What can acquired nystagmus tell us about congenital forms of nystagmus?
For several forms of acquired nystagmus, animal models exist, mathematical hypotheses have been proposed, and treatments are available. What insights could acquired nystagmus provide for congenital forms of nystagmus? Acquired periodic alternating nystagmus (PAN) is caused by instability of the velocity storage mechanism for vestibular eye movements; an adaptive mechanism produces the oscillations that have a period of about 4 minutes. Surprisingly, the ability of individuals with congenital forms of nystagmus to adapt their eye movements to new visual demands has received little study. Acquired pendular nystagmus (APN) may arise from instability in the neural integrator for eye movements; identification of the neurotransmitters contributing to normal gaze holding made it possible to identify candidate drugs for treatment of APN. Similar knowledge of the biology underlying of congenital forms of nystagmus might similarly suggest effective drugs. Downbeat nystagmus (DBN) is caused by cerebellar disease, which includes structural lesions affecting the flocculus and paraflocculus, and calcium channelopathies, such as episodic ataxia type 2 (EA2), for which a mouse model and effective treatment is available. Since some congenital forms of nystagmus are genetic in origin, then the possibility arises that they may be caused by a channelopathy, a hypothesis that suggests novel drugs for evaluation in randomized controlled trials.
Leigh
R John
RJ
Department of Neurology, Veterans Affairs Medical Center and University Hospitals, Case Western Reserve University, Cleveland, Ohio 44106-5040, USA. rjl4@case.edu
Khanna
Sangeeta
S
D000818:Animals; D002526:Cerebellar Diseases / Q000150:complications; D005133:Eye Movements / Q000502:physiology; D006801:Humans; D020417:Nystagmus, Congenital / Q000145:classification* / Q000209:etiology / Q000503:physiopathology; D012307:Risk Factors; D012720:Severity of Illness Index