A missense point mutation in nerve growth factor (NGF^R100W) results in selective peripheral sensory neuropathy.

ABSTRACT: The R100W mutation in nerve growth factor is associated with hereditary sensory autonomic neuropathy V in a Swedish family. These patients develop severe loss of perception to deep pain but with apparently normal cognitive functions. To better understand the disease mechanism, we examined a knockin mouse model of HSAN V. The homozygous mice showed significant structural deficits in intra-epidermal nerve fibers (IENFs) at birth. These mice had a total loss of pain perception at ∼2 months of age and often failed to survive to adulthood. Heterozygous mutant mice developed a progressive degeneration of small sensory fibers both behaviorally and functionally: they showed a progressive loss of IENFs starting at the age of 9 months accompanied with progressive loss of perception to painful stimul

SUBMITTER: Yang W 

PROVIDER: S-EPMC12327444 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature