]> http://JNNPR.edwiserinternational.com/rss-feed.php Edwiser-Journal-of-Neurology-Neurosurgery-Psychiatry-Research: VOLUME Volume 5 ISSUE Issue 1, Jan-Dec 2023 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 28-Sep-2023 http://JNNPR.edwiserinternational.com/admin/uploads/CxPwaN.pdf Sanjiv-Chamraj-and-Sharan-Srinivasan {http://www.edwiserinternational.com/contact-us.php} Medical Science,Clinical Science {T, p.Arg1917Ser (chr11:108307973A>T) in ATM gene responsible for familial A-T with cervical dystonia without chorea as hall mark clinical manifestations. In conclusion, to the best of our literature knowledge this is the rare and unusual case from India wherein we are reporting a novel homozygous missense variant c.5751A>T, p.Arg1917Ser (chr11:108307973A>T) in ATM gene responsible for familial A-T with cervical dystonia rather than ataxia as hall mark clinical manifestations affecting both brother and sister in the same family. Thus, early onset of cervical dystonia should be taken into account as a key characteristic of variant A-T, which can manifest without general ataxia and may cause adults with primary dystonia to receive an incorrect diagnosis.]]>} 17-Oct-2023 http://JNNPR.edwiserinternational.com/admin/uploads/8hBMIj.pdf Sara-Zarei-Khatchadourian-C-Bonakdar-B-et-al- {http://www.edwiserinternational.com/contact-us.php} Medical Science,Clinical Science {} 11-Nov-2023 http://JNNPR.edwiserinternational.com/admin/uploads/BSEsM4.pdf Sanjiv-Chamraj-and-Sharan-Srinivasan {http://www.edwiserinternational.com/contact-us.php} Medical Science,Clinical Science {}