1,721,066 research outputs found
I quadri neuropatologici delle sindromi paraneoplastiche
No full textI quadri neuropatologici delle sindromi paraneoplastich
Cytoskeletal pathology in ataxia-telangiectasia.
No full textNeuropathological features of a case of ataxia-telangiectasia are reported. The main findings were the presence of Lewy bodies, cytoplasmic inclusions and axonal spheroids in the brainstem nuclei; pathological changes of spinal cord closely resembled those reported in the familial form of amyotrophic lateral sclerosis. In immunocytochemical studies, filamentous inclusions and axonal spheroids strongly reacted with monoclonal antibodies against neurofilament subunits. The results show that disorganization and accumulation of neurofilament proteins occur in ataxia-telangiectasia
Atypical Alzheimer's disease: a case report.
No full textThis paper deals with an unusual case of Alzheimer's disease with early onset, no family history, myoclonus, tonic generalized seizures and pseudo-periodic spikes on EEG. The demise occurred after 8 years of progressive cognitive deterioration; the pathological examination showed "Pick-like" atrophy, neurofibrillary tangles, senile plaques, congophilic angiopathy and cerebellar amyloid plaques. The genetical research could not support the hypothesis of a mutation of Presenilin 1 and 2 genes. Anyway, the peculiarity of the phenotype is worthy to be described even in the absence of specific molecular findings
Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease
No full text[no abstract available
Reply to "Relationship between age and nerve dimensions in Charcot-Marie-Tooth disease. Do we know the reality?"
No full text[no abstract available
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