Objective: In patients presenting with painful, burning feet with minimal signs of neuropathy, the following questions were addressed: 1) How many of these patients have a peripheral neuropathy? 2) What is the role of skin biopsy in establishing a diagnosis of neuropathy? 3) What conditions are associated with the neuropathy? and 4) What laboratory studies are useful in this patient population? Methods: A total of 117 consecutive patients referred for evaluation were prospectively studied. All underwent nerve conduction studies (NCS) and a battery of blood tests, including antinerve antibodies. If NCS were normal, a punch biopsy of the skin of the distal leg was performed to ascertain the intraepidermal nerve fiber (IENF) density. In a subset of 32 patients, the sensitivity of skin biopsy was compared to quantitative sudomotor axon test (QSART) and quantitative sensory tests (QST). Results: Three groups emerged. Group 1, with abnormal NCS (n = 60, 34 F/26 M, mean age 60 ± 14 years), represented 51% of the cohort. The majority had neuropathies of undetermined cause, but 18 (30%) had associated conditions. Group 2, with normal NCS and reduced IENF density (n = 44, 29 F/15 M, mean age 57 ± 14 years), represented 38% of the cohort. Three in this group had associated conditions. Group 3, with normal NCS and IENF density (n = 13, 6 F/7 M, mean age 53 ± 13 years), represented 11% of the cohort; most had no diagnoses but two had MS. In a comparative subset analysis, skin biopsy was more sensitive than QSART or QST in diagnosing a neuropathy. Conclusions: Patients presenting with painful feet are heterogeneous, consisting of both large and small fiber sensory neuropathies. In rare cases, a central cause for pain can be found. Over one-third of patients required a skin biopsy to diagnose a small fiber sensory neuropathy. A limited battery of blood tests facilitated diagnosis, but serum antinerve antibodies were not helpful.

Painful sensory neuropathy: prospective evaluation using skin biopsy.

Until 30 years ago, Creutzfeldt–Jakob disease was an obscure form of dementia unknown to most physicians. The name is now familiar to the medical community as the major transmissible spongiform encephalopathy (or prion disease) in humans and to research scientists because of its strange causative agent with novel modes of replication and transmission. Furthermore, the term “Creutzfeldt–Jakob disease” has caused distress to patients who have been notified that they may have received tainted blood or blood products, and it has been popularized by extensive media coverage of bovine spongiform encephalopathy (“mad cow disease”), with its profound economic impact in Europe . . .

Creutzfeldt–Jakob Disease and Related Transmissible Spongiform Encephalopathies

Prion diseases have stimulated intense scientific scrutiny since it was proposed that the infectious agent was devoid of nucleic acid. Despite this finding, genetics has played a key role in understanding the pathobiology and clinical aspects of prion disease through the effects of a series of polymorphisms and mutations in the prion protein gene (PRNP). The advent of variant Creutzfeldt-Jakob disease has confirmed one of the most powerful human genetic susceptibility factors, as all tested patients have an identical genotype at polymorphic codon 129 of PRNP. This review will also consider the accrued reports of inherited prion disease and attempt a genotype-phenotype correlation. The prospects for detection of novel genetic susceptibility factors using mouse models and human genetic association studies will be explored.

/pdf/prion-disease-genetics-tliwt861xn.pdf

Prion disease genetics

Surgical treatment and risk of sporadic Creutzfeldt-Jakob disease: a case-control study.

Dural substitutes are provided, which include collagen treated and/or prepared to be physiologically compatible and substantially free of active viruses and prions. Suitable forms for the dural substitutes include a sponge, a film, a non-woven matrix, a felt or a combination of at least two of the foregoing forms. Also provided are a method for preparing dural substitutes and a method for promoting meningeal tissue growth.

Dural/meningeal repair product using collagen matrix

We report a 25-year-old man with Creutzfeldt-Jakob disease (CJD) who had received dura mater embolization in the external carotid artery for a nasopharyngeal angiofibroma 90 months earlier. The patient was heterozygotous (Met/Val) at codon 129. This case suggests that dura mater embolization can be responsible for the CJD.

Creutzfeldt‐Jakob disease after extracranial dura mater embolization for a nasopharyngeal angiofibroma

Intérêt de la biopsie musculaire à la pince dans le diagnostic étiologique des pathologies neuromusculaires

We performed a study of the distribution of PrP27-30, the proteinase-K-resistant form of prion protein, in the central and peripheral nervous system of a patient with a Glu200Lys mutation of the prion protein gene, cerebellar ataxia, subcortical dementia, rigidity, and demyelinating peripheral neuropathy. In the CNS, there was neuron loss and spongy degeneration, principally in the cerebellum, and with progressively lower density in the caudate nucleus, thalamus, temporal cortex, frontal cortex, and brainstem. Evaluation of the expression of PrP27-30 by Western blot showed that its distribution correlated with the intensity of the lesions in these regions. In contrast, we did not detect PrP27-30 in the peripheral nervous system where lesions consisted of demyelination, and remyelination that predominated in the proximal nerve trunks and roots.

Demyelinating peripheral neuropathy with Creutzfeldt-Jakob disease and mutation at codon 200 of the prion protein gene

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Creutzfeldt‐Jakob disease after extracranial dura mater embolization for a nasopharyngeal angiofibroma

Intérêt de la biopsie musculaire à la pince dans le diagnostic étiologique des pathologies neuromusculaires

Demyelinating peripheral neuropathy with Creutzfeldt-Jakob disease and mutation at codon 200 of the prion protein gene