Quality-of-Life Impairment in Neurofibromatosis Type 1

“…Some people with NF1 also experience much more intense painful sensations to stimuli, such as minor injuries, than those without this genetic disorder (Creange et al 1999;Wolkenstein et al 2001). Although the mechanisms by which NF1 causes enhanced painful sensation have not been elucidated, it is likely that these abnormal painful states involve the sensitization of small diameter nociceptive sensory neurons.…”

Section: Introductionmentioning

confidence: 99%

Augmented Sodium Currents Contribute to the Enhanced Excitability of Small Diameter Capsaicin-Sensitive Sensory Neurons Isolated From Nf1+/− Mice

Wang¹,

Duan²,

Hingtgen

et al. 2010

Journal of Neurophysiology

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Wang Y, Duan JH, Hingtgen CM, Nicol GD. Augmented sodium currents contribute to the enhanced excitability of small diameter capsaicin-sensitive sensory neurons isolated from Nf1ϩ/Ϫ mice. J Neurophysiol 103: 2085-2094, 2010. First published February 17, 2010 doi:10.1152/jn.01010.2009. Neurofibromin, the product of the Nf1 gene, is a guanosine triphosphatase activating protein (GAP) for p21ras (Ras) that accelerates conversion of active Ras-GTP to inactive Ras-GDP. Sensory neurons with reduced levels of neurofibromin likely have augmented Ras-GTP activity. We reported previously that sensory neurons isolated from a mouse model with a heterozygous mutation of the Nf1 gene (Nf1ϩ/Ϫ) exhibited greater excitability compared with wild-type mice. To determine the mechanism giving rise to the augmented excitability, differences in specific membrane currents were examined. Consistent with the enhanced excitability of Nf1ϩ/Ϫ neurons, peak current densities of both tetrodotoxin-resistant sodium current (TTX-R I Na ) and TTX-sensitive (TTX-S) I Na were significantly larger in Nf1ϩ/Ϫ than in wild-type neurons. Although the voltages for half-maximal activation (V 0.5 ) were not different, there was a significant depolarizing shift in the V 0.5 for steady-state inactivation of both TTX-R and TTX-S I Na in Nf1ϩ/Ϫ neurons. In addition, levels of persistent I Na were significantly larger in Nf1ϩ/Ϫ neurons. Neither delayed rectifier nor A-type potassium currents were altered in Nf1ϩ/Ϫ neurons. These results demonstrate that enhanced production of action potentials in Nf1ϩ/Ϫ neurons results, in part, from larger current densities and a depolarized voltage dependence of steady-state inactivation for I Na that potentially leads to a greater availability of sodium channels at voltages near the firing threshold for the action potential.

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“…The QoL in individuals with NF1 has been previously investigated in French [8] and American [9 ]cohort studies.…”

Section: Introductionmentioning

confidence: 99%

Health-Related Quality of Life in Patients with Neurofibromatosis Type 1

et al. 2008

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Background/Aims: Neurofibromatosis type 1 (NF1), a genetic condition most commonly characterized by the presence of dermal neurofibromas and café au lait macules, has a significant impact upon quality of life (QoL). The study aimed to assess the impact of NF1 on QoL. Methods: A total of 129 patients with NF1 completed the study questionnaires in an Italian academic dermatological centre and a neurofibromatosis clinic at the University of Rome. Results: All domains of general-health-related QoL were affected.Patients with serious cosmetic problemsreported a greater impact on the emotional domain. Conclusion: In our study, the impact of the cosmetic features on QoL had the greatest importance. This survey demonstrates the usefulness of QoL measurements in supplementing clinical assessments.

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Quality-of-Life Impairment in Neurofibromatosis Type 1

Abstract: Background:Neurofibromatosis type 1 affects quality of life (QoL) through association with severe complications, impact on cosmetic features, and uncertainty of the effects of the disorder.Objective: To evaluate the impact of the severity and visibility of neurofibromatosis type 1 on QoL.

Cited by 191 publications

References 16 publications

Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature

Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature

Augmented Sodium Currents Contribute to the Enhanced Excitability of Small Diameter Capsaicin-Sensitive Sensory Neurons Isolated From Nf1+/− Mice

Health-Related Quality of Life in Patients with Neurofibromatosis Type 1

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