Objective: we aimed to investigate the clinical features of Ataxia with vitamin E deficiency (AVED) patients and compare it with Friedreich ataxia (FRDA) patients.

Background: AVED is a rare autosomal recessive neurodegenerative disorder, characterized by ataxia, areflexia and proprioceptive sensory loss. However, these clinical symptoms are sometimes confusing and often resemble to those of FRDA. Lately, few reports described the presence of cervical dystonia in AVED.

Method: this is a prospective comparative study performed in the national institute of neurology Mongi Ben Hmida in Tunisia between 2017 and 2018, including 30 patients having a genetically confirmed AVED and 30 patients with FRDA. We assessed clinical features and follow-up in both groups. Eventually, different results were compared.

Results: the disease onset was significantly earlier in AVED patients (14.16 ±6.15 vs 17.3 ±7.09, p=0.024) without gender difference. Gait disorders revealed the disease in both groups (93% in AVED versus 87% in FRDA). The clinical phenotype was quite similar, as patients developed cerebellar ataxia (100%), vibratory sensory loss (60%vs64%, p=0.791), areflexia (83%vs87%, p=0.601) and Babinski sign (67%vs87%, p=0.67). Nevertheless, some differences were noted as FRDA patients had more amyotrophy (0%vs47%, p=0.000) and AVED patients developed more frequently head tremor (70%vs7%, p=0.000) and cervical dystonia (84%vs0%, p=0.000). Compared to AVED, the clinical phenotype is more severe in FRDA (SARA score=25. vs13.6, p=0.000) and patient become bedridden (47%vs7%, p=0.000).

Conclusion: An early detection of specific features of AVED like the cervical dystonic tremor is crucial to ensure early diagnosis, recovery and halt the progression of the disease.

« Back to 2023 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/cervical-dystonic-tremor-a-characteristic-feature-of-ataxia-with-vitamin-e-deficiency/