PMID- 24399620
OWN - NLM
STAT- MEDLINE
DCOM- 20150413
LR  - 20191210
IS  - 1576-6578 (Electronic)
IS  - 0210-0010 (Linking)
VI  - 58
IP  - 2
DP  - 2014 Jan 16
TI  - Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype 
      definition: a study in Portuguese patients.
PG  - 49-54
AB  - INTRODUCTION: The determination of human leukocyte antigen (HLA) class II 
      genotype is widely used to confirm the diagnosis of narcolepsy with or without 
      cataplexy. The HLA genotyping is reliable, easy to perform and reassures the 
      clinician. It is also less invasive than other methodologies and is in accordance 
      with the autoimmune hypothesis for the origin of narcolepsy. AIM. To assess the 
      usefulness of genetic markers (HLA) in the differential diagnosis between 
      different sleep disorders and their relevance in the context of our population. 
      SUBJECTS AND METHODS: We analyzed a cohort of 113 patients with episodes of 
      daytime sleepiness, 38 patients were classified as narcolepsy with cataplexy, 13 
      as narcolepsy and 62 as hypersomnia/idiopathic hypersomnia. A control population 
      of 206 reportedly healthy individuals from the same geographic origin was used. 
      RESULTS: The HLA-DQB1*06:02 allele frequency was overrepresented in patients with 
      narcolepsy and narcolepsy with cataplexy (46% and 71% respectively vs. 16% in 
      control population), with a value of p = 4.53-13 for narcolepsy with cataplexy. 
      The HLA-DQB1*02 frequency was increased in the population with hypersomnia when 
      compared with the control population (55% vs. 34%; p = 0.004). CONCLUSIONS: 
      Genetic characterization has the potential to enhance the ability to carry out 
      differential diagnosis among diverse excessive daytime sleepiness phenotypes, 
      corresponding to diverse entities with different biological mechanisms.
FAU - Martins-da-Silva, Antonio
AU  - Martins-da-Silva A
AD  - Hospital de Santo Antonio, Porto, Portugal.
FAU - Lopes, Joao
AU  - Lopes J
FAU - Ramalheira, Joao
AU  - Ramalheira J
FAU - Carvalho, Claudia
AU  - Carvalho C
FAU - Cunha, Daniela
AU  - Cunha D
FAU - Costa, Paulo P
AU  - Costa PP
FAU - Silva, M Berta
AU  - Silva MB
LA  - eng
LA  - spa
PT  - Journal Article
PT  - Review
PL  - Spain
TA  - Rev Neurol
JT  - Revista de neurologia
JID - 7706841
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Female
MH  - Gene Frequency
MH  - Genes, MHC Class II
MH  - Genotype
MH  - HLA-DQ beta-Chains/analysis/genetics
MH  - Humans
MH  - Idiopathic Hypersomnia/diagnosis/*genetics
MH  - Male
MH  - Middle Aged
MH  - Narcolepsy/classification/diagnosis/*genetics
MH  - Phenotype
MH  - Portugal
MH  - Risk Factors
EDAT- 2014/01/09 06:00
MHDA- 2015/04/14 06:00
CRDT- 2014/01/09 06:00
PHST- 2014/01/09 06:00 [entrez]
PHST- 2014/01/09 06:00 [pubmed]
PHST- 2015/04/14 06:00 [medline]
AID - rn2013361 [pii]
PST - ppublish
SO  - Rev Neurol. 2014 Jan 16;58(2):49-54.