Treatable Ataxias: How to Find the Needle in the Haystack?

Abstract

Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular causes, toxins and chemicals, and endocrinopathies. This review provides a comprehensive overview of different treatable ataxias. The major metabolic and genetic treatable ataxic disorders include ataxia with vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, autosomal recessive cerebellar ataxia due to coenzyme Q10 deficiency, glucose transporter type 1 deficiency, and episodic ataxia type 2. The treatment of these disorders includes the replacement of deficient cofactors and vitamins, dietary modifications, and other specific treatments. Treatable ataxias with immune-mediated etiologies include gluten ataxia, anti-glutamic acid decarboxylase antibody-associated ataxia, steroid-responsive encephalopathy associated with autoimmune thyroiditis, Miller-Fisher syndrome, multiple sclerosis, and paraneoplastic cerebellar degeneration. Although dietary modification with a gluten-free diet is adequate in gluten ataxia, other autoimmune ataxias are managed by short-course steroids, plasma exchange, or immunomodulation. For autoimmune ataxias secondary to malignancy, treatment of tumor can reduce ataxic symptoms. Chronic alcohol consumption, antiepileptics, anticancer drugs, exposure to insecticides, heavy metals, and recreational drugs are potentially avoidable and treatable causes of ataxia. Infective and parainfectious causes of cerebellar ataxias include acute cerebellitis, postinfectious ataxia, Whipple’s disease, meningoencephalitis, and progressive multifocal leukoencephalopathy. These disorders are treated with steroids and antibiotics. Recognizing treatable disorders is of paramount importance when dealing with ataxias given that early treatment can prevent permanent neurological sequelae.

A Comprehensive Review of Secondary Movement Disorders

“…Post-infectious cerebellitis is another condition that can lead to movement abnormalities following an infection [75], characterized by inflammation in the cerebellum, a brain region involved in coordination and balance. Post-infectious cerebellitis can lead to symptoms such as ataxia, tremor, and dysarthria [76], like in cases of herpes zoster infection [77] or even in cases of neurosyphilis. Neurosyphilis was already reported presenting with status epilepticus [78] and parkinsonism [79].…”

Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India

“…Ataxia with vitamin E deficiency (AVED) is a rare potentially treatable autosomal recessive disorder. [1][2][3] AVED is caused by a biallelic mutation in the TTPA gene, which encodes the alphatocopherol transfer protein (αTTP). αTTP is involved in transporting vitamin E out of the liver into tissues through its incorporation into very-low-density lipoprotein.…”