Autosomal recessive hereditary sensory neuropathy with spastic paraplegia.
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.
Thomas
P K
PK
Department of Neurosciences, Royal Free Hospital School of Medicine, London, UK.
Misra
V P
VP
King
R H
RH
Muddle
J R
JR
Wroe
S
S
Bhatia
K P
KP
Anderson
M
M
Cabello
A
A
Vilchez
J
J
Wadia
N H
NH
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