In the distal stump, the cytoskeletal structures (neurofilaments
and microtubules) go through disintegration, with accumulation of granular debris in the axoplasm.
The density of the axoplasmic neurofilaments
accumulate in the blood not only in Alzheimer's but also in the course of other neurodegenerative disorders.
However, normal brain MRI is also commonly seen., Other changes include cerebral and/or cerebellar and/or brainstem atrophy. The brain MRI of reported patient with homozygous c.1634G>A mutations showed Arnold-Chiari I malformation rather than white matter changes. The presence of giant axon with accumulation of neurofilaments
and axonal spheroids is the hallmarks in nerve biopsy. Our patient presented typical progressive sensorimotor neuropathy and cerebellar ataxia.
The axoplasma was normal, mitochondria and neurofilaments
were evident, and Schwann cell nucleus and nucleolus were seen.
The prognostic value of CSF neurofilaments
in multiple sclerosis at 15-year follow-up.
The peripheral nerve dysfunction was also linked to the morphological evidence of primary axonal degeneration in the form of shrinkage of axons, disintegration of neurotubules and neurofilaments
, and active axonal breakdown.
The PNETs often express vimentin, CD99, neuron-specific enolase (NSE), neurofilaments
, S-100, CD56, chromogranin, and synaptophysin, while glial fibrillary acidic protein and cytokeratin are less frequently positive.,, Elbashier et al . analyzed 43 cases diagnosed of ES/PNET on the various body sites and summarized that vimentin expressed in 96.5% cases, CD99 in 93%, NSE in 78.3%, and cytokeratin in 40%.
Both of these cell types are usually negative for chromogranin A and neurofilaments
. mNtI is usually negative for Ki-67 and CD99, but when present, it appears to be correlated with the more aggressive growth of the tumor .
At the clinical peak stage of NMO in the vehicle-treated rats, Western blotting (Supplementary Figures 2C and 2D) and immunostaining for NF-M (Figures 5, double stained with MBP), a marker of neurofilaments
, revealed that the axonal density in the CNS was reduced (Figures 5(b) and 5(g); Supplementary Figures 2C and 2D) when compared with the control group (Figures 5(a) and 5(f); Supplementary 2C and 2D).
Improper phosphorylation of neurofilaments
can affect dendritic structure due to improper transport and cross-bridging of these proteins.