title: Autosomal recessive hereditary sensory neuropathy with spastic paraplegia.
abstract: Five patients are described with a progressive sensory neuropathy in association with a spastic paraplegia and a mutilating lower limb acropathy. Disease onset was in childhood. Two pairs of siblings were both the offspring of normal consanguinous parents, suggesting autosomal recessive inheritance. The fifth case was sporadic; her parents were normal and non-consanguinous. Nerve biopsy in three patients showed an axonopathy with a loss of myelinated nerve fibres of all diameters and also of unmyelinated axons. In combination with the previous report by Cavanagh et al. (Brain 1979; 102: 79-94), the present patients establish the existence of an autosomal recessive form of hereditary sensory neuropathy with spastic paraplegia. There have been previous descriptions of a dominantly inherited form.
authors.affiliation: Department of Neurosciences, Royal Free Hospital School of Medicine, London, UK.
authors.forename: P K
authors.initials: PK
authors.lastname: Thomas
authors.forename: V P
authors.initials: VP
authors.lastname: Misra
authors.forename: R H
authors.initials: RH
authors.lastname: King
authors.forename: J R
authors.initials: JR
authors.lastname: Muddle
authors.forename: S
authors.initials: S
authors.lastname: Wroe
authors.forename: K P
authors.initials: KP
authors.lastname: Bhatia
authors.forename: M
authors.initials: M
authors.lastname: Anderson
authors.forename: A
authors.initials: A
authors.lastname: Cabello
authors.forename: J
authors.initials: J
authors.lastname: Vilchez
authors.forename: N H
authors.initials: NH
authors.lastname: Wadia
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D009431:Neural Conduction; D010264:Paraplegia / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology