Table of Contents. 1 Architecture of the peripheral nerve P. Young, M. Boentert

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1 Table of Contents z General part 1 Architecture of the peripheral nerve... 3 P. Young, M. Boentert Introduction Cellular components of the PNS Architecture of the myelin compartment The internode The node of Ranvier The paranodal region The juxtaparanodal region Unmyelinated nerve fibers... 9 References z Approach to the patient with suspected hereditary neuropathy 2 Clinical evaluation and differential diagnosis R. Kiefer, E. B. Ringelstein Introduction General approach to the patient with peripheral neuropathy Specific features in the history of patients with hereditary neuropathies Chief complaint and functional deficits noted bythepatient Onset and time course of disease Concomitant diseases Family history Specific features in the clinical examination of patients with suspected hereditary neuropathy... 22

2 VIII z Table of Contents Neurological examination General examination Differential diagnosis in patients with suspected hereditary neuropathy Distal symmetric leg weakness with peroneal preponderance Pes cavus and hammertoes The HNPP phenotype The HNA phenotype Pain and the sensory abnormalities of HSAN Nerve hypertrophy References Electrodiagnostic evaluation of hereditary polyneuropathies M. Müller 3.1 General considerations Electrodiagnostic evaluation of hereditary polyneuropathies Electrodiagnostic features and differential diagnosis of different forms of hereditary polyneuropathies Charcot-Marie-Tooth disease type 1 and 4 (CMT1/CMT4) Charcot-Marie-Tooth disease type 2 (CMT2) Dominant intermediate CMT (DI-CMT) Charcot-Marie-Tooth disease X chromosomal (CMTX) Déjerine-Sottas syndrome (DSS) Congenital hypomyelination (CH) Hereditary motor neuropathies (dhmn) Hereditary sensory and autonomic neuropathies (HSAN)/hereditary sensory neuropathies (HSN) Hereditary neuropathy with liability to pressure palsy (HNPP) Hereditary neuralgic amyotrophy (HNA) Giant axonal neuropathy (GAN) References... 38

3 Table of Contents z IX 4 Principles of pathology and nerve biopsy A. Schenone Introduction Charcot-Marie-Tooth disease type 1 (CMT1) Charcot-Marie-Tooth disease type 1A (CMT1A) Charcot-Marie-Tooth disease type 1B (CMT1B) Charcot-Marie-Tooth disease type 1C (CMT1C) Charcot-Marie-Tooth disease type 1D (CMT1D) Déjerine-Sottas syndrome (DSS) Congenital hypomyelination (CH) Hereditary neuropathy with liability to pressure palsy (HNPP) Charcot-Marie-Tooth disease type 4 (CMT4) Charcot-Marie-Tooth disease type 4A (CMT4A) Charcot-Marie-Tooth disease type 4B1 and 4B2 (CMT4B1, CMT4B2) Charcot-Marie-Tooth disease type 4C (CMT4C) Charcot-Marie-Tooth disease type 4D (CMT4D) Charcot-Marie-Tooth disease type 4E (CMT4E) Charcot-Marie-Tooth disease type 4F (CMT4F) X-linked Charcot-Marie-Tooth disease (CMTX) Charcot-Marie-Tooth disease type 2 (CMT2) Hereditary sensory and autonomic neuropathies (HSAN) Hereditary sensory and autonomic neuropathy type 1 (HSAN1) Hereditary sensory and autonomic neuropathy type 2 (HSAN2) Hereditary sensory and autonomic neuropathy type 3 (HSAN3)... 61

4 X z Table of Contents Hereditary sensory and autonomic neuropathy type 4 and 5 (HSAN4 and HSAN5) Hereditary motor neuropathies (HMN) Giant axonal neuropathy (GAN) Hereditary neuralgic amyotrophy (HNA).. 63 References z Specific neuropathies, treatment and counseling 5 Overview of the classification and genetics of hereditary peripheral neuropathies and rare unclassified forms G. Kuhlenbäumer 5.1 History Clinical and electrophysiological phenotype of hereditary motor and sensory neuropathies (HMSNs) Classification of hereditary neuropathies The HMSN classification by Dyck, Chance, LambertandCarney Classification of primary hereditary neuropathies according to clinical subgroups and genetic entities Rare forms of hereditary peripheral neuropathies which do not fit into the current classification schemes Giant axonal neuropathy gigaxonin (GAN) (OMIM ) Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) or Anderman syndrome or hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) solute carrier family 12 member 6 gene (SLC12A6 coding for the protein: KCC3) (OMIM )... 86

5 Table of Contents z XI Congenital hypomyelinating neuropathy, central dysmyelination and intestinal (pseudo) obstruction (Waardenburg-Hirschsprung disease) SRY like box 10 transcription factor (SOX10) (OMIM ) Hereditary peripheral neuropathy and deafness gap junction protein 3 (GJB3 or connexin31) Minifascicular peripheral neuropathy, partial gonadal dysgenesis desert hedgehog (DHH) (OMIM ) References Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsy (HNPP) E. Nelis, P. de Jonghe, V. Timmerman 6.1 Autosomal dominant CMT1 and HNPP Clinical features Electrodiagnostic and laboratory features Pathological features Genetics and pathomechanism Autosomal recessive demyelinating CMT or CMT Clinical features Electrodiagnostic features Pathological features Genetics and pathomechanism References CMT2, dominant intermediate CMT and CMTX M.C. Hannibal, P.F. Chance Introduction Charcot-Marie-Tooth neuropathy type Autosomal dominant CMT Autosomal recessive CMT DI-CMT: dominant intermediate Charcot-Marie-Tooth neuropathy DI-CMTA chromosome 10q24.1-q25.1 (OMIM or CMTDIA) DI-CMTB chromosome 19p12-p13.2 (OMIM or CMTDIB)

6 XII z Table of Contents DI-CMTC chromosome 1p34-p35 (OMIM , CMTDIC) DI-CMTD myelin protein zero (MPZ) (OMIM , CMTDID) DI-slowed nerve conduction velocities without Charcot-Marie-Tooth neuropathy rho guanine nucleotide exchange factor 10 gene (ARHGEF10) (OMIM , slowed nerve conduction velocities, autosomal dominant) HMSN-P chromosome 3p14.1-q13 (OMIM , HMSNO or Okinawa type) CMTX: Charcot-Marie-Tooth neuropathy, X-linked types CMTX1 gap junction protein beta 1 gene (GJB1, formerly connexin 32 (Cx32) (OMIM ) CMTX2 chromosome Xp22.2 (OMIM ) CMTX3 chromosome Xq26 (OMIM ) CMTX4 chromosome Xq (OMIM , Cowchock syndrome or neuropathy, axonal motor-sensory with deafness and mental retardation, NAMSD) References Distal hereditary motor neuropathies (dhmn) F. Stögbauer, G. Kuhlenbäumer Introduction dhmn I small heat shock protein 27 (HSP27 or HSBP1) (OMIM ) dhmn II small heat shock protein 22 (HSP22 or HSBP8) (OMIM ) dhmn III chromosomal location unknown dhmn IV chromosome 11q13 (OMIM ) dhmn V a and b Va: glycyl trna synthetase gene (GARS) (OMIM ) Vb: Berardinelli Seip congenital muscular dystrophy gene (BSCL2) (OMIM ) dhmn VI immunoglobulin l-binding protein 2 (IGHMBP2) (OMIM )

7 Table of Contents z XIII 8.7 dhmn VIIa chromosome 2q14 (OMIM ) dhmn VIIb dynactin (DCTN) (OMIM ) dhmn pyramidal/amyotrophic lateral sclerosis 4 (ALS4), senataxin (SETX) (OMIM ) dhmn Jerash type chromosome 9p21.1-p12 (OMIM ) References Hereditary sensory and autonomic neuropathies (HSAN) P. De Jonghe, G. Kuhlenbäumer Introduction Assessment of HSANs with autonomic and neurophysiological examinations Quantitative testing of thermal perception Histamine axonal flare test Forms of HSAN HSAN1/HSN I serine palmitoyltransferase 1, long chain subunit 1 gene (SPTLC1) (OMIM ) HSAN2 hereditary sensory neuropathy II gene (HSN2) (OMIM ) HSAN3 (Syn: familial dysautonomia, Riley- Day syndrome) inhibitor of kappa light polypeptide gene (IKBKAP, protein IKAP) HSAN4 neurotrophin receptor tyrosine kinase 1 gene (NTRK1) (OMIM ) HSAN5 in some cases: nerve growth factor beta (NGFB), neurotrophin receptor tyrosine kinase 1 gene (NTRK1) (OMIM ) References Hereditary neuralgic amyotrophy (HNA) G. Kuhlenbäumer 10.1 Clinical features Classical remitting-relapsing HNA Chronic undulating HNA Sporadic brachial plexus neuropathy (sbpn) (also called idiopathic brachial plexus neuritis, Parsonage-Turner syndrome)

8 XIV z Table of Contents 10.2 Electrodiagnostic, laboratory and additional investigatons Pathologic features Genetics and pathomechanism References Molecular genetic diagnosis of hereditary neuropathies G. Kuhlenbäumer 11.1 Molecular genetic testing strategies Molecular genetic tests Methods for the detection of the chromosome CMT1A duplication/hnpp deletion Mutation detection methods for other genetic defects causing hereditary neuropathies References Genetic counseling M. Hoeltzenbein Introduction Definition of genetic counseling and consequences Course and general principles of genetic counseling Diagnostic/molecular testing Predictive testing of late-onset disorders Prenatal testing Preimplantation diagnostics Special issues of genetic counseling References Medical treatment of hereditary neuropathies P. Young Introduction Causative therapy Genetic treatment Prevention of axonal degeneration Symptomatic therapy Neuropathic pain Autonomic dysfunction

9 Table of Contents z XV Surgery of foot deformities References Orthopedic aspects in diagnosis, clinical management and therapy of CMT patients R. Forst, A. Ingenhorst Introduction Upper extremities Spine Hip joint Knee joint Ankle joint and foot Clinical basics Pathogenesis of the deformities Special diagnostic tests Therapy Fractures References Animal models of hereditary neuropathies P. Young, U. Sueter Introduction Models for demyelinating CMT1A: peripheral myelin protein 22 (pmp22) pmp22 transgenic rats pmp22 transgenic mice Inducible pmp22 transgenic mice pmp22 knockout mice Mice carrying point mutations in pmp22: trembler, trembler J, Tr-m1H, Tr-m2H Models for demyelinating CMT1B: myelin protein zero (mpz) knockout mice Models for demyelinating and axonal CMTX: gap-junction-protein beta 1 (gjb1) knockout mice Model for demyelinating CMT4F: periaxin (prx) knockout mice Model for axonal CMT2A2: kinesin motor protein 1 beta (kif1b) knockout mice Model for axonal CMT2E: neurofilament light chain (nefl) knockout mice

10 XVI z Table of Contents 15.7 Model for recessive CMT4C1: lamin A/C (lmna) knockout mice Conclusions References Appendix: genetic testing laboratories and support groups G. Hünermund Subject Index

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