]> http://JNNPR.edwiserinternational.com/rss-feed.php Edwiser-Journal-of-Neurology-Neurosurgery-Psychiatry-Research: VOLUME Volume 6 ISSUE Issue 1, Jan-June 2025 en-us editor@edwiserinternational.com editor@edwiserinternational.com editor@edwiserinternational.com http://JNNPR.edwiserinternational.com/rss-feed.php http://JNNPR.edwiserinternational.com/img/logo1.png 360 109 08-Mar-2025 http://JNNPR.edwiserinternational.com/admin/uploads/sQVFYy.pdf Sanjiv-Chamraj-and-Sharan-Srinivasan {http://www.edwiserinternational.com/contact-us.php} Medical Science,Clinical Science {T p.(Glu411Asp) detected in the XPR1 gene on chromosomal position Chr1:180834972:A>T. This variant has been located in exon 10 of the transcript NM_004736 and it leads to change in amino acid from Glutamic acid to Aspartic acid at codon 411. The detected XPR1 gene variant c.1233A>T p.(Glu411Asp) in our case of 54-year old male has not been reported in the previously published literature. In conclusion, detected novel XPR1 gene variant c.1233A>T p.(Glu411Asp) in the chromosomal position Chr1:180834972:A>T led to change in amino acid from Glutamic acid to Aspartic acid at codon 411, and caused to idiopathic basal ganglia calcification in a 54-year old male presented with left predominant parkinsonism clinical conditions.Supplementary video Link: https://shorturl.at/y0o2D]]>} 04-Nov-2025 http://JNNPR.edwiserinternational.com/admin/uploads/maV8XP.pdf Sanjiv-Chamraj-and-Sharan-Srinivasan {http://www.edwiserinternational.com/contact-us.php} Medical Science,Clinical Science {C; p.Cys69Ser, detected in the STUB1 gene on chromosomal position chr16:681198:G>C. This variant is noted to have a total depth of 74X. It is located in exon 2 of the transcript NM_005861.4 and it leads to a change in amino acid from Cysteine to Serine at codon 69. The detected STUB1 gene c.206G>C; p.Cys69Ser, variant in our case of 50-year-old female has not been previously reported among Indian population. In conclusion, we reported the unusual, uncommon case of SCA48 caused due to a novel de novo STUB1 gene variant c.206G>C; p.Cys69Ser, in the chromosomal position chr16:681198:G>C led to a change in amino acid from Cysteine to Serine at codon 69 in 50-year-old female patient from southern India presented with clinical conditions such as subacute ataxia with broad-based gait, mild incoordination of limbs, and mild dysarthria.]]>}