DÄ internationalArchiveReferences

Review article

Hereditary Neuropathies

Dtsch Arztebl Int 2018; 115: 91-7. DOI: 10.3238/arztebl.2018.0091

Eggermann, K; Gess, B; Häusler, M; Weis, J; Hahn, A; Kurth, I

1.Fridman V, Bundy B, Reilly MM, et al.: CMT subtypes and disease burden in patients enrolled in the inherited neuropathies consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry 2015; 86: 873–8 CrossRef MEDLINE PubMed Central
2.Baets J, De Jonghe P, Timmerman V: Recent advances in Charcot-Marie-Tooth disease. Curr Opin Neurol 2014; 27: 532–40 CrossRef MEDLINE
3. Timmerman V, Strickland AV, Zuchner S: Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success. Genes (Basel) 2014; 5: 13–32 CrossRef MEDLINE PubMed Central
4.Werheid F, Azzedine H, Zwerenz E, et al.: Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? Brain Behav 2016; 6: e00451 CrossRef MEDLINE PubMed Central
5.Rotthier A, Baets J, Timmerman V, Janssens K: Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol 2012; 8: 73–85 CrossRef MEDLINE
6.Mellgren SI, Nolano M, Sommer C: The cutaneous nerve biopsy: technical aspects, indications, and contribution. Handb Clin Neurol 2013; 115: 171–88 CrossRef MEDLINE
7.Dyck PJ, Thomas PK (eds.): Peripheral neuropathy. 4th ed. Philadelphia: Saunders 2005.
8.Grimm A, Vittore D, Schubert V, et al.: Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies. Clin Neurophysiol 2016; 127: 2618–24 CrossRef CrossRef MEDLINE
9.Loewenbruck KF, Dittrich M, Bohm J, et al.: Diagnostic accuracy of nerve ultrasound in hereditary and sporadic non-entrapment neuropathies. J Neurol 2016; 263: 2196–206 CrossRef MEDLINE
10.Morrow JM, Sinclair CD, Fischmann A, et al.: MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. Lancet Neurol 2016; 15: 65–77 CrossRef
11.Sommer CL, Brandner S, Dyck PJ, et al.: Peripheral Nerve Society guideline on processing and evaluation of nerve biopsies. J Peripher Nerv Syst 2010; 15: 164–75 CrossRef MEDLINE
12.Weis J, Brandner S, Lammens M, Sommer C, Vallat JM: Processing of nerve biopsies: a practical guide for neuropathologists. Clin Neuropathol 2012; 31: 7–23 CrossRef PubMed Central
13.Baets J, Deconinck T, De Vriendt E, et al.: Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain 2011; 134: 2664–76 CrossRef MEDLINE PubMed Central
14.Tazir M, Bellatache M, Nouioua S, Vallat JM: Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. J Peripher Nerv Syst 2013; 18: 113–29 CrossRef MEDLINE
15.Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME: Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011; 69: 22–33 CrossRef MEDLINE PubMed Central
16.Rudnik-Schoneborn S, Tolle D, Senderek J, 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: 34–43 CrossRef MEDLINE
17.Tomaselli PJ, Rossor AM, Horga A, et al.: Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT. Neurology 2017; 88: 1445–53 CrossRef MEDLINE PubMed Central
18. Hoeijmakers JG, Faber CG, Lauria G, Merkies IS, Waxman SG: Small-fibre neuropathies—advances in diagnosis, pathophysiology and management. Nat Rev Neurol 2012; 8: 369–79 CrossRef MEDLINE
19.Kurth I: [Sensory and autonomic neuropathies and pain-related channelopathies]. Schmerz 2015; 29: 445–57 CrossRef MEDLINE
20.Bansagi B, Griffin H, Whittaker RG, et al.: Genetic heterogeneity of motor neuropathies. Neurology 2017; 88: 1226–34 CrossRef MEDLINE PubMed Central
21.Rudnik-Schoneborn S, Auer-Grumbach M, Senderek J: Hereditary neuropathies: update 2017. Neuropediatrics 2017; 48: 282–9 CrossRef MEDLINE
22.Rossor AM, Polke JM, Houlden H, Reilly MM: Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 2013; 9: 562–71 CrossRef MEDLINE
23.Wang W, Wang C, Dawson DB, et al.: Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology 2016; 86: 1762–71 CrossRef MEDLINE PubMed Central
24.Antoniadi T, Buxton C, Dennis G, et al.: Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. BMC Med Genet 2015; 16: 84 CrossRef MEDLINE PubMed Central
25.Gess B, Schirmacher A, Boentert M, Young P: Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population. Neuromuscul Disord 2013; 23: 647–51 CrossRef MEDLINE
26.Bird TD: Charcot-Marie-Tooth neuropathy type 4. In: Pagon RA, Adam MP, Ardinger HH, et al. (eds.): GeneReviews. Seattle (WA) 1993.
27.Wilmshurst JM, Ouvrier R: Hereditary peripheral neuropathies of childhood: an overview for clinicians. Neuromuscul Disord 2011; 21: 763–75 CrossRef MEDLINE
28. Kalia SS, Adelman K, Bale SJ, et al.: Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 2017; 19: 249–55 CrossRef MEDLINE
29.Weis J, Claeys KG, Roos A, et al.: Towards a functional pathology of hereditary neuropathies. Acta Neuropathol 2017; 133: 493–515 CrossRef MEDLINE
30.Hayasaka K, Himoro M, Sato W, et al.: Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 1993; 5: 31–4 CrossRef MEDLINE
31.Kleffner I, Schirmacher A, Gess B, Boentert M, Young P: Four novel mutations of the myelin protein zero gene presenting as a mild and late-onset polyneuropathy. J Neurol 2010; 257: 1864–8 CrossRef MEDLINE
32.Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F: Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 1998; 50: 1397–401 CrossRef
33.Hubner CA, Kurth I: Membrane-shaping disorders: a common pathway in axon degeneration. Brain 2014; 137: 3109–21 CrossRef MEDLINE
34.Timmerman V, Clowes VE, Reid E: Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias. Exp Neurol 2013; 246: 14–25 CrossRef MEDLINE
35.Jungbluth H, Wallgren-Pettersson C, Laporte J: Centronuclear (myotubular) myopathy. Orphanet J Rare Dis 2008; 3: 26 CrossRef MEDLINE PubMed Central
36.Chow CY, Landers JE, Bergren SK, et al.: Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 2009; 84: 85–8 CrossRef MEDLINE PubMed Central
37.Chow CY, Zhang Y, Dowling JJ, et al.: Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 2007; 448: 68–72 CrossRef MEDLINE PubMed Central
38.Harel T, Lupski JR: Charcot-Marie-Tooth disease and pathways to molecular based therapies. Clin Genet 2014; 86: 422–31 CrossRef MEDLINE
39.Garofalo K, Penno A, Schmidt BP, et al.: Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J Clin Invest 2011; 121: 4735–45 CrossRef MEDLINE PubMed Central
40.Gonzaga-Jauregui C, Harel T, Gambin T, et al.: Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Rep 2015; 12: 1169–83 CrossRef MEDLINE PubMed Central
e1.Sommer C, Geber C, Young P, Forst R, Birklein F, Schoser B: Polyneuropathies—etiology, diagnosis, and treatment options. Dtsch Arztebl Int 2018; 115: 83–90. VOLLTEXT
e2.Deutsche Gesellschaft für Humangenetik: Stellungnahme der Deutschen Gesellschaft für Humangenetik zu genetischen Zusatzbefunden in Diagnostik und Forschung. 2013. www.gfhev.de/de/leitlinien/LL_und_Stellungnahmen/2013_05_28_Stellungnahme_zu_genetischen_Zufallsbefunden.pdf (last accessed on 1 December 2017).