Objective: Objective: To describe a case report of an atypical phenotype of ataxia with vitamin E deficiency (AVED) and marked cervical dystonia.

Background: Background: AVED is a rare autosomal recessive disorder that usually presents with ataxia. Dystonia has been rarely reported on the literature.

Method: Methods: A case report of a patient with a homozygous TTPA gene mutation presenting with marked cervical dystonia and severe ataxia.

Results: Results: A nine-year-old female presented with jerky involuntary cervical movements. She also described recurrent falls and gait impairment. On examination, she had a cervical jerky tremor, with left laterocolis and left shoulder upper deviation (figure 1). Hypotonia, absent reflexes, severe dysmetria and a marked loss of joint position and vibration sense were also verified. She had an ataxic wide-based gait. The patient`s first contact with a neurologist occurred at age fourteen. She went through a long investigation process with normal brain magnetic resonance image (MRI). Her laboratorial exams demonstrated consistent low levels of vitamin E: 1,1 μg/mL (normal range: 6-10 μg/mL). Genetic testing revealed a TTPA gene homozygous mutation (TTPA p.Thr172Leufs) and it confirmed AVED diagnosis. By this time, the patient had fourteen years old and severe unsteadiness during ambulation. After that, she started vitamin E supplementation (4.000 mg/day). Her SARA score is stable ever since (18 points). Cervical dystonia remained worsening despite vitamin E supplementation. Therefore, botulinum toxin applications were tried with further symptomatic improvement.

Conclusion: Conclusions: Dystonia can be a predominant feature and can even precede the ataxic symptoms onset in AVED patients¹.  Without treatment, most patients become wheelchair bound within 5 to 20 years of disease. Therefore, a prompt and early diagnosis of AVED is necessary for halting disease progress. High-dose vitamin E supplementation may provide, in some cases, clinical improvement, especially in patients with shorter disease duration. An accurate molecular diagnosis in ataxia with vitamin E deficiency is also important for prognosis and response prediction to treatment². Dystonia rate of response to specific treatments in AVED patients is variable³.  As AVED is a treatable disorder it should be considered in the differential diagnosis of patients with progressive dystonia, particularly with cervical distribution and childhood onset.

References: 1. Becker, A. E., Vargas, W. & Pearson, T. S. Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. Tremor Hyperkinetic Mov. 6, 374 (2016).
2. Pradeep, S., Ali, T. & Guduru, Z. Ataxia with Vitamin E Deficiency with Predominant Cervical Dystonia. Mov. Disord. Clin. Pract. 7, 100–103 (2020).
3. Gupta, H., Swank, S. & Sharma, V. Vitamin E deficiency: An under-recognized cause of dystonia and ataxia syndrome. Ann. Indian Acad. Neurol. 0, 0 (2020).

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MDS Abstracts - https://www.mdsabstracts.org/abstract/pronounced-cervical-dystonia-in-ataxia-with-vitamin-e-deficiency/