rasstroistv pri myshechnoi distrofii Diushenna.
PL  - Russia (Federation)
TA  - Zh Nevrol Psikhiatr Im S S Korsakova
JT  - Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
JID - 9712194
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - 0 (Dystrophin)
RN  - 0 (NGF protein, human)
RN  - 7171WSG8A2 (BDNF protein, human)
RN  - 9061-61-4 (Nerve Growth Factor)
SB  - IM
MH  - Adolescent
MH  - Brain-Derived Neurotrophic Factor/blood/*metabolism
MH  - Child
MH  - Child, Preschool
MH  - Cognition Disorders/blood/*etiology/*metabolism
MH  - Dystrophin/genetics
MH  - Exons
MH  - Humans
MH  - Male
MH  - Muscular Dystrophy, Duchenne/blood/*complications/genetics/*psychology
MH  - Mutation
MH  - Nerve Growth Factor/blood/*metabolism
MH  - Young Adult
OTO - NOTNLM
OT  - Duchenne muscular dystrophy
OT  - blood serum
OT  - brain derived neurotrophic factor (BDNF)
OT  - ciliary neurotrophic factor (CNTF)
OT  - cognitive disorders
OT  - immunoenzyme method
OT  - mutations in dystrophin gene
OT  - nerve growth factor (NGF)
OT  - pathogenesis
EDAT- 2018/01/30 06:00
MHDA- 2019/01/30 06:00
CRDT- 2018/01/30 06:00
PHST- 2018/01/30 06:00 [entrez]
PHST- 2018/01/30 06:00 [pubmed]
PHST- 2019/01/30 06:00 [medline]
AID - 10.17116/jnevro201711712178-84 [doi]
PST - ppublish
SO  - Zh Nevrol Psikhiatr Im S S Korsakova. 2017;117(12):78-84. doi: 
      10.17116/jnevro201711712178-84.