Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To estimate vestibulo-collic reflexes in patients with spinocerebellar degeneration (SCD), vestibular evoked myogenic potentials (VEMPs) were recorded in 16 patients with SCD and in 9 normal subjects. The patients with SCD were classified into three groups: those with olivo-ponto-cerebellar ataxia (OPCA; n = 10); those with cortical cerebellar atrophy (CCA; n = 3); and those with Machado-Joseph disease (MJD; n = 3). While all of the patients with OPCA and CCA showed biphasic responses (p13-n23), 2 of the 3 patients with MJD showed abnormal VEMPs bilaterally. Three sides in these 2 patients showed an absence of VEMPs, and one side showed a remarkably delayed p13. These two patients showed little response in caloric tests. These results suggest that the vestibulo-collic reflex as well as the vestibulo-ocular reflex could be damaged in MJD patients but preserved in OPCA and CCA patients.
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PMID:Vestibular evoked myogenic potentials in patients with spinocerebellar degeneration. 1113 14

Marie et al. (1922) first proposed a disease entity "late cortical cerebellar atrophy (LCCA)", which is characterized neuropathologically by pure cerebello-olivary degeneration. LCCA was originally described as sporadic, late-onset, pure cerebellar ataxia of unknown etiology; however, it has occasionally been used to denote familial or secondary ataxias, particularly alcoholic cerebellar degeneration. Sporadic ataxia is classified mainly into LCCA or CCA and olivo-ponto-cerebellar atrophy (OPCA) in Japan. OPCA, now multiple system atrophy with predominant cerebellar ataxia, has characteristic brain imaging features and is clearly diagnosed based on the consensus criteria. On the other hand, there is no specific biomarker for LCCA/CCA, and neuropathological examination is required for a definitive diagnosis. Therefore, the clinical diagnosis of LCCA/CCA depends on the exclusion of other diseases manifesting as cerebellar ataxia. However the differential diagnosis for LCCA/CCA is not necessarily made carefully. As a result, the LCCA/CCA category in Japan is a "waste basket," including OPCA, hereditary ataxias, and secondary ataxias, which are unidentified yet. To refine the LCCA/CCA category, we proposed the clinically-defined term "idiopathic cerebellar ataxia (IDCA)" and established its diagnostic criteria. By nationwide screening, we have identified 51 patients with probable IDCA according to the criteria so far. Here we review the clinical characteristics of IDCA patients.
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PMID:[Cortical Cerebellar Atrophy and Idiopathic Cerebellar Ataxia: Nomenclature and Diagnostic Approach]. 3293 81