These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Autosomal recessive hereditary sensory neuropathy with spastic paraplegia.
    Author: Thomas PK, Misra VP, King RH, Muddle JR, Wroe S, Bhatia KP, Anderson M, Cabello A, Vilchez J, Wadia NH.
    Journal: Brain; 1994 Aug; 117 ( Pt 4)():651-9. PubMed ID: 7922454.
    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.
    [Abstract] [Full Text] [Related] [New Search]