No disease-modifying therapy has been established for spinocerebellar degeneration and multiple system atrophy, and only symptomatic therapy is currently available. Taltirelin and protirelin are drugs covered by health insurance for cerebellar ataxia symptoms, and are expected to suppress the progression of symptoms. Muscle relaxants are used for spasticity associated with spinocerebellar degeneration, and vasopressors and therapeutic agents for dysuria are used for autonomic symptoms of multiple system atrophy. It is necessary to develop a new therapeutic agent with a different mechanism of action, aimed specifically at modifying the disease progression in patients with spinocerebellar degeneration and multiple system atrophy.

The spinocerebellar degenerations/ataxias (SCAs) are a diverse group of rare, slowly progressive, neurological diseases, often inherited but of incompletely understood pathophysiology, which affect the cerebellum and its related pathways. They have few animal models and share no reliable biomarkers. They have, as yet, no universally validated rating scale for use in clinical trials. In the past 25 years, there have been, at most, 18 controlled (Class 1) trials for ataxia, which have focused on neurotransmitter mechanisms. There is currently only one National Institute of Neurological Disorders and Stroke-sponsored drug trial for ataxia (Phase I study of idebenone in Friedreich’s ataxia). There are, as yet, no FDA-approved drugs for SCA. Current treatment practices encompass rehabilitation interventions and off-label use of symptomatic medications [1,2].

Forty cases with several forms of spinocerebellar degenerations were studied. The diagnosis was based on an appropriate clinical picture, radiological investigation and family history. There are multiple variants of spinocerebellar degeneration and classification of these diseases remains unsatisfactory and therefore controversial. We classified cases into three main groups. The numbers of cases in each of these groups were as follows: cerebellar group = 16 cases, cerebellar plus group = 9 cases, spinal group = 15 cases. The age, age of onset, mode of inheritance, clinical pictures and cerebrospinal fluid analysis of these cases were discussed. Results of various radiological investigations of these cases were reviewed. From our observations we can conclude that the morphologic changes seen in radiological investigations in our cases were more varied than the observed clinical syndromes. The cause of these syndromes remains unknown and there is no established treatment for spinocerebellar degeneration. We can only offer symptomatic treatment, physiotherapy and genetic counselling for this group of patients.

SummaryA brief review of spinocerebellar degenerations as seen in pediatric practive with four illustrative case reports is presented.