Co roku brytyjskie stowarzyszenie MNDA (Motor Neurone Disease Association) organizuje w różnych miejscach na świecie sympozjum w całości poświęcone zagadnieniom związanym z SLA. W tym roku było to XIX takie spotkanie, w Birmingham w Anglii. Celem sympozjum jest zebranie i przedstawienie środowisku medycznemu najnowszych osiągnięć naukowych dotyczących tej choroby.
Niestety, w tym roku nie nastąpił jeszcze moment, na który czekają wszyscy chorzy i ich bliscy, czyli ogłoszenie odkrycia skutecznego leku na SLA i inne choroby zaliczane do grupy chorób neuronu ruchowego (MND). Pomimo tego, każdy rok przybliża nas do tego upragnionego celu, bowiem coraz więcej naukowców jest w to zaangażowanych, a przede wszystkim więcej funduszy przeznacza się na badania mające dać chorym wymarzoną terapię. W tym roku na sympozjum zaprezentowano wiele interesujących osiągnięć uczonych z całego świata. Najważniejsze i najciekawsze z nich będziemy prezentować Państwu na naszej stronie.
Poniżej znajduje się pełna lista wykładów zaprezentowanych na tegorocznym sympozjum (niestety jedynie w języku angielskim).
SESSION 1 JOINT OPENING SESSION
Chairs: P Shaw (UK) L Greensmith (UK)
09.00-09.10 Welcome – P Shaw (UK)
09.10-09.20 Welcome – Special Guest (UK)
09.20-10.00 Communicating science to politicians and the
public – C Blakemore (UK)
SESSION 2A CELL BIOLOGY & PATHOLOGY
Chairs: C Miller (UK) L Van Den Bosch (Belgium)
10.30-11.00 The blood-brain barrier and its relevance to
pathogenesis and therapy in neurodegenerative
diseases – J Abbott (UK)
11.00-11.15 A new role for angiogenin in neurite pathfinding
and survival: implications for ALS –
V Subramanian (UK)
11.15-11.30 Retinoid signalling alterations in ALS and the
consequences of these alterations in motor
neuron-enriched cultures – C Kolarcik (USA)
11.30-11.45 Metabolic differences between brain and spinal
cord mitochondria of wild type and human familial
ALS mutant SOD1 transgenic rats –
A Panov (USA)
11.45-12.00 Differentially expressed biological processes in
relevant spinal compartments isolated by
microdissection in SOD1 transgenic mice –
J Ravits (USA)
12.00-12.15 Gene expression profiling to investigate the stress
effects of physical exercise on the motor neuron
transcriptome – L Ferraiuolo (UK)
12.15-12.30 An ALS-associated mutation in VAPB impairs
axonal transport of mitochondria – K de Vos (UK)
12.30-12.45 Spastin mutations disrupt axonal transport in
hereditary spastic paraplegia – P Kasher (UK)
Location: King’s Suite
SESSION 2B MND PHENOTYPES
Chairs: V Silani (Italy) K Talbot (UK)
10.30-11.00 ALS mimic syndromes – K Talbot (UK)
11.00-11.15 Natural history and prognosis of the flail arm and
flail leg syndromes – L Wijesekera (UK)
11.15-11.30 The clinical features that distinguish primary
lateral sclerosis (PLS) from ALS –
P Gordon (USA)
11.30-11.45 Progressive muscular atrophy (PMA) is slow ALS –
W-K Kim (Korea)
11.45-12.00 Differentiation of hereditary spastic paraparesis
from PLS in sporadic adult-onset upper motor
neuron syndromes – F Brugman (Netherlands)
12.00-12.15 Defining survival as an outcome measure in ALS –
P Gordon (USA)
12.15-12.30 How well can we predict one and two year
survival following diagnosis of ALS? –
R Miller (USA)
SESSION 3A TRANSLATIONAL STRATEGIES
Chairs: L Bruijn (USA) N Leigh (UK)
14.00-14.30 How can academic labs contribute to therapy
development? – C Lipinski (USA)
14.30-15.00 Small molecule screening for MND protection –
T Bordet (France)
15.00-15.15 Small molecule activators of the NF2-ARE
pathway for treatment of ALS –
A Higginbottom (UK)
15.15-15.30 Protein biomarkers for ALS disease progression –
R Bowser (USA)
Location: King’s Suite
SESSION 3B QUALITY OF LIFE & DECISION MAKING
Chairs: C Young (UK) G Borasio (Germany)
14.00-14.30 Measuring quality of life in health care –
A Tennant (UK)
14.30-14.45 A national survey of quality of life for ALS patients
in the United States – Z Simmons (USA)
14.45-15.00 Validation of the shorter ALS-specific quality of life
instrument: the ALSSQOL-R – Z Simmons (USA)
15.00-15.15 Giving the diagnosis of ALS and patient choice in
Japan – M Ogino (Japan)
15.15-15.30 End of life practices in ALS in the Netherlands –
M Maessen (Netherlands)
SESSION 4A TDP-43
Chairs: J Ravits (USA) M Strong (Canada)
16.00-16.30 Preferential sequestration of TDP-43 and low
molecular weight NF mRNA to stress and
degradative granules in ALS –
M Strong (Canada)
16.30-16.45 Distribution of TDP-43 and ubiquitinated
intracytoplasmic inclusions in the neuropathic
gradient of neurodegeneration in sporadic ALS –
J Ravits (USA)
16.45-17.00 Distinct patterns of TDP-43 and progranulin
expression following neuronal injury –
K Moisse (Canada)
17.00-17.15 TDP-43 pathology in ALS-linked mutant VAPB
transgenic mice – E Tudor (UK)
17.15-17.30 TDP-43 mutations as a cause of ALS –
J Sreedharan (UK)
Location: King’s Suite
SESSION 4B COMMUNICATION
Chairs: A Eisen (Canada) H Mitsumoto (USA)
16.00-16.30 Social aspects of communication – S Bloch (UK)
16.30-17.00 Advances in computation and ALS: reflections on
directions for enhancing the quality of life –
E Horvitz (USA)
17.00-17.30 The Internet, social networking and patient
empowerment – P Wicks (UK)
SESSION 5 POSTER SESSION
08.30-11.00 Presenters will attend their posters, in allocated 20-minute slots as detailed below. Session will continue
through the coffee break.
POSTER THEMES
● Therapeutic Strategies (08.30-8.50)
● In Vivo Experimental Models (08.50-09.10)
● In Vitro Experimental Models (09.10-09.30)
● Epidemiology & Genetics (09.30-09.50)
● Human Cell Biology and Pathology (09.50-10.10)
● Scientific Work in Progress (10.30-10.50)
● Cognitive and Psychological Assessment and Support
(08.30-08.50)
● Respiratory and Nutritional Management (08.50-09.10)
● Multidisciplinary Care and Quality of Life (09.10-09.30)
● Imaging, Electrophysiology & Markers of Disease
Progression (09.50-10.10)
● Improving Diagnosis, Prognosis and Disease
Progression (10.10-10.30)
● Clinical Work in Progress (10.30-10.50)
SESSION 6A USE OF THE G93A SOD1 MOUSE IN
THERAPEUTIC TESTING
Chairs: R Miller (USA) C Dingwall (UK)
11.30-11.40 Introduction – L Greensmith (UK)
11.40-11.50 Design, power and interpretation of studies in the
standard murine model of ALS – S Scott (USA)
11.50-12.00 Refinement of a mouse model of MND and
generation of novel readouts for therapeutic
assessment – R Mead (UK)
12.00-12.10 Identification of therapeutic cocktails for ALS
based on combinations of FDA-approved drugs,
nutraceuticals and metabolic precusors –
J Crow (USA)
12.10-12.40 PANEL DISCUSSION
Location: King’s Suite
SESSION 6B MANAGING ALS/MND IN CLINICAL PRACTICE
Chairs: D Mitchell (UK) J Rosenfeld (USA)
11.30-12.00 New approaches to symptom management –
J Rosenfeld (USA)
12.00-12.15 Randomized placebo-controlled crossover trial
with THC (delta 9-tetrahydrocannabinol) for the
treatment of cramps in ALS –
M Weber (Switzerland)
12.15-12.30 Evaluation of a ‘fast track’ process for the
evaluation and investigation of people with
suspected ALS – D Mitchell (UK)
SESSION 7A ROLE OF NON-NEURONAL CELLS
Chairs: M Rattray (UK) P Monk (UK)
14.00-14.30 Glial cells and neuronal repair: lessons from spinal
cord injury – G Raisman (UK)
14.30-14.45 Non-neuronal neuroprotection in ALS using glial
restricted precursor transplantation; a novel
approach for respiratory neuroprotection –
N Maragakis (USA)
14.45-15.00 Focal degeneration of glutamate-vulnerable
astrocytes in ALS – D Rossi (Italy)
15.00-15.15 Motor neuron ROS may contribute to astrocyte
pathology in a mutant SOD1 rat model of ALS –
J Weiss (USA)
15.15-15.30 Riluzole and dexamethasone but not ceftriaxone
upregulate glutamate transport activity and
expression in striatal astrocytes –
M Rattray (UK)
Location: King’s Suite
SESSION 7B MULTIDISCIPLINARY CARE MANAGEMENT
Chairs: M Bromberg (USA) A Chio (Italy)
14.00-14.30 Use of prospective registers in defining clinical
characteristics and improving care provision –
A Chio (Italy)
14.30-14.45 Diagnostic process and neurological care in
patients with ALS in Spain – J Mora (Spain)
14.45-15.00 Laparoscopic placement of gastrostomy feeding
tube (LSCG tube): initial experience –
P Nuttleman (USA)
15.00-15.15 Measuring disease progression in advanced ALS:
the ALSFRS-R Extension (ALSFRS-EX) –
P Wicks (UK)
15.15-15.30 An investigation of emotional stresses
experienced by multidisciplinary ALS clinic staff –
M Bromberg (USA)
Location: Pavilion
SESSION 7C CLINICAL ELECTROPHYSIOLOGY & IMAGING
Chairs: M Weber (Switzerland) M de Carvahlo (Portugal)
14.00-14.30 Concepts and techniques in clinical
electrophysiology – M de Carvahlo (Portugal)
14.30-14.45 Motor Unit Number Index (MUNIX): a novel
neurophysiological technique to follow disease
progression in ALS – C Neuwirth (Switzerland)
14.45-15.00 Facilitation of the jaw-jerk reflex in bulbar onset
ALS patients – J Gutierrez (Cuba)
15.00-15.15 Quantitative muscle ultrasonography in ALS –
I Arts (Netherlands)
15.15-15.30 Using the clinical phenotype to predict MRI
changes in ALS: a 4-Tesla study using fractional
anisotropy – J Katz (USA)
SESSION 8A GENETICS
Chairs: K Morrison (UK) P Andersen (Sweden)
16.00-16.30 Genome-wide association studies in complex
diseases: lessons for ALS – J Hardy (UK)
16.30-16.45 Whole genome association study reveals genetic
variants that modify survival in sporadic ALS –
J Landers (USA)
16.45-17.00 Screening for replication of genome-wide
association signals in the Irish and Polish ALS
populations – S Cronin (Ireland)
17.00-17.15 Clinical and genetic phenotype of 283 ALS
families – P Corcia (France)
17.15-17.30 Ang K17I mutation segregating with autosomal
dominant familial ALS in a large Dutch pedigree –
M van Es (Netherlands)
Location: King’s Suite
SESSION 8B COGNITIVE & PSYCHOLOGICAL CHANGE
Chairs: Z Simmons (USA) L Goldstein (UK)
16.00-16.15 Rapid screen exam for the detection of frontal and
temporal dysfunction syndromes; application to
ALS – C Flaherty-Craig (USA)
16.15-16.30 Neuroanatomical correlates of apathy in ALS: a 4
Tesla study using fractional anisotropy –
S Woolley (USA)
16.30-16.45 Social and emotional cognition and behaviour:
evidence of subclinical frontotemporal dementia in
ALS – S Abrahams (UK)
16.45-17.00 Influence of frontotemporal dementia on ALS
patients and caregivers on quality of life and
depression – A Vignola (Italy)
17.00-17.30 Research into cognitive change in ALS/MND:
implications for clinical/care management –
L Goldstein (UK)
Location: Pavilion
SESSION 8C BEYOND GUAM: NEW ASPECTS OF THE
CYANOBACTERIA/BMAA HYPOTHESIS
Chairs: W Bradley (USA) P Cox (USA)
16.00-16.15 BMAA as a possible trigger for sporadic ALS/MND:
insights from the Chamorro – P Cox (USA)
16.15-16.30 Multiple neurotoxic dietary items in the Chamorro
diet: is a link to ALS/PDC plausible? –
S Banack (USA)
16.30-16.45 Cyanobacteria, neurotoxicity and water resources –
J Metcalf (UK)
16.45-17.00 Production of the neurotoxin BMAA by
cyanobacteria throughout the world: implications
for human health – H Johnson (USA)
17.00-17.15 In vitro neurotoxicity of the cycad neurotoxin BMAA
– J Weiss (USA)
17.15-17.45 New aspects of the cyanobacteria hypothesis and
future directions – W Bradley (USA)
SESSION 9A IN VIVO MODELS
Chairs: J-P Julien (Canada) R Ribchester (UK)
08.30-08.45 SMN deficiency accelerates progression in a mouse
model of ALS – B Turner (Australia)
08.45-09.00 A novel mutation in glycine tRNA synthetase ameliorates
SOD1G93A motor neuron degeneration – E Fisher (UK)
09.00-09.15 Loss of the HSJ1 molecular chaperone exacerbates
disease phenotype in SOD1G93A mice – W Mustill (UK)
09.15-09.30 A copper-bis(thiosemicarbazonato) complex delays
disease progression and increases survival in a
transgenic SOD1G93A mouse model of ALS –
C Soon (Australia)
09.30-09.45 Drosophila as a model system to elucidate the molecular
mechanisms underlying motor neuron diseases –
G Pennetta (UK)
09.45-10.00 A SOD1 missense mutation in dogs with degenerative
myelopathy: a spontaneous animal model for ALS –
J Coates (USA)
Location: King’s Suite
SESSION 9B CLINICAL TRIALS & TRIAL DESIGN
Chairs: B Brooks (USA) M Cudkowicz (USA)
08.30-08.45 Results of a randomized controlled Phase II trial of
coenzyme Q10 (coQ10) for ALS – P Kauffman (USA)
08.45-09.00 Subcutaneous insulin-like growth factor type 1 (IGF-1) is
not beneficial for patients with ALS in a two-year trial –
E Sorenson (USA)
09.00-09.15 Two-year placebo-controlled randomized trial of gene
therapy in patients with ALS – M Zakharova (Russia)
09.15-09.30 Pyrimethamine as a therapy for SOD1 associated FALS:
early findings – D Lange (USA)
09.30-09.45 A Bayesian model to design two-stage clinical trials in
ALS – D Moore (USA)
09.45-10.00 Time to failure clinical trial for promising therapeutics in
ALS: a novel design for the best of both worlds –
D Schoenfeld (USA)
SESSION 10A SOD1 PATHOGENESIS
Chairs: S Marklund (Sweden) J Robertson (Canada)
10.30-11.00 The potential role of SOD in the pathogenesis of sporadic
ALS – J Liu (USA)
11.00-11.15 Modulation of endoplasmic reticulum stress as a
potential treatment for ALS – A Walker (Australia)
11.15-11.30 Trafficking from endoplasmic reticulum to Golgi is
disrupted in mutant SOD1 expressing cells –
J Atkin (Australia)
11.30-11.45 Zinc-deficient monomers are well-populated SOD1
unfolding intermediates: implications for ALS
pathogenesis – V Mulligan (Canada)
11.45-12.00 Isolation and proteomic characterization of mutant SOD1-
containing inclusion bodies – D Bergemalm (Sweden)
12.00-12.15 ALS2/alsin-deficient SOD1H46R transgenic mice exhibit
increased accumulation of insoluble proteins in the spinal
cord – S Hadano (Japan)
12.15-12.30 Analysis of the role of dynein mutations in attenuating
the phenotype of SOD1G93A transgenic mice –
M Hafezparast (UK)
Location: King’s Suite
SESSION 10B RESPIRATORY MANAGEMENT
Chairs: O Hardiman (Ireland) E Kasarskis (USA)
10.30-11.00 The ALS nutrition/NIPPV study – E Kasarskis (USA)
11.00-11.15 Predictive value of respiratory tests for respiratory
insufficiency in ALS – S Pinto (Portugal)
11.15-11.30 Factors associated with NIPPV compliance in patients
with ALS/MND – C Jackson (USA)
11.30-11.45 Wireless patient monitoring for the control of compliance
to NIV in ALS patients: functional and survival outcome –
A Pinto (Portugal)
11.45-12.00 Elective termination of non-invasive and mechanical
ventilation in ALS – T Meyer (Germany)
12.00-12.30 Results of a prospective multi-center trial of diaphragm
pacing in ALS: maintaining diaphragm function and
improving survival – R Onders (USA)
SESSION 11 JOINT CLOSING SESSION
Chairs: P Shaw (UK) R Dengler (Germany)
14.00-14.20 Symposium Highlights (Basic research) –
A Grierson (UK)
14.20-14.40 Symposium Highlights (Clinical Research and Care
Management) – C Desnuelle (France)
14.40-15.10 Emerging therapeutic approaches: stem cell
strategies – C Svendsen (USA)
15.10-15.40 Vaccination strategies for ALS –
J-P Julien (Canada)