Life of patients with cerebellar ataxia: A systematic review

Objectives: Conduct a literature search for scientific tests concerning treatment combined with well-being in cerebellar ataxias using electronic data sources. Methods: A search was conducted organized by scientific tests worried about the treatment allied to well-being in cerebellar ataxias using the electronic data sources PubMed, Medline, Embase, Cinahl and Pedro, and listings of recommendations of articles, from 1980 to December 2011, including in English and Dutch. Results: Information suggests that physical treatment, when included in occupational treatment, may improve international practical reputation, just as treatment at work alone may decrease signs of anxiety (grade 3). Conclusion: We have found some care for performing physical and work treatment, but other studies are necessary to create medical technique suggestions.

Treatable Ataxia: a comprehensive case series study

Autosomal recessive cerebellar ataxias are a group of heterogeneous early-onset progressive disorders that some of them are treatable. We performed 4-year-follow up for 25 patients that considered as treatable ataxia in the literature. According to our study, patients would benefit from early detection of treatable ataxia, close observation, and follow-up.

Effects of Anodal Cerebellar Transcranial Direct Current Stimulation on Movements in Patients with Cerebellar Ataxias: A Systematic Review

Cerebellar transcranial direct current stimulation (cerebellar tDCS) is a promising therapy for cerebellar ataxias and has attracted increasing attention from researchers and clinicians. A timely systematic review focusing on randomized sham-controlled trials and repeated measures studies is warranted. This study was to systematically review existing evidence regarding effects of anodal cerebellar tDCS on movements in patients with cerebellar ataxias. The searched databases included Web of Science, MEDLINE, PsycINFO, CINAHL, EMBASE, Cochrane Library, and EBSCOhost. Methodological quality of the selected studies was assessed using the Physiotherapy Evidence Database scale. Five studies with 86 patients were identified. Among these, four studies showed positive effects of anodal cerebellar tDCS. Specifically, anodal cerebellar tDCS decreased disease severity and improved finger dexterity and quality of life in patients, but showed incongruent effects on gait control and balance, which may be due to heterogeneity of research participants and choices of measures. The protocols of anodal cerebellar tDCS that improved movements in patients commonly placed the anode over the whole cerebellum and provided ten 2-mA 20-min stimulation sessions. The results may show preliminary evidence that anodal cerebellar tDCS is beneficial to reducing disease severity and improving finger dexterity and quality of life in patients, which lays the groundwork for future studies further examining responses in the cerebello-thalamo-cortical pathway. An increase in sample size, the use of homogeneous patient groups, exploration of the optimal stimulation protocol, and investigation of detailed neural mechanisms are clearly needed in future studies.

Identification of the Prodromal Symptoms and Pre-Ataxic Stage in Cerebellar Disorders: The Next Challenge

Cerebellar ataxias (CAs) manifest with a combination of motor incoordination, cognitive, affective and recently identified social symptoms. Novel therapies aim to stop the progression of the subgroup of the degenerative ataxias, or even to cure the disease with a functional and anatomical restoration of the cerebellar circuitry in the near future. The goal of stopping the progression of the disease is particularly relevant if applied at a very early stage of the disease, when the cerebellar reserve is only slightly impaired. Therefore, the search of the prodromal phase or pre-ataxic stage of CAs represents a very important challenge for the scientific community. The identification of pre-manifest individuals and the recruitment of individuals at risk has become a key-challenge to address neuroprotective therapies. The feasibility is high due to the recent progress in the biological and morphological biomarkers of CAs.

Neuroimaging of Pediatric Cerebellum in Inherited Neurodegenerative Diseases

In the study of cerebellar degenerative diseases, morphologic imaging (computed tomography, CT and magnetic resonance imaging, MRI) is the most common examination. From the clinical and genetic point of view, cerebellar degenerative diseases include heterogeneous conditions in which MRI may show isolated cerebellar atrophy or cerebellar atrophy associated with other cerebellar or supratentorial abnormalities. Neuroradiological progression is often observed. In congenital disorders of glycosylation (CDG), for example, MRI may be normal, may demonstrate mild cerebellar atrophy or, in the advanced stages of the disease, marked atrophy of the cerebellar hemispheres and vermis associated with the abnormal signal intensity of the cerebellar cortex and white matter and brainstem hypotrophy. In spinal cerebellar ataxias (SCAs), very rare in the pediatric population, MRI may demonstrate isolated cerebellar atrophy or cerebellar and brainstem atrophy. MRI shows characteristic findings in other diseases, strongly suggesting a distinct disorder, such as neuroaxonal dystrophy, ARSACS, ataxia-telangiectasia, or precise mitochondrial diseases. An example of neurodegenerative disorder with prenatal onset is pontocerebellar hypoplasia (PCH). PCH represents a group of neurodegenerative disorders characterized by microcephaly, early cerebellar hypoplasia, and variable atrophy of the cerebellum and ventral pons, genetically divided into several subtypes. Cerebellar hypoplasia visible on MRI is often the first sign that suggests the clinical diagnosis. In most cases, the PCH subtype may demonstrate a characteristic pattern distinguishable at MRI. Selective involvement of the cerebellum, sometimes accompanied by brainstem or supratentorial abnormalities in different combinations, may help restrict the differential diagnosis and may address the specific molecular screening.