XIth International Congress on Neuromuscular Diseases by rtu18834


									                                                                                                                                  Conference Report

XIth International Congress on Neuromuscular Diseases
Istanbul, Turkey, 2-7 July, 2006.

        mong four teaching courses, 25 plenary                                                              peripheral nerve disorders, most notably the
        lectures, 14 focused symposiums and 10                                                              inflammatory neuropathies, no trials with neu-
        workshops, over 150 oral presentations,                                                             roprotective and neuroregenerative agents have
more than 300 posters, plus two drug company                                                                been concluded yet. Experimental trials have
sponsored satellite symposia, spread over six                                                               shown, however, that erythropoietin prevents
days and four floors of the grand Lutfi Kirdar                                                              distal axonal degeneration in a mouse model of
Convention and Exhibition Centre in Istanbul,                                                               taxol-induced neuropathy (John Hopkins
I can only present selected highlights, which                                                               group).
may be biased towards personal interest, and, at
least in part, my inability to be in more than                                                              Amyotrophic lateral sclerosis(ALS) /
one place at one time.                                                                                      Spinal muscular atrophy (SMA)
                                                                                                            Since its description by Charcot, the mecha-
Muscle                                                                                                      nism of selective death of motor neurons in
The early morning plenary lectures ranged           mutations in each subunit of presynaptic,               ALS has remained elusive. DW Cleveland from
from basic sciences/biology to clinical and         synaptic, postsynaptic receptor defects, includ-        San Diego reported the use of antisense
research in myopathies/muscular dystrophies.        ing MuSK as a new target for mutations which            oligonucleotides to interfere with expression of
A special session was devoted to Dr Duchenne        decrease the density of AChR on the junctional          the abnormal SOD1 gene in models of familial
de Boulogne’s 200th centenary and was given         folds. John Newsom-Davis delivered a succinct           ALS. The authors are now preparing to test this
by the eminent French neuropathologist,             overview of MG and pointed out there are still          treatment in primates and the first (phase 1)
Michel Fardeau. The work of Duchenne was            many unresolved issues such as whether                  clinical trial may be ready to start in 2007.
really impressive by its scope, as well as by the   thymectomy is beneficial in the non-thymoma-               Whereas SMA is an inherited neuromuscular
number of technical innovations that made it        tous MG patient. This debate may be resolved            disorder which affects all components of motor
possible: electrical stimulation of the muscles,    by an ongoing large multicentre international           unit, the gene SMN, which codes for SMN pro-
muscle biopsy samples studied microscopically       single blind randomised clinical trial (RCT) of         tein, is either missing or reduced. Kathyrn
and finally, photography for the analysis of the    thymectomy. RCTs of mycophenolate mofetil in            Swoboda (Utah) presented data from two com-
physiology of facial expression. His achieve-       generalised MG and prednisone treatment in              pleted open label studies of several compounds
ments are still more impressive when one con-       ocular MG are also ongoing.                             which enhance SMN expression in patient cell
siders that they were those of a simple medical        Bertrand Fontaine delivered an excellent             lines or prolong survival in an SMA animal
practitioner, whose life had very difficult         review of exercise tests coupled to electromyo-         model.
moments.                                            graphy to increase the sensitivity of the diag-
   Novel ways to treat muscular dystrophy           nostic procedure for channelopathies,                   Conclusion
(especially Duchenne type) may include axon         enabling prediction for groups of mutations             Some of the advances presented at this congress
skipping, stop codon read-through, upregula-        that can be subsequently directed by molecu-            had immediate clinical relevance. The best
tion of utrophin, myostatin inhibition, myo-        lar diagnosis.                                          management of the neuropathic consequences
genic cell transplantation. However, significant                                                            of glucose intolerance or metabolic syndrome is
technical challenges remain regarding their use     Peripheral nerve                                        by treating the underlying cause. Also, pred-
in humans and these approaches will take sev-       P James Dyck Jr from the Mayo clinic gave an            nisolone usage in neuralgic amyotrophy and
eral more years before being widely available in    account of the utility of targeted proximal fas-        enzyme replacement therapy in Fabry's neu-
a clinical setting.                                 cicular nerve biopsies from abnormal sites              ropathy were presented. In the future, condi-
                                                    demonstrated by MRI (3 Tesla). Their experi-            tions such as ALS or DMD may have mecha-
Neuromuscular junction                              ence showed proximal biopsy, despite being              nism-specific disease-modifying treatments, as
Investigation of congenital myasthenic syn-         invasive, may be justifiable because of low             they share the final common pathway of endo-
dromes (CMS) has disclosed a diverse array of       morbidity and significant therapeutic impli-            plasmic reticulum stress induced proteins.
molecular targets. Andrew Engel linked the          cations.
clinical, eletrophysiologic, and morphologic           Although some progress has been made in                 Dr J H Tho, SpR in Clinical Neurophysiology,
studies of endplates for detecting CMS-related      the evidence base for treatment of uncommon                     St Bartholomew's Hospital, London, UK.

CONFERENCE PREVIEW:                   Epilepsy Specialist Nurse Association (ESNA)
Birmingham, UK, 22-24 November, 2006.

       he 2006 ESNA annual conference offers a      tory. Dr Hugh Richards, a neuropsychiatrist,            An afternoon on ‘How to get the best from you
       two and a half day programme which           will discuss mental health issues and epilepsy.         and your patient’ will be led by Dr John Paul
       provides support, information and            Alice Hanscombe will lead on how to develop             Leach, consultant neurologist. As well as shar-
advice to health care professionals caring for      skills on telephone work.                               ing his clinical experience of working with peo-
people with epilepsy. It will include workshops        Platform presentations include Beth Irwin,           ple with epilepsy there will be workshops in the
by epilepsy nurse specialist in paediatrics Pipa    epilepsy nurse and midwife, who will update us          three specialist areas. Finally there will be the
Hall, who will demonstrate a project that           on the UK pregnancy register. Jayne                     ESNA Annual General Meeting and presenta-
increased epilepsy awareness in the education       Fotheringham, chief technician, will discuss the        tion of the Malcolm Taylor Award for the best
system through theatre/acting. Phil Tittensor,      use and interpretation of EEG in epilepsy. Dr           poster presentation and the Achievements in
epilepsy nurse specialist in adults, will present   Leslie Mac, paediatric neurologist, will talk on        the Care of Epilepsy Awards.
the research he has undertaken in complimen-        the subject of MRI.
tary therapies in epilepsy. Dr Simon                   You will have the choice of listening to spe-               For further information contact:
Nightingale, a consultant neurologist, will dis-    cialists in paediatrics, adults and learning dis-               melesina.goodwin@ngh.nhs.uk
cuss his experience in taking a neurological his-   abilities on the topic of ‘It’s not always epilepsy’.

                                                                                                                    ACNR • VOLUME 6 NUMBER 4 • SEPTEMBER/OCTOBER 2006   I 35

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