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.
Methods
Clinical and demographic data of CIS cohorts were collected. Baseline
investigations included cerebrospinal magnetic resonance imaging (MRI) with
contrast and cerebrospinal fluid (CSF) testing for oligoclonal band (OCB).
Follow-up clinical and MRI examinations were performed annually for at least
24 months.
Results
Of the 82 subjects (age range 15–58 years), 36 (43.9%) converted to MS; 31/82
(37.8%) converted in 24 months. The predictors for conversion were earlier
age of onset, CSF-OCB, cerebral MRI T2 lesion count, and periventricular and
juxtacortical location of lesions. Twenty-two (26.83%) CIS fulfilled the
McDonald MS 2017 criteria at baseline.
Conclusion
In this first prospective study of CIS in India, the risk factors for
conversion are similar but the conversion rate to MS is lower than that in
the western nations.
Parkinson's disease (PD) is a neurodegenerative disease with the absence of markers for diagnosis. Several studies on PD reported the elements imbalance in biofluids as biomarkers. However, their results remained inconclusive. This study integrates metallomics, multivariate and artificial neural network (ANN) to understand element variations in CSF and serum of PD patients from the largest cohort of Indian population to solve the inconsistent results of previous studies. Also, this study is aimed to (1) ascertain a common element signature between CSF and serum. (2) Assess cross sectional element variation with clinical symptoms. (3) Develop ANN models for rapid diagnosis. A metallomic profile of 110 CSF and 530 serum samples showed significant variations in 10 elements of CSF and six in serum of patients compared to controls. Consistent variations in elements pattern were noticed for Calcium, Magnesium and Iron in both the fluids of PD, which provides feasible diagnosis from serum. Furthermore, implementing multivariate analyses showed clear classification between normal and PD in both the fluids. Also, ANN provides 99% accuracy in detection of disease from CSF and serum. Overall, our analyses demonstrate that elements profile in biofluids of PD will be useful in development of diagnostic markers for PD.
Little information is available regarding the molecular pathogenesis of Parkinson's disease (PD) among the Bengalee population in West Bengal, India. This study was undertaken to determine the contribution of Parkin variants in well-defined ethnically identical Bengalee population of India and further to describe the clinical spectrum associated with these mutations. A total of 150 unrelated PD patients and 150 controls were recruited for the study. The entire cohort was screened for mutations in all the 12 exons of the gene along with flanking splice junctions by polymerase chain reaction and DNA sequencing. Eleven nucleotide variants including two novel changes were detected. Cerebrospinal fluid (CSF) parkin protein expression of the novel mutation, Val186Ile (found in heterozygous condition in one patient only) was almost 2.7 folds lower than the controls and other PD patients. Molecular characterization of polymorphisms Ser167Asn and Val380Leu depicted that homozygous Ser167 and Val380 are significantly associated with the disease. We did not find any linkage disequilibrium among the SNPs, the low r(2) for every pair of single-nucleotide polymorphisms (SNPs) indicated that these SNPs cannot be tagged by each other. Another novel intronic change, IVS8+48C>T was present in almost equally in PD patients and controls. Among the ethnically defined Bengalee population of West Bengal, occurrence of Parkin mutation is 4% (6/150) of the PD patient pool supported with decreased folds of expression of CSF PARKIN protein. Parkin polymorphisms, Ser167 and Val380 are risk factors for the progression of the disease, and their frequency is greatly influenced by ethnic origin.
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