Rev Neurol France
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Tarlov cysts and nerve roots anomalies usually involve lumbosacral roots and are often asymptomatic. MRI has enabled recognition of many conditions that used to be missed by CT or myelography investigations performed for back and leg pain. However, even without additional compressive impingement (disc hernia, spondylolisthesis or lumbar canal stenosis) these anomalies can be responsible for sciatica, motor deficit and bladder sphincter dysfunction. ⋯ We report two cases of sciatica: one caused by Tarlov cysts diagnosed by MRI and the other by nerve root anomalies diagnosed by CT myelography. In both cases, conservative treatment was undertaken. The clinical, radiological and therapeutic aspects of these disorders are discussed.
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Given the current developments of therapeutic strategies in the field of neurodegenerative disorders, exact diagnosis, especially at an early stage, is becoming increasingly crucial for optimal patient care. Importantly, the new diagnosis criteria of dementia include functional imagery as well as CSF biomarkers. ⋯ The interest of CSF analysis resides in the anatomical and pathophysiological characteristics of this fluid. In this article, we will review current proteomics investigations of CSF which have led to the discovery and validation of biomarkers, mainly in the field of neurodegenerative disorders in Alzheimer's disease.
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The association semantic dementia-amyotrophic lateral sclerosis has been rarely reported in the literature. We report a case study of a patient with a severe prosopagnosia in relation with semantic dementia associated, 12 months later, with a motor neuron disease.
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In small-fiber neuropathy, skin biopsy reveals a reduction of intraepidermal nerve fiber density (IENFD), a feature often necessary for diagnosis. In France, this technique has not been widely used for this purpose. ⋯ This work demonstrated the good reproducibility of skin biopsy for analyzing the small-fibers in our cohort. These results require further confirmation in a larger cohort and validation in comparison with controls analyzed on a local level. Nevertheless, these techniques seem to be useful to assess the difficult diagnosis of small-fiber neuropathy.
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Congenital insensitivity to pain (CIP) is a rare syndrome with various clinical expressions, characterized by a dramatic impairment of pain perception since birth. In the 1980s, progress in nerve histopathology allowed to demonstrate that CIP was almost always a manifestation of hereditary sensory and autonomic neuropathies (HSAN) involving the small-calibre (A-delta and C) nerve fibres which normally transmit nociceptive inputs along sensory nerves. Identification of the genetic basis of several clinical subtypes has led to a better understanding of the mechanisms involved, emphasizing in particular the crucial role of nerve growth factor (NGF) in the development and survival of nociceptors. ⋯ This radical impairment of nociception mirrors the hereditary pain syndromes associated with "gain of function" mutations of the same ion channel, such as familial erythromelalgia and paroxysmal extreme pain disorder. Future research with CIP patients may identify other proteins specifically involved in nociception, which might represent potential targets for chronic pain treatment. Moreover, this rare clinical syndrome offers the opportunity to address interesting neuropsychological issues, such as the role of pain experience in the construction of body image and in the empathic representation of others' pain.