scholarly journals Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies

2014 ◽  
Vol 20 (1) ◽  
pp. 89 ◽  
Author(s):  
Abdelhafid Natiq ◽  
SihamChafai Elalaoui ◽  
Thomas Liehr ◽  
Saïd Amzazi ◽  
Abdelaziz Sefiani
Keyword(s):  
2012 ◽  
Vol 224 (03) ◽  
Author(s):  
A Streltsov ◽  
S Emmrich ◽  
F Engeland ◽  
JH Klusmann

Genetics ◽  
2003 ◽  
Vol 163 (2) ◽  
pp. 571-580 ◽  
Author(s):  
William B Raich ◽  
Celine Moorman ◽  
Clay O Lacefield ◽  
Jonah Lehrer ◽  
Dusan Bartsch ◽  
...  

Abstract The pathology of trisomy 21/Down syndrome includes cognitive and memory deficits. Increased expression of the dual-specificity protein kinase DYRK1A kinase (DYRK1A) appears to play a significant role in the neuropathology of Down syndrome. To shed light on the cellular role of DYRK1A and related genes we identified three DYRK/minibrain-like genes in the genome sequence of Caenorhabditis elegans, termed mbk-1, mbk-2, and hpk-1. We found these genes to be widely expressed and to localize to distinct subcellular compartments. We isolated deletion alleles in all three genes and show that loss of mbk-1, the gene most closely related to DYRK1A, causes no obvious defects, while another gene, mbk-2, is essential for viability. The overexpression of DYRK1A in Down syndrome led us to examine the effects of overexpression of its C. elegans ortholog mbk-1. We found that animals containing additional copies of the mbk-1 gene display behavioral defects in chemotaxis toward volatile chemoattractants and that the extent of these defects correlates with mbk-1 gene dosage. Using tissue-specific and inducible promoters, we show that additional copies of mbk-1 can impair olfaction cell-autonomously in mature, fully differentiated neurons and that this impairment is reversible. Our results suggest that increased gene dosage of human DYRK1A in trisomy 21 may disrupt the function of fully differentiated neurons and that this disruption is reversible.


2014 ◽  
Vol 27 (3) ◽  
pp. 281
Author(s):  
Jorge M. Saraiva
Keyword(s):  

<strong>Keywords</strong>: Adult; Down Syndrome; Portugal.


2011 ◽  
Vol 22 (11-12) ◽  
pp. 685-691 ◽  
Author(s):  
Laura G. Reinholdt ◽  
Yueming Ding ◽  
Griffith T. Gilbert ◽  
Anne Czechanski ◽  
Jeffrey P. Solzak ◽  
...  

2013 ◽  
Vol 140 (1) ◽  
pp. 1-11 ◽  
Author(s):  
H. Hannachi ◽  
S. Mougou ◽  
I. Benabdallah ◽  
N. Soayh ◽  
N. Kahloul ◽  
...  

2017 ◽  
Vol 87 (3) ◽  
pp. 170-178 ◽  
Author(s):  
Melinda J. Pierce ◽  
Stephen H. LaFranchi ◽  
Joseph D. Pinter

CoDAS ◽  
2018 ◽  
Vol 30 (2) ◽  
Author(s):  
Cláudia Lopes Carvalho ◽  
Ariella Fornachari Ribeiro Belan ◽  
Leila Regina de Castro ◽  
Márcia Radanovic

ABSTRACT Purpose To characterize the linguistic profile of adults and elderly with Down Syndrome (DS) using the Arizona Battery for Communication Disorders of Dementia (ABCD). Methods Thirty adult individuals with DS were evaluated through the MoCA cognitive battery, four functional scales (Pfeffer, Lawton-IADL, Katz-IADL and IQCODE) and the ABCD battery, which evaluates Mental State, Episodic Memory, Linguistic Expression, Linguistic Comprehension and Visuospatial Construction. The scores obtained by the individuals in the ABCD were correlated to those obtained on the Lawton-IADL scale. Results Individuals with DS had significantly lower performance than cognitively normal adults and elderly as described in Brazilian studies. Due to the lack of similar studies in our country, we compared our results to those of elderly with Alzheimer's Disease (AD), verifying that the performance of the DS population is similar to that of AD patients, although the former presented better scores on episodic immediate memory tests. There was a significant positive correlation between the scores obtained in the Lawton-IADL and those on the constructs Mental State, Episodic Memory, Linguistic Comprehension and Total ABCD. Conclusion The ABCD battery is a useful tool in the evaluation of adults and elderly with DS and the performance of individuals in this battery correlates with indices of functionality. This is a pioneer study in Brazil, and it points to the need for a better characterization of the linguistic abilities of individuals with DS, in order to allow the elaboration of strategies that stimulate their communicative abilities as to promote greater social insertion for this population.


2005 ◽  
Vol 137A (2) ◽  
pp. 139-147 ◽  
Author(s):  
Aaron R Jeffries ◽  
Sarah Curran ◽  
Frances Elmslie ◽  
Ajay Sharma ◽  
Sharon Wenger ◽  
...  

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