{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T10:42:11Z","timestamp":1761561731570,"version":"3.44.0"},"reference-count":27,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2013,1,28]]},"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:p>Although neurologists are frequently faced with the management of rare diseases, there is little generic guidance for the approach to management. There are complexities with respect to diagnosis, counselling, treatment and monitoring which are idiosyncratic to rare diseases. Here we use a case report as the basis for discussion of the management of rare neurological diseases. We discuss current issues, guidance from regulatory bodies, and offer practical tips for diagnosis, treatment and monitoring, including the use of decision tree analysis. We offer a generic algorithm to aid neurologists when facing rare conditions.<\/jats:p>","DOI":"10.1136\/practneurol-2012-000379","type":"journal-article","created":{"date-parts":[[2013,3,13]],"date-time":"2013-03-13T23:28:16Z","timestamp":1363217296000},"page":"219-227","source":"Crossref","is-referenced-by-count":8,"title":["Rare neurological diseases: a practical approach to management"],"prefix":"10.1136","volume":"13","author":[{"given":"Krishna A","family":"Dani","sequence":"first","affiliation":[{"name":"Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lesley J","family":"Murray","sequence":"additional","affiliation":[{"name":"Pharmacy and Prescribing Support Unit, Southern General Hospital, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saif","family":"Razvi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,3,13]]},"reference":[{"key":"2025090409231436000_13.4.219.1","first-page":"8","article-title":"The Addenbrooke's Cognitive Examination Revised (ACE-R): a brief cognitive test battery for dementia screening","volume":"21","author":"Mioshi","year":"2006","journal-title":"Int J Geriatr"},{"key":"2025090409231436000_13.4.219.2","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1046\/j.1474-7766.2002.00307.x","article-title":"Superficial siderosis of the central nervous system","volume":"2","author":"Fearnley","year":"2002","journal-title":"Pract Neurol"},{"key":"2025090409231436000_13.4.219.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2011.07.002"},{"key":"2025090409231436000_13.4.219.4","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.111.628032"},{"key":"2025090409231436000_13.4.219.5","unstructured":"European Agency for the Evaluation of Medicinal Products (EMEA). 2007. http:\/\/www.emea.europa.eu\/docs\/en_GB\/document_library\/Other\/2010\/01\/WC500069805.pdf (accessed 27 Jul 2012)."},{"key":"2025090409231436000_13.4.219.6","unstructured":"Overview of the current Centres of Reference on rare diseases. 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