Insights from a Pan India Sero-Epidemiological survey (Phenome-India Cohort) for SARS-CoV2.

To understand the spread of SARS-CoV2, in August and September 2020, the Council of Scientific and Industrial Research (India) conducted a serosurvey across its constituent laboratories and centers across India. Of 10,427 volunteers, 1058 (10.14%) tested positive for SARS-CoV2 anti-nucleocapsid (anti-NC) antibodies, 95% of which had surrogate neutralization activity.

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

Objective: Titin gene (TTN) mutations have been described in eight families with hereditary myopathy with early respiratory failure (HMERF). Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations could be a much more common cause of inherited muscle disease, especially in presence of early respiratory involvement.

Methods: We studied 127 undiagnosed patients with clinical presentation compatible with MFM.

Neurology research and teaching in Malawi.

In this article, British neurologists share their experiences of neurology in Malawi--as educators and researchers. Malawi is a resource-poor country in Central Africa. The spectrum of neurological illnesses is varied and primarily related to HIV and neuroinfections.

Acute hemiparesis in Sturge-Weber syndrome.

A young woman, known to have Sturge-Weber syndrome, was admitted with headache and left hemiparesis. Neuroimaging showed chronic occlusion of the venous sinuses without evidence of acute thrombus formation, or a recent vascular event.

Idiopathic intracranial hypertension in otolaryngology.

Idiopathic intracranial hypertension (IIH) is defined as increased intracranial pressure in the absence of intracranial mass or obstructive hydrocephalus. Over 80% of patients are overweight women. IIH is usually encountered in the neurology and ophthalmology practise as headaches, visual disturbance and papilloedema are the characteristic features of this syndrome.

A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.

Early onset familial Alzheimer's disease (EOFAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. Several families with an association of progressive dementia and spastic paraplegia caused by PSEN1 mutations have been described. Here we described a novel PSEN1 mutation that was associated with dementia and spastic paraplegia in a family with 5 affected individuals in three generations.

First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.

Familial hemiplegic migraine (FHM) is a rare autosomal-dominant subtype of migraine with aura, associated with hemiparesis during the aura. Here we describe a unique FHM family in which two novel allelic missense mutations in the Na,K-ATPase gene ATP1A2 segregate in the proband with hemiplegic migraine. Both mutations show reduced penetrance in family members of the proband.