{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:56:46Z","timestamp":1791997006866,"version":"4.4.0"},"reference-count":20,"publisher":"The Korean Movement Disorder Society","issue":"4","license":[{"start":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T00:00:00Z","timestamp":1724889600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Department of Biotechnology, Government of India","award":["BT\/PR26428\/MED\/12\/783\/2017"],"award-info":[{"award-number":["BT\/PR26428\/MED\/12\/783\/2017"]}]}],"content-domain":{"domain":["e-jmd.org"],"crossmark-restriction":true},"short-container-title":["JMD"],"published-print":{"date-parts":[[2024,10,31]]},"abstract":"<jats:p>Objective  In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix\u2013Saguenay (ARSACS).Methods  We performed a retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed the literature for reported cases of ARSACS from India.Results  All 7 patients experienced disease onset within the first decade of life. According to the available data, all patients had walking difficulty (7\/7), spastic ataxia (7\/7), classical neuroimaging findings (7\/7), sensory\u2012motor demyelinating polyneuropathy (6\/6), abnormal evoked potentials (5\/5), and a thickened retinal nerve fiber layer (3\/3). Exome sequencing revealed 8 unique pathogenic\/likely pathogenic variants (6 novel) in the SACS gene. An additional 21 cases (18 families) of ARSACS that could be identified from India had similar clinical and investigational findings. The most common c.8793delA variant may have a founder effect.Conclusion  Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.<\/jats:p>","DOI":"10.14802\/jmd.24154","type":"journal-article","created":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T01:17:00Z","timestamp":1724894220000},"page":"430-435","update-policy":"https:\/\/doi.org\/10.14802\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix\u2013Saguenay: Insights From a Case Series of Seven Patients\u2013A Single-Center Study and Review of an Indian Cohort"],"prefix":"10.14802","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-9164-2865","authenticated-orcid":true,"given":"Mit Ankur","family":"Raval","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3634-2219","authenticated-orcid":true,"given":"Vikram V","family":"Holla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7933-8826","authenticated-orcid":true,"given":"Nitish","family":"Kamble","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8565-1624","authenticated-orcid":true,"given":"Gautham","family":"Arunachal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2257-3630","authenticated-orcid":true,"given":"Babylakshmi","family":"Muthusamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5218-0264","authenticated-orcid":true,"given":"Jitender","family":"Saini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8016-9089","authenticated-orcid":true,"given":"Ravi","family":"Yadav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4085-2377","authenticated-orcid":true,"given":"Pramod Kumar","family":"Pal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5803","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1017\/s0317167100024793"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/72769"},{"key":"ref3","volume-title":""},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0131-7"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0b013e3181f4d86c"},{"key":"ref6","first-page":"138","volume-title":"Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series","author":"Prodi","year":"2013"},{"key":"ref7","first-page":"41","volume-title":"Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum","author":"Synofzik","year":"2013"},{"key":"ref8","first-page":"871","volume-title":"New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay","author":"Pilliod","year":"2015"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0159-8"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2016.10.032"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1212\/nxg.0000000000000083"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2019.03.008"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-023-02400-0"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1159\/000331319"},{"key":"ref15","first-page":"1871","volume-title":"Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients","author":"Pablo","year":"2011"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy028"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6269-5"},{"key":"ref18","first-page":"e2315","volume-title":"Assessment of sacsin turnover in patients with ARSACS: implications for molecular diagnosis and pathogenesis","author":"Longo","year":"2021"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.4103\/aian.aian_16_20"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.4103\/aomd.aomd_60_20"}],"container-title":["Journal of Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/e-jmd.org\/upload\/pdf\/jmd-24154.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-jmd.org\/journal\/view.php?doi=10.14802\/jmd.24154","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-jmd.org\/upload\/pdf\/jmd-24154.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T23:25:20Z","timestamp":1732836320000},"score":1,"resource":{"primary":{"URL":"http:\/\/e-jmd.org\/journal\/view.php?doi=10.14802\/jmd.24154"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,31]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,10]]}},"URL":"https:\/\/doi.org\/10.14802\/jmd.24154","relation":{},"ISSN":["2005-940X","2093-4939"],"issn-type":[{"value":"2005-940X","type":"print"},{"value":"2093-4939","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,31]]},"assertion":[{"value":"2024-07-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-29","order":2,"name":"published","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-31","order":3,"name":"published","label":"Print publication","group":{"name":"publication_history","label":"Publication History"}}]}}