{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:27:55Z","timestamp":1760984875220},"reference-count":17,"publisher":"FapUNIFESP (SciELO)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:p>Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes.<\/jats:p>","DOI":"10.1590\/0004-282x20130036","type":"journal-article","created":{"date-parts":[[2013,8,14]],"date-time":"2013-08-14T16:27:05Z","timestamp":1376497625000},"page":"345-348","source":"Crossref","is-referenced-by-count":4,"title":["Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed"],"prefix":"10.1590","volume":"71","author":[{"given":"Jose Luiz","family":"Pedroso","sequence":"first","affiliation":[{"name":"Universidade Federal de Sao Paulo (UNIFESP),  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Braga-Neto","sequence":"additional","affiliation":[{"name":"Universidade Federal de Sao Paulo (UNIFESP),  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irapua Ferreira","family":"Ricarte","sequence":"additional","affiliation":[{"name":"Universidade Federal de Sao Paulo (UNIFESP),  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcus Vinicius Cristino","family":"Albuquerque","sequence":"additional","affiliation":[{"name":"Universidade Federal de Sao Paulo (UNIFESP),  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orlando Graziani Povoas","family":"Barsottini","sequence":"additional","affiliation":[{"name":"Universidade Federal de Sao Paulo (UNIFESP),  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1590\/S0004-282X2009000600036","article-title":"Autosomal recessive ataxias: 20 types, and counting","volume":"67","author":"Embiru\u00e7u EK","year":"2009","journal-title":"Arq Neuropsiquiatr"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1136\/jnnp.44.6.503","article-title":"Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia","volume":"44","author":"Harding AE","year":"1981","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/brain\/104.3.589","article-title":"Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features","volume":"104","author":"Harding AE","year":"1981","journal-title":"Brain"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1056\/NEJM199610173351601","article-title":"Clinical and genetic abnormalities in patients with Friedreich's ataxia","volume":"335","author":"Durr A","year":"1996","journal-title":"N Engl J Med"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1007\/s10072-006-0617-8","article-title":"Friedreich's ataxia: clinical heterogeneity in two sisters","volume":"27","author":"Armani M","year":"2006","journal-title":"Neurol Sci"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1750-1172-1-47","article-title":"Autosomal recessive cerebellar ataxias","volume":"1","author":"Palau F","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1093\/brain\/120.12.2131","article-title":"Friedreich's ataxia. 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