Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed
Autor: | Pedro Braga-Neto, Marcus Vinicius Cristino de Albuquerque, Irapuá Ferreira Ricarte, Orlando Graziani Povoas Barsottini, José Luiz Pedroso |
---|---|
Jazyk: | angličtina |
Rok vydání: | 2013 |
Předmět: |
Adult
Male Reflex Stretch Pathology medicine.medical_specialty Weakness congenital hereditary and neonatal diseases and abnormalities Ataxia ataxias ataxia cerebelar de inicio precoce com reflexos mantidos early onset cerebellar ataxia with retained tendon reflexes Severity of Illness Index lcsh:RC321-571 Dysarthria Young Adult medicine Humans Age of Onset ataxia cerebelar autossomica recessiva lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Retrospective Studies Spinocerebellar Degenerations EOCA Anatomy Syndrome Middle Aged Magnetic Resonance Imaging Tendon medicine.anatomical_structure Neurology Reflex Cerebellar atrophy Female Neurology (clinical) medicine.symptom Age of onset Psychology autosomal recessive cerebellar ataxias |
Zdroj: | Arquivos de Neuro-Psiquiatria v.71 n.6 2013 Arquivos de neuro-psiquiatria Academia Brasileira de Neurologia instacron:ABNEURO Arquivos de Neuro-Psiquiatria, Vol 71, Iss 6, Pp 345-348 (2013) |
Popis: | 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. |
Databáze: | OpenAIRE |
Externí odkaz: |
načítá se...