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To evaluate whether chronic idiopathic axonal polyneuropathy (CIAP) should be considered as hereditary motor and sensory neuropathy type 2 (HMSN type 2), we compared the clinical features of 48 patients with CIAP with those of 47 patients with HMSN type 2. In addition, we studied electrophysiological data in 20 patients with CIAP and in 20 patients with HMSN type 2. We found, in patients with HMSN type 2, that the initial symptoms were predominantly motor and that weakness and handicap were more severe and skeletal deformities more frequent, compared with those of CIAP patients. Electrophysiologically, the tibialis anterior muscle showed more denervation in patients with HMSN type 2, consistent with the predominance of motor symptoms. There was no important effect of age of onset on clinical features in HMSN type 2 patients. We conclude that in an individual patient with a sensory or sensorimotor idiopathic axonal polyneuropathy and no family history of polyneuropathies, the diagnosis HMSN type 2 is unlikely. However, if motor symptoms predominate, the diagnosis of HMSN type 2 should be considered.

In most peripheral neuropathies, dysfunction of motor and sensory nerve fibres is present. However, in some of them either pattern may predominate or be exclusively present. In this review we describe the clinical characteristics of sensory neuropathies, with emphasis on their possible causes. Guidelines are given for the diagnostic approach in these patients and, where possible, suggestions are given for treatment, including symptomatic treatment of painful neuropathies.

To investigate immune mechanisms in the etiology of idiopathic sensory neuronopathy (ISN), we studied neurite outgrowth inhibition and antibody binding to neuronal tissue of serum from 4 patients with ISN. Rat dorsal root ganglion (DRG) cells were cultured in the presence of serum from ISN patients and controls. After 48 h of incubation, neurite outgrowth was quantified with a neurofilament ELISA. Serum from ISN patients significantly inhibited DRG neurite outgrowth compared to controls. ISN serum also strongly immunostained fixed cultured and cryostat rat DRG neurons (at dilutions up to 1:10,240), whereas serum from controls did not. Western blots showed unique binding patterns to DRG proteins in 3 ISN patients compared with controls, but a single band corresponding in all ISN patients was not found. The inhibitory effect of ISN serum on neurite outgrowth and the presence of circulating anti-DRG antibodies in the acute phase of the disease supports an immune-mediated pathogenesis of ISN.

In an open prospective study we analysed the effect of treatment with intravenous immunoglobulin (IvIg) in three patients with clinically pure sensory neuropathy, two of whom met the clinical, electrophysiological, pathological and cerebrospinal fluid research criteria of the American Academy of Neurology for chronic inflammatory demyelinating polyneuropathy. In all patients, subclinical signs of demyelination were present in motor nerves. Treatment with IvIg resulted in improvement of neurological functions in all three patients and in improvement of the disability score in two of them.

We describe a Dutch family with sensory ataxia in two generations, late onset of symptoms (over the age of 40 years) and slow progression. Clinical, electrophysiological and sural nerve biopsy findings revealed a sensory polyneuropathy due to axonal degeneration of myelinated nerve fibres in four of five investigated siblings. Other neurological abnormalities in the affected family members consisted only of mild eye movement disturbances, probably due to cerebellar involvement. Five other family members were investigated and found unaffected. As the disease is inherited from the affected father to his sons and daughters, this is the first description of a probably autosomal dominant form of late onset hereditary sensory neuropathy with predominant sensory ataxia and minor other neurological abnormalities.

Seventy five patients with chronic idiopathic axonal polyneuropathy (CIAP) were studied for five years. The standardised and quantified neurological examination shows that progression of CIAP is slow, and handicap, if present, is not severe. During the follow up period a definite cause of the neuropathy was found in only four patients (two hereditary motor and sensory neuropathy type 2, one sensory chronic inflammatory demyelinating polyneuropathy, one alcoholic neuropathy). At the end of the follow up CIAP was not related to malignancy or gammopathy. Routine repetition of laboratory tests was not informative and these tests should be performed on clinical grounds only.

To quantify ataxia in a simple way four tests were developed and analysed, based on the neurological examination: a tapping test for the arms (test 1), another one for the legs (test 2), a quantified finger-to-nose test (test 3), and a modified Romberg test (test 4). All tests were performed by 115 volunteers, 13 patients with cerebellar ataxia and 25 patients with sensory ataxia due to neuropathy. The test-retest repeatability was excellent. Tests 1, 2 and 4 were age-dependent, with lower scores above age 65. On test 1, 2 and 4 both groups of patients performed worse than controls; the correlation with the ataxia scale of Nobile-Orazio and the modified disability Rankin scale was good (P < 0.05). Although test 3 could differentiate between sensory and cerebellar ataxia, it was not useful for quantifying the degree of ataxia. To determine the practical value of the four tests, 11 patients performed the tests for a second time after a follow up period of 16 months. The results indicate that tests 1, 2 and 4 are sensitive for the detection of ataxia and of changes in its severity.