What is cerebellar ataxia? How is it caused? And how does it affect the people who suffer from it?
“Ataxia describes poor muscle control that causes clumsy movements. It can affect walking and balance, hand coordination, speech and swallowing, and eye movements.
Ataxia usually results from damage to [or degeneration of] the part of the brain called the cerebellum or its connections. The cerebellum controls muscle coordination. Many conditions can cause ataxia, including genetic conditions, stroke, tumors, multiple sclerosis, degenerative diseases and alcohol misuse. Certain medicines also can cause ataxia.
Some types of ataxia and some conditions that cause ataxia are passed down in families. These conditions also are called hereditary. If you have one of these conditions, you may have been born with a genetic change that causes the body to make irregular proteins.
The irregular proteins affect the function of nerve cells, primarily in the cerebellum and spinal cord. They cause the nerve cells to break down and die, known as degeneration. As the disease progresses, coordination problems worsen.”
Among the ataxias caused by heredity are —
“Spinocerebellar ataxias: Researchers have identified more than 40 spinocerebellar ataxia genes, and the number continues to grow. Ataxia and cerebellar degeneration are common to all types, and there may be other symptoms.
RFC1-associated ataxia: This is the most common cause of ataxia that happens later in life. The ataxia symptoms usually occur with dizziness and numbness or tingling in the body. Sometimes this type of ataxia causes a cough.”
*For more information, see Ataxia. Mayo Clinic
Featured articles —
*Joyce, M. R., Nadkarni, P. A., Kronemer, S. I., Margron, M. J., Slapik, M. B., Morgan, O. P., Rosenthal, L. S., Onyike, C. U., & Marvel, C. L. (2022). Quality of Life Changes Following the Onset of Cerebellar Ataxia: Symptoms and Concerns Self-reported by Ataxia Patients and Informants. The Cerebellum, 21(4), 592-605. [PDF] [Cited by]
“Semi-structured interviews of patient accounts and caregiver, or informant, perspectives are a beneficial resource for patients suffering from diseases with complex symptomatology, such as cerebellar ataxia. The aim of this study was to identify, quantify, and compare the ways in which cerebellar ataxia patients’ and informants’ quality of life had changed as a result of living with ataxia. Using a semi-structured interview, responses were collected from patients and informants regarding motor, cognitive, and psychosocial variables. Responses were also collected from patients and informants to open-ended questions that were subsequently categorized into 15 quality of life themes that best represented changes experienced by the patients and informants. Ataxia patients and informants agreed as to the severity of posture/gait, daily activities/fine motor tasks, speech/feeding/swallowing, and oculomotor/vision impairment. It was also demonstrated that severity ratings for specific motor-related functions strongly correlated with corresponding functions within the International Cooperative Ataxia Rating Scale (ICARS), and that this interview identified frequency associations between motor impairments and specific psychosocial difficulties, which could be useful for prognostic purposes. Overall, the information obtained from this study characterized the symptoms and challenges to ataxia patients and their caregivers, which could serve as a useful educational resource for those affected by ataxia, clinicians, and researchers.”
*Clément, G., Puisieux, S., Pellerin, D., Brais, B., Bonnet, C., & Renaud, M. (2024). Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia. Revue Neurologique, 180(5), 410-416. [PDF] [Cited by]
“Genetic cerebellar ataxias are still a diagnostic challenge, and yet not all of them have been identified. Very recently, in early 2023, a new cause of late-onset cerebellar ataxia (LOCA) was identified, spinocerebellar ataxia 27B (SCA27B). This is an autosomal dominant ataxia due to a GAA expansion in intron 1 of the FGF14 gene. Thanks to the many studies carried out since its discovery, it is now possible to define the clinical phenotype, its particularities, and the progression of SCA27B. It has also been established that it is one of the most frequent causes of LOCA. The core phenotype of the disease consists of slowly progressive late-onset ataxia with cerebellar syndrome, oculomotor disorders including downbeat nystagmus, and episodic symptoms such as diplopia. Therapeutic approaches have been proposed, including acetazolamide, and 4-aminopyridine, the latter with a better benefit/tolerance profile.”
Questions? Please let me know (engelk@grinnell.edu).
