Role of variant p.Gly2019Ser in patients with Parkinsonism.

Background & Objectives: Parkinsonian disorder, including Parkinson's disease (PD), is an aetiologically complex neurodegenerative disorder. Mutations in leucine-rich repeat kinase 2 (LRRK2) gene have been implicated in an autosomal dominant form of PD with variable penetrance. The identification of a common LRRK2 variant (p.

Heart in the brain: classical imaging sign in bilateral medial medullary infarction.

Bilateral medial medullary infarction is a rare type of posterior fossa stroke due to occlusion of blood supply to the anteromedial aspect of the medulla. It can be diagnosed by its classical imaging appearance - the "heart sign".

PARK2 and PARK7 Gene Polymorphisms as Risk Factors Associated with Serum Element Concentrations and Clinical Symptoms of Parkinson's Disease.

Besides clinical and imaging techniques, there is a lack of molecular makers for the diagnosis of Parkinson's disease (PD). There is an immense need to develop biomarkers associated with the phenotypes which may be valuable for individualized treatment. Single-nucleotide polymorphisms (PARK2: Ser167Asn (G>A) and Val380Leu (G>C); PARK7: IVS4 + 46G>A and IVS4 + 30T>G) in PD-related genes were examined to elucidate its relationship with concentration of serum elements and clinical symptoms of PD.

Conversion of clinically isolated syndrome to multiple sclerosis: a prospective multi-center study in Eastern India.

Background: In White populations more than 60% of clinically isolated syndrome (CIS) convert to multiple sclerosis (MS) on a long-term follow-up; several predictors for conversion have been identified.

Objective: This study aimed to determine the conversion rate and the predictors of conversion from CIS to MS (McDonald 2010) among Indians. The other objective was to evaluate the diagnostic accuracy of the new McDonald 2017 criteria in prediction of a second clinical attack.

Classical Imaging in Callosal Agenesis.

Corpus callosal agenesis results in certain characteristic radiological appearances on magnetic resonance imaging. These classical named signs are revisited in this article.

Two Cases of Esophageal Injury Following Anterior Cervical Discectomy and Fusion: One Overt and One Covert.

Esophageal perforation is a dreaded complication of anterior cervical spinal surgery. A 52-year-old diabetic man had undergone a surgery for a C6-C7 disc prolapse and developed spiking fever with chills and rigor on the 7th postoperative day. No cause could be found out but a CT scan of thorax done in the course of investigations revealed pneumomediastimum.

Ossified Cephalhematoma: An Unusual Cause of Calvarial Mass in Infancy.

Cephalhematomas occurring in newborn usually resolve within a month. Rarely, they tend to ossify and present as hard scalp swelling. Unless one is aware of this possibility, this condition may be misinterpreted as bony tumor and cause needless apprehension to parents as well as the treating physician.