Publications by authors named "Fahrer P"
Background: Despite recent progress in the field of genetics, sporadic late-onset (> 40 years) cerebellar ataxia (SLOCA) etiology remains frequently elusive, while the optimal diagnostic workup still needs to be determined. We aimed to comprehensively describe the causes of SLOCA and to discuss the relevance of the investigations.
Methods: We included 205 consecutive patients with SLOCA seen in our referral center.
Article Synopsis
- CANVAS is a genetic condition that affects balance and coordination, caused by changes in a specific gene called RFC1.
- Researchers studied 163 patients in France with different types of ataxia and found that 15 had the CANVAS condition, but only in the group with late-onset ataxia.
- The study suggests that doctors should check for the RFC1 gene changes mostly in patients with unexplained late-onset ataxia and nerve issues, not so much in those suspected of having a different condition called MSA-C.
Introduction: Despite the consensus criteria for multiple system atrophy (MSA), the diagnosis of MSA of cerebellar type (MSA-C) may be difficult in the early stage of the disease. There are several differential diagnoses including idiopathic late-onset cerebellar ataxias (ILOCA) and it is often necessary to wait for clinical worsening so that the criteria can be met. Our aim was to assess the efficacy of clonidine growth hormone test (CGH test) to distinguish MSA-C from ILOCA in the early stage of the disease.
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