Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:dateCreated |
1994-10-27
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
0006-8950
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
117 ( Pt 4)
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
651-9
|
| pubmed:dateRevised |
2009-11-19
|
| pubmed:meshHeading |
pubmed-meshheading:7922454-Adolescent,
pubmed-meshheading:7922454-Adult,
pubmed-meshheading:7922454-Female,
pubmed-meshheading:7922454-Hereditary Sensory and Motor Neuropathy,
pubmed-meshheading:7922454-Humans,
pubmed-meshheading:7922454-Male,
pubmed-meshheading:7922454-Neural Conduction,
pubmed-meshheading:7922454-Paraplegia,
pubmed-meshheading:7922454-Peripheral Nerves
|
| pubmed:year |
1994
|
| pubmed:articleTitle |
Autosomal recessive hereditary sensory neuropathy with spastic paraplegia.
|
| pubmed:affiliation |
Department of Neurosciences, Royal Free Hospital School of Medicine, London, UK.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|