User:MKMurphy/Vestibulocerebellar Syndrome

We plan to research the categories pertaining to Vestibulocerebellar syndrome or vestibulocerebellar ataxia: symptoms, origin and history, causes, management, prognosis, and research directions. We have found that people exibiting vestibulocerebellar ataxia suffer periodic attacks over many years. These attacks vary in frequency and severity but the most common stymptoms are nystagmus, nausea, vertigo, impaired coordination and balance, and vomiting. Vestibulocerebellar syndrome exhibits symptoms that are similar to various migraine, vertigo and neurodegenerative disorders.

VC ataxia was first discovered in a white, rural North Carolina family. It affected 16 members of this family over 3 generations and has affected other individuals since its discovery. We hope to find more information on this family including the disease pedigree.

This disease has been characterized as autosomal dominant. Those afflicted exhibit severe neurodegeneration. A specific locus or molecular mechanism for vestibulocerebellar ataxia has not been defined. One study that we discovered suggested the involvement of chromosome 13q31-q33, locus NYS4 in the display nystgamus. However, this single defective locus does not account for the full set of symptoms associated with the disorder. Another study stated the vestibulocerebellar syndrome has been identified as genetically distinct from other similar autosomal dominant ataxias for which a genetic source had been discovered.

Reports of disease onset vary, but in general studies have found that full onset occurs early in adult life. Some symptoms, particularly nystagmus, manifest much sooner in early childhood. It is common for people with vestibulocerebellar disease to develop more advanced cerebellar disease as attacks persist. This ultimately leads to severe motor incapacitity.

At this time we have been unable to find evidence for management options or research directions.

Sergio will research Symptoms and Management. Randie will research Origin/History and Prognosis. Meredith will research Causes and Research Directions.

References

1. Diener, H. C. & Dichgans, J. Pathophysiology of cerebellar ataxia. Movement disorders 7, 95-109 (1992).

2. Harris, C. M., Walker, J., Shawkat, F., Wilson, J. & Russell-Eggitt, I. Eye movements in a familial vestibulocerebellar disorder. Neuropediatrics 24, 117-122 (1993).

3. Marsden, J. & Harris, C. Cerebellar ataxia: pathophysiology and rehabilitation. Clin. Rehabil. 25, 195-216 (2011).

4. Ragge, N. K. et al. Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus. J. Med. Genet. 40, 37-41 (2003).

5. Theunissen, E. J., Huygen, P. L. & Verhagen, W. I. Familial vestibulocerebellar dysfunction: a new syndrome? J. Neurol. Sci. 89, 149-155 (1989).

6. Wang, X. et al. Spinocerebellar ataxia type 6: Systematic patho-anatomical study reveals different phylogenetically defined regions of the cerebellum and neural pathways undergo different evolutions of the degenerative process. Neuropathology (2010).