Immunvermittelte / inflammatorische und hereditäre Neuropathien – Übersicht und diagnostischer Algorithmus

Zusammenfassung

Diese Arbeit gibt eine praxisnahe Übersicht über immunvermittelte / inflammatorische und hereditäre Neuropathien mit Empfehlungen zur weiterführenden Diagnostik. Zur großen Gruppe der immunvermittelten / inflammatorischen Neuropathien zählen u. a. das Guillain-Barré-Syndrom und die chronisch-inflammatorische demyelinisierende Polyradikuloneuropathie mit ihren Subtypen, die vaskulitischen, paraneoplastischen, paraproteinämischen und die Kollagenose-assoziierten Neuropathien. Neben den klinischen Besonderheiten wie zeitlichem Verlauf und Verteilungstyp werden charakteristische Befunde der Elektroneurografie und Antikörper-Diagnostik berücksichtigt. Bei den hereditären Neuropathien sprechen neue Studien für eine Prävalenz von 10–28 pro 100 000 Einwohner in Europa. In den letzten 20 Jahren hat die molekulargenetische Diagnostik bei hereditären Neuropathien große Fortschritte gemacht. Mittlerweile sind über 80 Neuropathie-Gene bekannt. Neben der elektroneurografischen Einteilung in demyelinisierende, axonale und intermediäre Formen sind die Unterscheidung in sensomotorische, motorische, sensible oder autonom-sensible Neuropathien sowie die Berücksichtigung von klinischen Besonderheiten und ethnischer Zugehörigkeit hilfreich für die Bahnung der molekulargenetischen Diagnostik.

Abstract

This paper is a practical survey of immune-mediated, inflammatory and hereditary neuropathies along with recommendations for diagnostic procedures. The large group of immune-mediated, inflammatory neuropathies includes the Guillain-Barré syndrome and chronic-inflammatory demyelinating polyradiculoneuropathy and their subtypes, vasculitic, paraneoplastic and paraproteinemic neuropathies as well as neuropathies resulting from connective tissue disorders. Besides clinical features such as time-dependent progression and distribution of sensorimotor deficits, characteristic electroneurographic findings and antibody profiles are considered. Recent studies in hereditary neuropathies reveal a prevalence of 10–28 out of 100 000 persons in Europe. Research into the genetic causes has made significant progress in the last 20 years; up to now more than 80 genes mutated in hereditary neuropathies have been identified. Besides classification into axonal, demyelinating or intermediate neuropathies based on electroneurography, distinguishing between sensorimotor, pure motor and (autonomous) sensory neuropathies as well as consideration of particular clinical features and ethnic origin can be helpful in orientating molecular genetic analysis.

Schlüsselwörter

Neuropathie - immunvermittelt - inflammatorisch - hereditär - diagnostischer Algorithmus

Key words

Neuropathy - immune-mediated - inflammatory - hereditary - diagnostic algorithm

• Literatur

• 1 Rajabally Y.A., and Shah R.S. Dyslipidaemia in chronic acquired distal axonal polyneuropathy. J Neurol, 2011; 258 (08) : p. 1431-6 .
• 2 Lozeron P, Trocello J.M., and Kubis N. Acquired neuropathies. J Neurol, 2013; 260 (09) : p. 2433-40 .
• 3 Nobile-Orazio E, Bianco M, and Nozza A. Advances in the Treatment of Paraproteinemic Neuropathy. Curr Treat Options Neurol, 2017; 19 (12) : p. 43 .
• 4 Wong A.H., and Yuki N. Autoimmune inflammatory neuropathies: updates in pathogenesis, diagnosis, and treatment. Curr Opin Neurol, 2015; 28 (05) : p. 468-73 .
• 5 Dimachkie M.M., Barohn R.J., and Katz J. Multifocal motor neuropathy, multifocal acquired demyelinating sensory and motor neuropathy, and other chronic acquired demyelinating polyneuropathy variants. Neurol Clin, 2013; 31 (02) : p. 533-55 .
• 6 Mahdi-Rogers M. et al. Immunomodulatory treatment other than corticosteroids, immunoglobulin and plasma exchange for chronic inflammatory demyelinating polyradiculoneuropathy. Cochrane database Syst Rev, 2017; 5: CD003280 .
• 7 Eldar A.H, and Chapman J. Guillain Barre syndrome and other immune mediated neuropathies: diagnosis and classification. Autoimmun Rev, 2014; 13 (4-5) : p. 525-30 .
• 8 Martinez A.R. et al., Autoimmune neuropathies associated to rheumatic diseases. Autoimmun Rev, 2017; 16 (04) : p. 335-342 .
• 9 Tellier S. et al., [Guillain-Barre syndrome in a child with normal tendon reflexes]. Arch Pediatr, 2012; 19 (01) : p. 51-4 .
• 10 Kuwabara S. et al., Hyperreflexia in axonal Guillain-Barre syndrome subsequent to Campylobacter jejuni enteritis. J Neurol Sci, 2002; 199 1-2: p. 89-92 .
• 11 Esposito S, and Longo M.R. Guillain-Barre syndrome. Autoimmun Rev, 2017; 16 (01) : p. 96-101 .
• 12 Mathey E.K. et al., Chronic inflammatory demyelinating polyradiculoneuropathy: from pathology to phenotype. J Neurol Neurosurg Psychiatry, 2015; 86 (09) : p. 973-85 .
• 13 Bourque P.R., Chardon J.W, and Massie R. Autoimmune peripheral neuropathies. Clin Chim Acta, 2015; 449 p. 37-42 .
• 14 Joint Task Force of the European Federation of Neurological Societies / Peripheral Nerve Society,. Guideline on management of multifocal motor neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society – first revision. J Peripher Nerv Syst, 2010; 15 (04) : p. 295-301 .
• 15 Lewis R.A. Chronic inflammatory demyelinating polyneuropathy. Curr Opin Neurol, 2017; 30 (05) : p. 508-512 .
• 16 Nobile-Orazio E. Chronic inflammatory demyelinating polyradiculoneuropathy and variants: where we are and where we should go. J Peripher Nerv Syst, 2014; 19 (01) : p. 2-13 .
• 17 Querol L, and Illa I. Paranodal and other autoantibodies in chronic inflammatory neuropathies. Curr Opin Neurol, 2015; 28 (05) : p. 474-9 .
• 18 Uncini A, and Vallat J.M. Autoimmune nodo-paranodopathies of peripheral nerve: the concept is gaining ground. Neurol Neurosurg Psychiatry 2017; 89 (06) : p. 627-35 .
• 19 Rajabally Y.A., and Attarian S. Chronic inflammatory demyelinating polyneuropathy and malignancy: A systematic review . Muscle Nerve, 2017
• 20 Nobile-Orazio E. et al., Sensitivity and predictive value of anti-GM1 / galactocerebroside IgM antibodies in multifocal motor neuropathy. J Neurol Neurosurg Psychiatry, 2014; 85 (07) : p. 754-8 .
• 21 Koike H, Watanabe H, and Sobue G. The spectrum of immune-mediated autonomic neuropathies: insights from the clinicopathological features. J Neurol Neurosurg Psychiatry, 2013; 84 (01) : p. 98-106 .
• 22 Casseb R.F. et al., Neuroimaging in Sensory Neuronopathy. J Neuroimaging, 2015; 25 (05) : p. 704-9 .
• 23 Collins M.P., Arnold W.D., and Kissel J.T. The neuropathies of vasculitis. Neurol Clin, 2013; 31 (02) : p. 557-95 .
• 24 Gwathmey K.G. et al., Vasculitic neuropathies. Lancet Neurol, 2014; 13 (01) : p. 67-82 .
• 25 Crowell A, and Gwathmey K.G. Sensory Neuronopathies. Curr Neurol Neurosci Rep, 2017; 17 (10) : p. 79 .
• 26 Pareyson D, Saveri P, and Pisciotta C. New developments in Charcot-Marie-Tooth neuropathy and related diseases. Curr Opin Neurol, 2017; 30 (05) : p. 471-480 .
• 27 Pareyson D, and Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol, 2009; 8 (07) : p. 654-67 .
• 28 Murphy S.M. et al., Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry, 2012; 83 (07) : p. 706-10 .
• 29 Rotthier A. et al., Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain, 2009; 132 (Pt 10) : p. 2699-711 .
• 30 Verpoorten N, De Jonghe P, , and Timmerman V. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiol Dis, 2006; 21 (02) : p. 247-55 .
• 31 El-Abassi R, England J.D, and Carter G.T. Charcot-Marie-Tooth disease: an overview of genotypes, phenotypes, and clinical management strategies. PM R, 2014; 6 (04) : p. 342-55 .
• 32 Rudnik-Schoneborn S. et al., Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet, 2016; 89 (01) : p. 34-43 .
• 33 Rossor A.M, Tomaselli P.J, , and Reilly M.M. Recent advances in the genetic neuropathies. Curr Opin Neurol, 2016; 29 (05) : p. 537-48 .
• 34 Tazir M. et al., Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update. J Neurol Sci, 2014; 347 1-2 : p. 14-22 .
• 35 Schlotter-Weigel B, Abicht A. and Lochmüller H. Hereditäre sensomotorische Neuropathien im Kindes- und Jugendalter. Neuropädiatrie in Klinik und Praxis, 2007; 3 p. 103-115