Stroke Patients' Status Post-Acute Phase of Illness. How Is It and How Ought It to Be: Ain Shams University Experience.

BACKGROUND: Stroke is a leading cause of disability worldwide with a great impact on quality of life. Ain Shams University Hospital is a tertiary center for neurology and a pioneer in offering comprehensive stroke service in the region. METHODS: A cross sectional study in which an 8 domains questionnaire was applied to all cerebrovascular stroke patients who were admitted to the stroke unit of the neurology department of Ain Shams University Hospital in the period from January 2016 till May 2017, with the aim to define pitfalls in post discharge. RESULTS: From our study show that 20% of all patients discharged from acute stroke unit did not have further follow up with any stroke doctor. Moreover, 60% of patients were not seen by a physiotherapist after discharge, including almost half of patients with moderate or severe disability on discharge who are expected to have ongoing care needs. Patients who developed stroke complications were more likely to seek follow up. As expected, continuous follow up was associated with increased adherence to secondary preventive medications. CONCLUSIONS: Patient needs should be assessed before patient discharge and patient and care givers should have clear written information on required follow up with stroke doctors, and arrangements made for receiving adequate rehabilitation post discharge.

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

We characterize a consanguineous Egyptian family with an autosomal recessively inherited familial cortical myoclonic tremor and epilepsy. We used multipoint linkage analysis to map the causative mutation to a 12.7 megabase interval within 1q31.3-q32.2 with a log of odds score of 3.6. For further investigation of the linked region in an efficient and unbiased manner, we performed exome sequencing. Within the suspected region we identified a homozygous single base pair deletion (c.503_503delG) leading to a frameshift in the coding region of the sixth exon of CNTN2 alias TAG-1 (p.Trp168fs), which segregated in the respective family. Many studies point towards an important role of the CNTN2 product contactin 2 in neuronal excitability. Contactin 2, a glycosylphosphatidylinositol-anchored neuronal membrane protein, and another transmembrane protein called contactin associated protein-like 2 (CNTNAP2 alias CASPR2) are together necessary to maintain voltage-gated potassium channels at the juxtaparanodal region. CNTN2 knockout mice were previously reported to suffer from spontaneous seizures and mutations in the CNTNAP2 gene have been described to cause epilepsy in humans. To further delineate the role of CNTN2 in patients with epilepsy, we sequenced the coding exons in 189 Caucasian patients with epilepsy. No recessive mutation was detected and heterozygote carriers of rare CNTN2 variants do not seem to be predisposed to epilepsy. Given the severity of the mutation and the proposed function of the gene, we consider this mutation as the most likely cause for cortical myoclonic tremor and epilepsy in this family.