Objective: Our aim is to compare the electrophysiological features of FRDA and AVED in order to identify distinctive characteristics of both diseases.

Background: Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous, complex and rare group of neurological disorders affecting the cerebellum and/or spinocerebellar tract. Friedreich’s ataxia (FRDA) and ataxia with vitamin E deficiency (AVED) are the two most common types of ACAR in Tunisia and North Africa. These two diseases present multiple clinical similarities, making it difficult to distinguish between them. Electrophysiological studies could be helpful to guide the diagnosis

Method: This is a retrospective, descriptive and analytical study conducted in the neurology department of the Mongi Ben Hmida National Institute of Neurology in Tunis over a 41-year period between 1982 and 2023. We collected epidemiological, clinical, and paraclinical data from our patients with FRDA and genetically confirmed AVED. Particularly, electrophysiological studies including electromyogram (EMG), visual evoked potentials (VEP) and auditive evoked potentials (AEP) were assessed and analyzed. Eventually, different results were compared.

Results: We included 51 patients with FRDA and 41 patients with AVED. The mean age of onset was 16 ± 6.37 years in the FRDA group and 12.76 ± 4.96 years in the AVED group. Clinically, motor deficit, amyotrophy and superficial sensitivity disorders were more frequent in the FRDA group (p<0.001, p<0.001 and p<0.001 respectively). EMG abnormalities were significantly more frequent in the FRDA group (97.3% vs. 24.2%; p<0.001) as 73% of FRDA patients had sensory axonal neuropathy and 24% had a sensory-motor axonal neuropathy while most of AVED patients had normal EMG (76%).

Regarding VEP, 69% of FRDA patients had an optic neuropathy mainly with demyelinating features (68%). However, 59% of AVED patients presented with abnormal VEP with 87% having axonal optic neuropathy (p<0.001). As for AEP, deafness was detected in 25% of explored FRDA patients and none in AVED patients.

Conclusion: There are few comparative studies of these two diseases in the literature. Our study has enabled us to identify distinctive electrophysiological features between FRDA and AVED, which could help in the diagnostic process.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/friedreich-ataxia-versus-ataxia-with-vitamin-e-deficiency-a-comparative-study-of-electrophysiological-features/