Hereditary Sensory Neuropathy With Spastic Paraplegia

Abstract

Five cases of spastic paraplegia with a progressive symmetrical sensory neuropathy producing ulceration and osteomyelitis of the hands and feet are reported. The pathology in one patient, who died of secondary amyloidosis, was similar to that found by Denny-Brown in hereditary sensory radicular neuropathy with severe loss of posterior root ganglion cells and loss of myelinated fibres in both peripheral nerves and posterior columns of the spinal cord. A sural nerve biopsy in another case showed a striking loss of both myelinated and unmyelinated fibres, with some evidence of degeneration and regeneration. The inheritance is probably by an autosomal recessive gene. The prognosis in the more severe form of the disorder is poor.

Hereditary spastic paraparesis: a review of new developments

“…Such families represent examples of complicated HSP. Earlier reports described a severe sensory neuropathy in association with HSP, with chronic painless cutaneous ulcers and neuropathic bone resorption occurring in early childhood 51. In a less severe form trophic skin changes and ulcers on the feet develop in adult life superimposed on a longer established spastic paraparesis 52…”

Biochemical Characterization of Mutants in Chaperonin Proteins CCT4 and CCT5 Associated with Hereditary Sensory Neuropathy

“…Genetic screening of many neuropathy families has led to the discovery of several mutated genes associated with HSNs and other related neuropathy diseases. These neuropathies may be inherited through autosomal dominant or autosomal recessive forms and are heterogeneous in their pathological and behavioral symptoms (2)(3)(4). Although age of onset is variable, severe instances of this disease can result in both onset and death in childhood (2).…”

Mutilating Acral Ulcers: The Spectrum of Differential Diagnosis

“…The electrophysiological studies of the affected family members revealed a severe axonal sensory neuropathy. There are other reports of autosomal recessive 13,14 or autosomal dominant inheritance 15,16 and sporadic 17,18 cases of this rare disorder.…”