23 research outputs found
A new combined bodian-luxol technique for staining unmyelinated axons in semithin, resin-embedded peripheral nerves: a comparison with electron microscopy.
peer reviewedaudience: researcher, professionalQuantitation of unmyelinated fibers (UF) in peripheral nerves has classically relied upon ultrastructural morphometry. Because this method is time-consuming, it is not typically performed in routine analysis of nerve biopsies. We applied the Bodian-Luxol technique to detect unmyelinated axons by light microscopy on semithin sections from resin-embedded nerve tissue. Estimates were compared to ultrastructural counts. The staining appeared highly specific for axons. Excellent correlation was found between optic densities and the population of UF larger than 0.5 microm. The smallest profiles detected by light microscopy had a diameter close to 0.6 microm. This new technique is not a substitute for ultrastructural quantitative morphometry of UF, as very small unmyelinated axons, especially regenerating ones, can not be reliably visualized. However, it provides a valuable light microscopic method for evaluating axonal loss among UF
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Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
OBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated Belgian patients with frontotemporal dementia (FTD).
METHODS: Genetic screening in the ANCL family and FTD cohort (n = 461) was performed using exome sequencing and targeted massive parallel resequencing.
RESULTS: We identified a homozygous mutation (p.Ile404Thr) in the Cathepsin F (CTSF) gene cosegregating in the ANCL family. No other mutations were found that could explain the disease in this family. All 4 affected sibs developed motor symptoms and early-onset dementia with prominent frontal features. Two of them evolved to akinetic mutism. Disease presentation showed marked phenotypic variation with the onset ranging from 26 to 50 years. Myoclonic epilepsy in one of the sibs was suggestive for KD type A, while epilepsy was not present in the other sibs who presented with clinical features of KD type B. In a Belgian cohort of unrelated patients with FTD, the same heterozygous p.Arg245His mutation was identified in 2 patients who shared a common haplotype.
CONCLUSIONS: A homozygous CTSF mutation was identified in a recessive ANCL pedigree. In contrast to the previous associations of CTSF with KD type B, our findings suggest that CTSF genetic testing should also be considered in patients with KD type A as well as in early-onset dementia with prominent frontal lobe and motor symptoms
Nerve biopsy: indications and contribution to the diagnosis of peripheral neuropathy. The experience of the Born Bunge Foundation University of Antwerp and University of Liege between 1987 and 1997.
We reviewed 355 nerve biopsies analysed at the Laboratories of Neuropathology of the Born-Bunge Foundation/University of Antwerp (BBF/UIA) and University of Liege (ULg) between 1987 and 1997. We examined the indications for nerve biopsy, the yield of the procedure, and the influence of clinical and neuropathological parameters. Contributory biopsies accounted for 35.5% and 47.3% respectively at ULg and BBF/UIA laboratories: of these, one third showed specific histological findings, the majority being informative only when combined with the relevant clinical data. The profile of indications for nerve biopsy was roughly comparable in both laboratories. The search for an inflammatory neuropathy prompted 35-40% of all biopsies with more than 50% of specimens being informative in this indication. The lowest yield (20%) was obtained among the nerve biopsies performed in the absence of any presumptive aetiology. These accounted for 22-33% of all cases. Inadequate surgical resection, delays in transport or processing errors precluded histological study of 4% (BBF/UIA) to 8% (ULg) of the specimens. We conclude that nerve biopsies should be performed by experienced surgeons and handled in specialised laboratories. Only a relatively small number of causes of neuropathy can be diagnosed on the basis of histology alone. More often, contributory biopsies will result from the combination of non-specific suggestive histological features with relevant clinical information. The diagnostic yield of nerve biopsy is function of careful patient selection and close collaboration between the clinician and the neuropathologist