Regressive pyridoxine-induced sensory neuronopathy
in a patient with homocystinuria.
constitute a large spectrum of abnormalities affecting both peripheral and autonomic nerve functions.
On the ground of electrophysiological measurements it couldn't be distinguished if sensory deficit is due to peripheral neuropathy or neuronopathy
. Autopsy revealed dorsal root ganglionopathy and ganglionopathy of the cranial nerves: Scarpa's ganglion (84% reduction in cell bodies), geniculate and trigeminal ganglia as well, but spiral ganglion and auditory nerve were intact.
A similar pathological pattern is reported in several animal models of MN disease such as the motorneuron degeneration model and the progressive motor neuronopathy
model. Even a complete rescue of the MN cells cannot effectively delay muscle denervation and only moderately suspends the mSOD1 mice death.,,
Patients with CANVAS, in addition to cerebellar ataxia, experience alterations in the information provided by these systems; these may be proprioceptive (because of neuronopathy
) and vestibular (because of bilateral vestibulopathy).
Data of patients Case Age Sex Paraneoplastic neurological syndromes 1 90 F Subacute cerebellar degeneration 2 56 F Subacute cerebellar degeneration 3 63 M Stiff-person syndrome 4 57 F Stiff-person syndrome 5 44 F Stiff-person syndrome 6 60 M Lambert-Eaton myasthenic syndrome 7 53 M Sensory neuronopathy
8 56 M Limbic encephalitis 9 54 M Limbic encephalitis Case Main associated tumors Paraneoplastic antibodies 1 Breast Anti-Yo 2 Small-cell lung cancer Anti-Hu 3 Not detected Anti-GAD 4 Thyroid Anti-GAD 5 Breast Not evaluated 6 Small-cell lung cancer Not evaluated 7 Lung adenocarcinoma Anti-Yo 8 Testicle Negative 9 No tumor LGI1 F: Female, M: Male, LGI1: Leucine-rich glioma inactivated 1, GAD: Glutamic acid decarboxylase Table 2.
Severe motor neuropathy or neuronopathy
due to nitrous oxide toxicity after correction of vitamin B12 deficiency.
Muller et al., "Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
," American Journal of Human Genetics, vol.
Thoenen, "Ciliary neurotrophic factor prevents degeneration of motor neurons in mouse mutant progressive motor neuronopathy
," Nature, vol.
Role of the blink reflex in the evaluation of sensory neuronopathy
. Neurology 1999; 53:407-408.
(1992) Ciliary neurotrophic factor prevents degeneration of motor neurons in mouse mutant progressive motor neuronopathy
. Nature 358, 502-504.