Publications by authors named "Mathuranath Ps"
Background And Objectives: Dizziness is a frequent complaint encountered in neurology clinics. Dizziness can be spontaneous or triggered, which includes orthostatic dizziness. Orthostatic dizziness can be acute (reflex/vasovagal syncope), chronic (orthostatic hypotension (OH), or postural orthostatic tachycardia syndrome (POTS).
View Article and Find Full Text PDFCollagen XII, a member of a protein family called fibril associated collagen with interrupted triple helices (FACIT), is an important component of extracellular matrix and is essential for bridging the neighbouring fibrils. Mutations in collagen XII have been recently described to cause a rare extracellular matrix-related myopathy in those whose phenotype resembles collagen VI-related dystrophies and were negative for pathogenic variants in COL6A genes. The authors report a 4-year old girl presented with a phenotype mimicking Ullrich congenital muscular dystrophy and genetically confirmed to have pathogenic variants in COL12A1 gene thus, expanding the phenotypic spectrum of COL12A1-related myopathy.
View Article and Find Full Text PDFEpisodic ataxia in child with 16p11.2 deletion including PRRT2.
Parkinsonism Relat Disord
January 2024
Article Synopsis
- The Kerala Einstein Study (KES) is a research project aimed at understanding the early stages of cognitive decline, specifically the motoric cognitive risk syndrome (MCR), in older adults living in Kerala, India.
- Initiated in 2008, the study plans to enroll 1,000 individuals aged 60 and above to identify risk factors related to MCR and compare profiles between urban and rural populations.
- The research includes comprehensive assessments of cognitive and physical functions, medical backgrounds, lifestyle habits, and imaging tests to gather data on the prevalence and implications of predementia syndromes like MCR in the aging population of Kerala.
Pediatric neurobrucellosis represents a common anthropozoonosis in endemic areas but only anecdotal reports are available till date. Using appropriate search terms in the database platforms of MEDLINE, SCOPUS and Web of Sciences, we performed a systematic review of all the cases of pediatric neurobrucellosis published in the medical literature till date, in the light of a case report. The protocol was registered under PROSPERO (CRD42022333907).
View Article and Find Full Text PDFAims: To study the latency, amplitude, and source localization of magnetic evoked field (MEF) responses to visual, auditory, and somatosensory stimuli in Wilson's disease (WD) using magnetoencephalography (MEG) and compare it with "healthy" controls, and correlate the observations with disease severity and brain MRI.
Methods: MEF of 28 patients with neurological WD (age: 22.82 ± 5.
Objectives: The objective of this study is to describe the clinical, biochemical, radiological, and genetic profile of patients presenting with progressive spastic paraparesis due to homocysteine remethylation pathway defect.
Methods: This was a retrospective study conducted by reviewing the medical records of patients with serum homocysteine levels >50 μmol/L between January 2015 and January 2019 at our hospital. We included patients presenting with progressive spastic paraparesis, having serum homocysteine >50 μmol/L with low or normal blood methionine suggesting disorders of homocysteine remethylation.
Background: Disorders of tetrahydrobiopterin metabolism represent a rare group of inherited neurotransmitter disorders that manifests mainly in infancy or childhood with developmental delay, neuroregression, epilepsy, movement disorders, and autonomic symptoms.
Methodology: A retrospective review of genetically confirmed cases of disorders of tetrahydrobiopterin metabolism over a period of three years (Jan 2018 to Jan 2021) was performed across two paediatric neurology centres from South India.
Results: A total of nine patients(M:F=4:5) fulfilled the eligibility criteria.