REVIEWARTICLE Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using BrainMRI

SUMMARY: Ataxia is the principal symptom of many common neurologic diseases in childhood. Ataxias caused by dysfunction of the cerebellum occur in acute, intermittent, and progressive disorders. Most of the chronic progressive processes are secondary to degen-erative and metabolic diseases. In addition, congenital malformation of the midbrain and hindbrain can also be present, with posterior fossa symptoms related to ataxia. Brain MR imaging is the most accurate imaging technique to investigate these patients, and imaging abnormalities include size, shape, and/or signal of the brain stem and/or cerebellum. Supratentorial and cord lesions are also common. This review will discuss a pattern-recognition approach to inherited cerebellar ataxia in childhood. The purpose is to provide a comprehensive discussion that ultimately could help neuroradiologists better manage this important topic in pediatric neurology. ABBREVIATIONS: AR autosomal recessive; CAC cerebellar ataxia in childhood; 4H hypomyelination with hypogonadotropic hypogonadism and hypodon-tia; JSRD Joubert syndrome and related disorders; OPHN1 oligophrenin-1 Ataxia is an inability to coordinate voluntary muscle move-ments that cannot be attributed to weakness or involuntary muscle activity.1 It may be present in multiple parts of the body, leading to disorders of gait, limb, or trunk control. Although gait ataxia can be caused by peripheral sensory impairment, it is often observed in association with dysfunction or lesions of the cerebel