TY  - JOUR
A1  - Üçeyler, Nurcan
A1  - Valet, Michael
A1  - Kafke, Waldemar
A1  - Tölle, Thomas R.
A1  - Sommer, Claudia
T1  - Local and Systemic  Cytokine Expression in Patients with Postherpetic Neuralgia
N2  - Background

Postherpetic neuralgia (PHN) is the painful complication of a varicella zoster virus reactivation. We investigated the systemic and local gene expression of pro- and anti-inflammatory cytokine expression in patients with PHN.

Methods

Thirteen patients with PHN at the torso (Th4-S1) were recruited. Skin punch biopsies were obtained from the painful and the contralateral painless body area for intraepidermal nerve fiber density (IENFD) and cytokine profiling. Additionally, blood was withdrawn for systemic cytokine expression and compared to blood values of healthy controls. We analyzed the gene expression of selected pro- and anti-inflammatory cytokines (tumor necrosis factor-alpha [TNF] and interleukins [IL]-1β, IL-2, and IL-8).

Results

IENFD was lower in affected skin compared to unaffected skin (p<0.05), while local gene expression of pro- and anti-inflammatory cytokines did not differ except for two patients who had 7fold higher IL-6 and 10fold higher IL-10 gene expression in the affected skin compared to the contralateral unaffected skin sample. Also, the systemic expression of cytokines in patients with PHN and in healthy controls was similar.

Conclusion

While the systemic and local expression of the investigated pro- and anti-inflammatory cytokines was not different from controls, this may have been influenced by study limitations like the low number of patients and different disease durations. Furthermore, other cytokines or pain mediators need to be considered.
KW  - neuropathic pain
KW  - cytokines
KW  - pain sensation
KW  - gene expression
KW  - nerve fibres
KW  - RNA extraction
KW  - shingles
KW  - skin tumors
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-113041
ER  - 
TY  - JOUR
A1  - Hopfner, Franziska
A1  - Schormair, Barbara
A1  - Knauf, Franziska
A1  - Berthele, Achim
A1  - Tölle, Thomas R.
A1  - Baron, Ralf
A1  - Maier, Christoph
A1  - Treede, Rolf-Detlef
A1  - Binder, Andreas
A1  - Sommer, Claudia
A1  - Maihöfner, Christian
A1  - Kunz, Wolfram
A1  - Zimprich, Friedrich
A1  - Heemann, Uwe
A1  - Pfeufer, Arne
A1  - Näbauer, Michael
A1  - Kääb, Stefan
A1  - Nowak, Barbara
A1  - Gieger, Christian
A1  - Lichtner, Peter
A1  - Trenkwalder, Claudia
A1  - Oexle, Konrad
A1  - Winkelmann, Juliane
T1  - Novel SCARB2 mutation in Action Myoclonus-Renal Failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features
JF  - BMC Neurology
N2  - Background: 

Action myoclonus-renal failure syndrome is a hereditary form of progressive myoclonus epilepsy associated with renal failure. It is considered to be an autosomal-recessive disease related to loss-of-function mutations in SCARB2. We studied a German AMRF family, additionally showing signs of demyelinating polyneuropathy and dilated cardiomyopathy. To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features. 

Methods: 

In the AMRF family all exons of SCARB2 were analyzed by Sanger sequencing. The mutation screening of unrelated patients with isolated AMRF features affected by either epilepsy (n = 103, progressive myoclonus epilepsy or generalized epilepsy), demyelinating polyneuropathy (n = 103), renal failure (n = 192) or dilated cardiomyopathy (n = 85) was performed as high resolution melting curve analysis of the SCARB2 exons. 

Results: 

A novel homozygous 1 bp deletion (c.111delC) in SCARB2 was found by sequencing three affected homozygous siblings of the affected family. A heterozygous sister showed generalized seizures and reduction of nerve conduction velocity in her legs. No mutations were found in the epilepsy, renal failure or dilated cardiomyopathy samples. In the polyneuropathy sample two individuals with demyelinating disease were found to be carriers of a SCARB2 frameshift mutation (c.666delCCTTA). 

Conclusions: 

Our findings indicate that demyelinating polyneuropathy and dilated cardiomyopathy are part of the action myoclonus-renal failure syndrome. Moreover, they raise the possibility that in rare cases heterozygous SCARB2 mutations may be associated with PNP features.
KW  - Demyelinating peripheral neuropathy
KW  - Beta-glucocerebrosidase
KW  - Epilepsy
KW  - LIMP-2
KW  - Mice
Y1  - 2011
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-141209
VL  - 11
IS  - 134
ER  -