The nature and frequency of cognitive deficits in children with neurofibromatosis type 1

Neurology ◽  
2005 ◽  
Vol 65 (7) ◽  
pp. 1037-1044 ◽  
Author(s):  
S. L. Hyman ◽  
A. Shores ◽  
K. N. North
2021 ◽  
Vol 11 (12) ◽  
pp. 1591
Author(s):  
Hai Xue ◽  
Qiong Wu ◽  
Zhijun Yang ◽  
Bo Wang ◽  
Xingchao Wang ◽  
...  

Cognitive impairments and social-function deficits are severe complaints in neurofibromatosis type 1 (NF1) patients. Empathetic pain perception may be disrupted in NF1 patients because of high-level cognitive deficits. This study investigated the empathy profiles of adult patients with NF1, especially concerning whether explicit and implicit empathetic pain perception are abnormal in this population. We examined empathetic pain perception through a paradigm based on perceiving another person’s pain; in this task, patients were required to make judgments about the presence of pain or the laterality of the body part, as shown in a picture. Twenty NF1 patients without obvious social or communication difficulties completed the task, and the results were compared with results from the normal controls (NCs). Regarding explicit empathetic pain processing, i.e., judging the presence of “pain” or “no pain”, there were no significant differences between patients and controls in accuracy or reaction time. However, in implicit empathetic processing, i.e., judging the laterality of “pain” or “no-pain” pictures, NF1 patients had significantly lower accuracy (p = 0.038) and significantly higher reaction times (p = 0.004) than the NCs. These results were consistent with those of a previous study showing that high-level cognitive deficits were prominent in NF1 patients when performing challenging tasks. The mechanisms and related brain network activity underlying these deficits should receive attention in the future.


2013 ◽  
Vol 12 (11) ◽  
pp. 1076-1083 ◽  
Author(s):  
Thijs van der Vaart ◽  
Ellen Plasschaert ◽  
André B Rietman ◽  
Marleen Renard ◽  
Rianne Oostenbrink ◽  
...  

2021 ◽  
Vol 22 (18) ◽  
pp. 10178
Author(s):  
Emilie Doucet ◽  
Katarzyna Grychowska ◽  
Pawel Zajdel ◽  
Joël Bockaert ◽  
Philippe Marin ◽  
...  

Neurofibromatosis type 1 (NF1) is a common inherited disorder caused by mutations of the NF1 gene that encodes the Ras-GTPase activating protein neurofibromin, leading to overactivation of Ras-dependent signaling pathways such as the mTOR pathway. It is often characterized by a broad range of cognitive symptoms that are currently untreated. The serotonin 5-HT6 receptor is a potentially relevant target in view of its ability to associate with neurofibromin and to engage the mTOR pathway to compromise cognition in several cognitive impairment paradigms. Here, we show that constitutively active 5-HT6 receptors contribute to increased mTOR activity in the brain of Nf1+/− mice, a preclinical model recapitulating some behavioral alterations of NF1. Correspondingly, peripheral administration of SB258585, a 5-HT6 receptor inverse agonist, or rapamycin, abolished deficits in long-term social and associative memories in Nf1+/− mice, whereas administration of CPPQ, a neutral antagonist, did not produce cognitive improvement. These results show a key influence of mTOR activation by constitutively active 5-HT6 receptors in NF1 cognitive symptoms. They provide a proof of concept that 5-HT6 receptor inverse agonists already in clinical development as symptomatic treatments to reduce cognitive decline in dementia and psychoses, might be repurposed as therapies alleviating cognitive deficits in NF1 patients.


2008 ◽  
Author(s):  
Jonathan M. Kurss ◽  
Anna E. Craig ◽  
Jennifer Reiter-Purtill ◽  
Kathryn Vannatta ◽  
Cynthia Gerhardt

2011 ◽  
Vol 42 (01) ◽  
Author(s):  
F. Mainberger ◽  
N. Jung ◽  
M. Zenker ◽  
I. Delvendahl ◽  
U. Wahlländer ◽  
...  

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