A Novel Mutation in Neurodegeneration with Brain Iron Accumulation - A Case Report.

Neurodegeneration with brain iron accumulation (NBIA), previously called Hallervorden Spatz disease, is a group of disorders which share the hallmark of iron deposition in the brain. They are collectively characterized by extrapyramidal movement disorders, particularly those of parkinsonism, dystonia, cognitive regression, neuropsychiatric abnormalities, pyramidal features, optic atrophy, and retinal abnormalities. There is aberrant brain iron metabolism, with large amounts of iron deposited in the globus pallidus and the substantia nigra pars reticulata. NBIA displays a marked genetic heterogeneity, and 10 genes have been associated with different NBIA subtypes at present. We present a 12-year-old boy with a one and a half-year history of a slow, progressive gait disturbance. An MRI of his brain revealed T2, FLAIR bilateral symmetrical hypointensities in globus pallidus and substantia nigra s/o NBIA. His genetic analysis revealed a novel homozygous missense variation in exon 2 of the C19orf12 gene (chr19:30199203; A>C) that results in the amino acid substitution of valine for phenylalanine at codon 51 (p.F51V; ENST00000392278). This is consistent with the MPAN (mitochondrial membrane protein-associated neurodegeneration) subtype.

Mobile phones and seizures: drug-resistant epilepsy is less common in mobile-phone-using patients.

BACKGROUND: Epilepsy is a condition where patients have seizures due to abnormal nerve impulses in the brain. The effect of mobile phone radiation on patients with seizures is not known. OBJECTIVE: To compare the seizure profile of patients not using mobile phones with that of their peers using mobile phones. METHODS: In a retrospective cohort study performed at the neurology outpatient department of Guntur Medical College Hospital, Guntur, India from September 2014 to September 2015, we included 178 consecutive epileptic patients aged 16-65 years, who had had seizure disorder for 1 year or more. On the basis of their possession and usage of mobile phones, patients were divided into three groups: no mobile group (NMG), home mobile group (HMG) and personal mobile group (PMG). We obtained data on seizure frequency and recorded details of mobile phone usage and their antiepileptic drug (AED) treatment. RESULTS: 107 NMG, 3 HMG and 68 PMG patients were finalised for the analysis. There was no significant difference in the number of seizures in the past year between the three groups. The PMG (3.7%) contained a clinically significant lower proportion of patients with drug-resistant epilepsy than the NMG (28.2%). Patients with drug-responsive epilepsy were 7.4 (95% CI 1.4 to 39.9) (p=0.01) times more likely to be found in the PMG than in the NMG after adjustment for differences in sex and occupation. CONCLUSIONS: Although the experimental data remain inconclusive, our clinical study suggests that patients who use mobile phones are less likely to have drug-resistant epilepsy.

Stroke: Changing Risk Factor Profile and Unaltered Mean Age in a Developing Country. A Retrospective Study and Literature Review.

BACKGROUND: The rapid changes in the lifestyles of people in the developing countries such as India are known to increase the incidence of risk factors for stroke like hypertension (HTN), diabetes mellitus and dyslipidemia. Tobacco smoking and alcoholism are on the rise. Hence, stroke might occur in younger age groups when compared to the earlier generations. We compared data of age at stroke in India across a decade. METHODS: Data from medical case records of 299 stroke patients from our tertiary referral Government General Hospital, Guntur, from January 2012 to December 2014 are collected and compared with previous studies of stroke in India. RESULTS: The mean age at stroke was 55 (14) years with 32.3% women. The prevalence of smoking was 43%, HTN 46%, diabetes 17% and dyslipidemia 54.6%. A previous medical diagnosis of coronary artery disease was reported in 0.01% cases. When compared to previous studies, there was no significant change in mean age of stroke (p = 1.0). While smoking and dyslipidemias have increased, HTN and diabetes were more in earlier decades. CONCLUSIONS: The age at stroke has remained constant over the last 4 decades in India. The profile of risk factors for stroke has changed over the years.