From the Guidelines
Recent advances in ataxia research and treatment have focused on improved genetic testing, targeted therapies, and rehabilitation approaches, with next-generation sequencing allowing identification of over 100 genetic causes of ataxia, enabling more precise diagnosis and personalized treatment planning. For specific ataxias, several promising treatments have emerged: Spinocerebellar ataxia type 3 patients may benefit from riluzole (100mg daily), which has shown modest improvement in symptoms in clinical trials 1. Friedreich's ataxia patients are seeing hope with omaveloxolone (150mg daily), which received FDA approval in 2023 for slowing disease progression by improving mitochondrial function. For episodic ataxias, acetazolamide (250-1000mg daily) remains effective, while 4-aminopyridine (5-10mg twice daily) has shown benefit for downbeat nystagmus and some cerebellar ataxias by improving neuronal conduction.
Some key points to consider in the management of ataxia include:
- The importance of early recognition and treatment of conditions like gluten ataxia and anti-GAD antibody ataxia with immunotherapies including IVIG, steroids, and rituximab in selected cases 1
- The use of intensive rehabilitation protocols combining physical therapy, occupational therapy, and speech therapy, which have demonstrated improved functional outcomes when delivered in concentrated 2-4 week programs 1
- The investigation of neuromodulation techniques using transcranial magnetic stimulation and non-invasive brain stimulation as adjunctive treatments
- The role of imaging in the assessment of ataxia, with MRI being the preferred modality for initial assessment, particularly for the detection of parenchymal injury and abnormalities in the cerebellum and brainstem 1
Overall, the management of ataxia requires a multidisciplinary approach, incorporating genetic testing, targeted therapies, rehabilitation, and imaging, with the goal of improving functional outcomes and quality of life for patients with this complex and heterogeneous group of disorders.
From the Research
Recent Advances in Ataxia
- Ataxia is a manifestation of various disease processes, and an underlying etiology needs to be investigated 2.
- Recent studies have focused on the treatment of ataxia, including idebenone treatment in patients with Friedreich's ataxia 3.
- Idebenone treatment at early stages of the disease seems to reduce the progression of cerebellar manifestations 3.
- Other studies have explored the use of symptomatic, physical, and occupational therapies, as well as individualized exercises, for the treatment of cerebellar ataxias 4.
Treatment Options for Ataxia
- A study on the treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes found that there is insufficient and low or very low quality evidence to determine the effectiveness of any treatment 5.
- The study found that five studies reported statistically significant improvement on an overall disease rating scale, but only three provided specific data on speech performance 5.
- Another study discussed novel therapeutic approaches, including cerebellar non-invasive stimulation and treatments acting on RNA/proteins 4.
- Speech and language disorders are prominent signs in Friedreich ataxia, and assessment relies on multiple but not specific clinical scales 6.
Future Directions
- Further research is needed to fully assess the therapeutic potential of idebenone in Friedreich's ataxia 3.
- Emerging genetic tests are becoming increasingly available for hereditary ataxia, but they cannot replace conventional diagnostic procedures in most patients with ataxia 2.
- Clinicians who evaluate patients with ataxia should be familiar with the disease spectrum that can present with ataxia, and proper diagnostic tests can be designed to confirm the clinical working diagnosis 2.