7^th International Conference on
Neurology and Neuromuscular Diseases

Kulshrestha works at a centre of excellence for neuromuscular disorders in the UK. She and her team of doctors, physiotherapists and sports scientist are committed to provide innovative methods of rehabilitation of untreatable conditions. This project has the backing of patients and well received by FSHD charity, UK.

Statement of problem: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal read through of premature stop codons in nonsense mutation genetic disorders. Effectiveness of this drug has been assessed by National Institute of Clinical Excellence in the UK and the drug is available by managed access agreement for patients after 5 years of age. Methodology and theoretical orientation: we describe a patient with Duchenne muscular dystrophy (DMD) commenced on treatment with Ataluren at 5 years and 7 months. Physiotherapy assessments pre and post treatment are compared. Findings: this young boy had global developmental delay and was diagnosed with DMD at two and half years. He started walking at three and half years. He has significant learning difficulties and attends special school. He has point mutation in exon 65 (c.9461T>A; p.Leu3154X) inherited from mother. This is amenable for read through by Ataluren. His muscle biopsy had classic features of dystrophy. Dystrophin was absent with labelling of rod domains and only a rare revertant-like fibres are seen with a C terminal antibody. Mutations towards the C terminus affect all isoforms of dystrophin, including those in the brain. Pre-treatment timed rise from floor was 34.8 seconds, 10 meters run was 11.2 seconds and North Star Ambulatory assessment was 7/34. These responded with 5 months of treatment on Ataluren to timed rise from floor to 11 seconds, 10m run to 8 seconds and North Star Ambulatory assessment to 15/34. According to assessors this difference was related to improvement in understanding of instructions. Conclusion and significance: Effectiveness of Ataluren is proved for motor abilities in patients with DMD. This is the first case subjectively showing that Ataluren can positively impact the learning difficulties.

INTRODUCTION: The aim of study was to establish predictors of functional outcomes of acute ischemic stroke (IS) in patients with metabolic syndrome(MS). METHODS: 202 patients with MS and clinical manifestations of IS were perfomed. The functional outcome after acuit IS was assessed by the modified Rankin scale: 0-1 point –favorable functional outcome (FFO), 2-6 points–unfavorable outcome (UnFO). RESULTS:After IS, the ratio of patients experiencing FFO comprised 48% and UnFO–52%. Statistically significant (p<0,001) main predictors and clinical indicators of AFO after acute IS in patients with MS: NIHSS scale ≥10 points (relative risk (RR) 3.61; p<0,0001),and Bartel index ≤40 points (RR 2.76; р<0,0001); level Glasgow Coma Scale ≤13 points (RR 3.61; р<0,0001); complex intima-media (RR 2.37; р<0,0001); infarct zone≥25,3cm3(RR 3.09; р<0,0001);level of fasting blood glucose ≥7,6mmol/L (RR 2.4; р<0,006); reduction level of HDL lipoproteins (RR 2.37; р<0,0001);occurrence of atherothrombotic(RR 2.21) and cardioembolic subtype(RR 2.41; р<0,0001); ischemic heart disease(RR 1.69; р<0,045); total number components of MS (RR 1.5; р<0,05). SUMMARY:The most important significant predictors of UnFO after acute IS of patients with MS were definded.

Deepti pathak is currently pursuing her Ph.D degree in Biochemistry department of All India Institute of Medical Sciences. Her thesis work is based on the blood based biomarker discovery in a neurodegenerative disorder called Friedreich's ataxia

Friedreich's ataxia is characterised by the high iron and copper deposits in the brain and cardiac cells which triggers the cellular and axonal death causing increased plasma levels of the circulating nucleic acids in the patients. A quantitative study was done and the plasma levels of cell free Nucleic acids, and trace elements iron and copper were assessed and correlated with the GAA repeat numbers and frataxin levels in patients. 25 FRDA patients and 25 controls from Northern India were included. Iron and Copper level assessment were done by Nitro PAPS and Dibrom PAESA method, respectively. Fluroscent dye based Qubit 3.0 Fluorometer was used for cfNAs quantifications. Iron (Fe2+) and Copper (Cu2+) levels were found to be significantly decreased in patients (Cu; mean ± SD(range) 8±5(2-16) ; Fe mean ± SD(range) 5±3(15-13) compared to controls(Cu; mean ± SD(range) 13±8(12-29) ; Fe mean ± SD(range) 16±7(4-26) whereas free cfDNA levels were found to be higher in patients (mean ± SD(range) 73±35(2-16)) compared to controls (mean ± SD(range) 34±0.3(9-6)). There was a significant positive correlation between GAA repeat numbers and cfDNA & frataxin level and and Fe and Cu levels. Significant inverse correlation was established between GAA repeat numbers and Fe and Cu levels & frataxin and cfNA.