The last two decades have seen clinical and molecular delineation of the different forms of neurofibromatosis. Differentiation of these forms is not just an academic exercise: their natural history, management and genetic counselling are quite different. Of the numerical classifications of neurofibromatosis proposed in the past, only neurofibromatosis type 1 (Nf1) and neurofibromatosis type 2 (Nf2) are now well delineated clinically and have been shown to be distinct at the molecular level. For both forms of neurofibromatosis, patients with clinical generalised disease have been demonstrated to be mosaic at the molecular level, and features of segmental or mosaic Nf1 and Nf2 have been delineated. Other reported forms of neurofibromatosis are rarer; they include Watson syndrome, hereditary spinal neurofibromatosis, familial intestinal neurofibromatosis, autosomal dominant café-au-lait spots alone, autosomal dominant neurofibromas alone, and schwannomatosis, the latter believed to be a variant of Nf2. Further delineation is needed for individuals having overlapping features of Noonan's syndrome and neurofibromatosis (the so-called Noonan/neurofibromatosis syndrome) and the syndrome of "multiple naevi, multiple schwannomas and multiple vaginal leiomyomas". In this article we review the forms of neurofibromatosis which we believe are true clinical entities. Particular attention is given to the neurological manifestations of neurofibromatosis.
{"title":"The neurofibromatoses. An overview.","authors":"M Ruggieri, S M Huson","doi":"10.1007/s100720050017","DOIUrl":"https://doi.org/10.1007/s100720050017","url":null,"abstract":"<p><p>The last two decades have seen clinical and molecular delineation of the different forms of neurofibromatosis. Differentiation of these forms is not just an academic exercise: their natural history, management and genetic counselling are quite different. Of the numerical classifications of neurofibromatosis proposed in the past, only neurofibromatosis type 1 (Nf1) and neurofibromatosis type 2 (Nf2) are now well delineated clinically and have been shown to be distinct at the molecular level. For both forms of neurofibromatosis, patients with clinical generalised disease have been demonstrated to be mosaic at the molecular level, and features of segmental or mosaic Nf1 and Nf2 have been delineated. Other reported forms of neurofibromatosis are rarer; they include Watson syndrome, hereditary spinal neurofibromatosis, familial intestinal neurofibromatosis, autosomal dominant café-au-lait spots alone, autosomal dominant neurofibromas alone, and schwannomatosis, the latter believed to be a variant of Nf2. Further delineation is needed for individuals having overlapping features of Noonan's syndrome and neurofibromatosis (the so-called Noonan/neurofibromatosis syndrome) and the syndrome of \"multiple naevi, multiple schwannomas and multiple vaginal leiomyomas\". In this article we review the forms of neurofibromatosis which we believe are true clinical entities. Particular attention is given to the neurological manifestations of neurofibromatosis.</p>","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 2","pages":"89-108"},"PeriodicalIF":0.0,"publicationDate":"1999-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050017","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21772427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"General considerations on the symptomatic and prophylactic treatment of cluster headache.","authors":"F Moschiano, G Bussone","doi":"10.1007/pl00015003","DOIUrl":"https://doi.org/10.1007/pl00015003","url":null,"abstract":"","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 2 Suppl","pages":"S60-2"},"PeriodicalIF":0.0,"publicationDate":"1999-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/pl00015003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21517404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The clinical and neurophysiological findings in a patient with a typical stiff-man syndrome and their three-year evolution are described. The patient had high titers of anti-glutamic acid decarboxylase antibodies in both serum and cerebrospinal fluid. Magnetic resonance imaging (MRI) of brain and spinal cord was normal. Transcranial magnetic stimulation (TMS) revealed a distinctive motor evoked potential (MEP) pattern in proximal lower limb muscles consisting of markedly increased MEP amplitudes and MEP/M ratios, reduced excitability thresholds, and absent silent period. However, MEP latencies, central and peripheral conduction times and amplitudes obtained by magnetic spinal root stimulation were normal. Treatment with benzodiazepine and baclofen normalized both the clinical picture and the MEP values. TMS may be useful both as a diagnostic tool and to monitor the response to drug treatment.
{"title":"Motor evoked potentials in a case of stiff-man syndrome: a longitudinal study.","authors":"F Logullo, P Di Bella, L Provinciali","doi":"10.1007/s100720050021","DOIUrl":"https://doi.org/10.1007/s100720050021","url":null,"abstract":"<p><p>The clinical and neurophysiological findings in a patient with a typical stiff-man syndrome and their three-year evolution are described. The patient had high titers of anti-glutamic acid decarboxylase antibodies in both serum and cerebrospinal fluid. Magnetic resonance imaging (MRI) of brain and spinal cord was normal. Transcranial magnetic stimulation (TMS) revealed a distinctive motor evoked potential (MEP) pattern in proximal lower limb muscles consisting of markedly increased MEP amplitudes and MEP/M ratios, reduced excitability thresholds, and absent silent period. However, MEP latencies, central and peripheral conduction times and amplitudes obtained by magnetic spinal root stimulation were normal. Treatment with benzodiazepine and baclofen normalized both the clinical picture and the MEP values. TMS may be useful both as a diagnostic tool and to monitor the response to drug treatment.</p>","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 2","pages":"133-8"},"PeriodicalIF":0.0,"publicationDate":"1999-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050021","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21772338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Epidemiological and clinical aspects of cluster headache: relation with the migrainous syndrome.","authors":"G C Manzoni","doi":"10.1007/pl00014997","DOIUrl":"https://doi.org/10.1007/pl00014997","url":null,"abstract":"","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 2 Suppl","pages":"S4-6"},"PeriodicalIF":0.0,"publicationDate":"1999-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/pl00014997","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21517388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G Sandrini, A Proietti Cecchini, E Pucci, I Milanov, G Nappi
{"title":"Neurophysiological approach to the study of cluster headache.","authors":"G Sandrini, A Proietti Cecchini, E Pucci, I Milanov, G Nappi","doi":"10.1007/pl00014995","DOIUrl":"https://doi.org/10.1007/pl00014995","url":null,"abstract":"","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 2 Suppl","pages":"S31-3"},"PeriodicalIF":0.0,"publicationDate":"1999-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/pl00014995","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21517396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cluster headache: role of surgery.","authors":"G Broggi, A Franzini, P Ferroli","doi":"10.1007/pl00015009","DOIUrl":"https://doi.org/10.1007/pl00015009","url":null,"abstract":"","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 2 Suppl","pages":"S75-9"},"PeriodicalIF":0.0,"publicationDate":"1999-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/pl00015009","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21517409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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