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CANVAS including its clinical components of cerebellar ataxia, sensory neuropathy and vestibular areflexia is presented in this review. An intronic biallelic pentanucleotide expansion in RFC1 is the genetic cause of CANVAS. Several patients diagnosed with isolated "idiopathic" neurological or otological conditions might have a CANVAS spectrum disorder. The number of CANVAS patients may well increase considerably in the near future, making it important to consider the diagnostic set-up and infrastructure for counselling, treatment and follow-up in the Danish healthcare system.

The accurate diagnosis of peripheral neuropathy is important with respect to the therapeutic possibilities and limitations, which are especially relevant in immune-mediated polyneuropathies. These polyneuropathies may be axonal or demyelinating and have an acute or chronic course, and they may be difficult to distinguish from non-treatable neuropathies on clinical grounds. Efforts have been made to establish clinical, neurophysiological, morphological, biochemical, immunological and molecular biological criteria to attain specific diagnosis. This has shown heterogeneity not only within the treatable neuropathies, which may have implications for the treatment. It has also been shown that hereditary or diabetic polyneuropathy may have features which respond to immunosuppressive treatment. Molecular biology studies have revealed markers for the diagnosis of hereditary neuropathy, and have in some instances also delineated the gene product.

During recent years chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) has been characterized on the basis of clinical and laboratory findings. Immune modifying treatment with glucocorticoids, plasma exchange and infusion of immune globulins has had a therapeutic effect in controlled studies. Decisive for increased therapeutic efforts against CIDP in Denmark is intensified electrophysiological search in patients with polyneuropathy with examination of several nerve segments for evidence of demyelination including conduction block, potential dispersion and reduction of conduction velocity by more than 40%.

A group of 6 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) was treated with prednisone, azathioprine, plasma exchange and/or intravenous immunoglobulin. Three of the six patients improved during treatment with prednisone and two patients with severe CIDP both showed a remarkable therapeutic response to treatment with intravenous immunoglobulin.