title: Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed.
abstract: 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.
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo (UNIFESP), São Paulo SP, Brazil. jlpedroso.neuro@gmail.com
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.forename: Pedro
authors.initials: P
authors.lastname: Braga-Neto
authors.forename: Irapuá Ferreira
authors.initials: IF
authors.lastname: Ricarte
authors.forename: Marcus Vinicius Cristino
authors.initials: MV
authors.lastname: Albuquerque
authors.forename: Orlando Graziani Povoas
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000328:Adult; D017668:Age of Onset; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012026:Reflex, Stretch / Q000235:genetics; D012189:Retrospective Studies; D012720:Severity of Illness Index; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome; D055815:Young Adult