Peripheral nerve disorders: pathology and genetics -- Copyright -- Contents -- Preface -- Contributor list -- Abbreviations -- Chapter 1 Clinical assessment and classification of peripheral nerve diseases -- Pathophysiology -- Clinical examination -- Pattern of distribution of nerve involvement -- Medical history -- Clinical presentation -- Examination -- Electrophysiological examination -- Electromyography -- Nerve conduction studies -- Laboratory investigations in peripheral neuropathies -- Clinical classification of peripheral neuropathies -- Indications for nerve biopsy -- Nerve selection -- Indications for and information from nerve biopsy -- References -- Chapter 2 Combined muscle and nerve biopsy -- Introduction -- Technique -- Results -- Vasculitis -- Intra-vascular lymphoma -- Sarcoidosis -- Amyloid polyneuropathies -- Mitochondrial cytopathies -- Storage diseases -- Cholesterol emboli -- References -- Chapter 3 Cutaneous nerve biopsy -- Introduction -- Technique -- Skin biopsy and location -- Tissue preparation -- Quantification of intra-epidermal nerve fiber density -- Results -- Morphology of intra-epidermal and dermal nerve fibers -- Autonomic innervation -- Examples of the diagnostic value of cutaneous nerve biopsy in peripheral nerve disease -- Small fiber neuropathy -- Diabetic neuropathy -- Hereditary neuropathies -- Demyelinating and vasculitic neuropathies -- Nerve regeneration -- Conclusions and recommendations for practical application -- References -- Chapter 4 Methods for examination of peripheral nerve -- General considerations -- Nerve biopsy -- Postmortem examination -- Methods for evaluating nerve biopsies -- Routine histology (paraffin embedding) -- Immunohistochemistry -- Plastic-resin embedding -- Frozen sections for immunofluorescence -- Dissociation of fibers (nerve teasing).

Frozen specimens for molecular analysis -- Electron microscopy -- Quantitative and morphometric analyses -- References -- Chapter 5 Complications from nerve biopsy -- Introduction: My nerve biopsy -- Frequency of complications -- When to perform a nerve biopsy -- Predicting complications -- Reducing complications -- References -- Chapter 6 Anatomy of the peripheral nerve -- Introduction -- Normal anatomy of peripheral nerves -- The nerve trunk -- Axons -- Myelinated nerve fibers -- Unmyelinated axons -- End organs -- Sensory endings -- Variations according to age -- Development -- Age changes -- References -- Chapter 7 Basic pathology of the peripheral nervous system -- Introduction -- Changes in myelin sheaths -- Demyelination and remyelination -- Onion bulb formation -- Disorders characterized by demyelination -- Myelin alterations in axonal disorders -- Hypertrophy of myelin sheaths -- Other characteristic myelin changes -- Alterations of axons -- Wallerian degeneration -- Developmental disturbances of peripheral neurons -- Inherited axonal neuropathies -- Intermediate (axonal and demyelinating) forms of neuropathy -- Alterations of unmyelinated nerve fibers -- Endoneurial connective tissue changes -- Perineurial changes -- Vascular changes -- References -- Chapter 8 Introduction to the hereditary neuropathies -- Chapter 9 Autosomal dominant demyelinating Charcot-Marie-Tooth (CMT1)* neuropathies -- Definition -- Epidemiology -- Clinical features -- Pathology -- Pathological features of CMT1A (duplication of PMP22) -- Pathological features of CMT1B (MPZ mutations) -- Pathological features of CMT1C (LITAF mutations) -- Pathological features of CMT1D (EGR2 mutations) -- Pathological features of CMTIE (PMP22 mutations) -- Pathological features of CMT1F (NEFL mutations) -- Genetics -- CMT type 1A (CMT1A) -- CMT type 1B (CMT1B) -- CMT type 1C (CMT1C).

CMT type 1D (CMT1D) -- CMT type 1E (CMT1E) -- CMT type 1F (CMT1F) -- Other autosomal dominant inherited neuropathies with a CMT1 pattern -- Animal models and future perspectives -- Conclusion -- References -- Chapter 10 Autosomal dominant neuropathy of the axonal Charcot-Marie-Tooth type 2* -- Definition -- General characteristics of CMT2 -- Clinical presentation -- Epidemiology -- General histopathology of CMT2 -- CMT2A (MIM 609260) -- Definition, epidemiology, genetics, and pathogenesis -- Clinical presentation -- Histopathology -- Experimental animals -- CMT2B (MIM 600882) -- Definition, genetics, and pathogenesis -- Clinical presentation -- Histopathology -- CMT2C (MIM 606071) -- Definition, genetics, and pathogenesis -- Clinical presentation -- Histopathology -- CMT2D (MIM 601472) -- Definition, genetics, and epidemiology -- Clinical presentation -- Histopathology -- Animal models -- CMT2E (MIM 607684) -- Definition, genetics, epidemiology, and pathogenesis -- Histopathology -- CMT2F (MIM 606595) -- CMT2G (MIM 608591) -- CMT2H (MIM 607731) -- CMT2I (MIM 607677) -- Definition and genetics -- Histopathology -- CMT2J (MIM 607736) -- Definition, genetics, and clinical characteristics -- Histopathology -- CMT2K (MIM 607831) -- Definition, genetics, and pathogenesis -- Histopathology -- CMT2L (MIM 608673) -- Definition and clinical characteristics -- Genetics and pathogenesis -- Histopathology -- CMT2M (MIM 602378) -- CMT2N (MIM 613287) -- CMT2O (MIM 600112) -- Definition and genetics -- Histopathology -- CMT2P (MIM 610933) -- Definition and genetics -- Histopathology -- HMSN P (MIM 614436) -- Definition and genetics -- Histopathology -- CMT2Q (MIM 615025) -- Definition and genetics -- Histopathology -- Dominant intermediate neuropathy (CMTDIE) associated with focal segmental glomerulosclerosis (MIM 614455) -- References.

Chapter 11 Autosomal recessive demyelinating or axonal Charcot-Marie-Tooth neuropathy* -- Introduction -- General characteristics of AR CMT -- Demyelinating forms of autosomal recessive CMT (CMT4 or AR CMT1) -- CMT4A (AR CMT1A -- MIM 214400) -- CMT4 with focally folded myelin sheaths or CMT4B -- CMT4C (AR CMT1C -- MIM 601596) -- CMT4D (AR CMT1D -- MIM 601455) -- CMT4E (AR CMT1E -- MIM 605253) -- CMT4F (AR CMT1F -- MIM 614895) -- CMT4G (AR CMT1G, HMSN R usse, HMSNR -- MIM 605285) -- CMT4H (AR CMT1H -- MIM 609311) -- CMT4J (ARCMT1J -- MIM 611228) -- Axonal forms of autosomal recessive CMT (AR CMT2) -- AR CMT2A (CMT2B1 -- MIM 605588) -- AR CMT2B (CMT2B2 -- MIM 605589) -- AR CMT2P (MIM 614436) -- AR CMT2R (MIM 615490) -- AR CMT2 with neuromyotonia (ARAN-NM, NMAN -- MIM 137200) -- AR CMT2F (MIM 606595) and other forms with both recessive and dominant occurrence of CMT -- Chapter 12 Dominant and recessive intermediate CMT (CMTDI and CMTRI) -- Definition -- General clinical characteristics of intermediate CMT -- Dominant intermediate CMT type A (CMTDIA -- DI-CMTA -- MIM 606483) -- Dominant intermediate CMT type B (CMTDIB -- DI-CMTB -- MIM 606483) -- allelic with CMT2M -- Definition, genetics, and pathogenesis -- Clinical presentation -- Histopathology -- CMT2M -- Animal models -- Dominant intermediate CMT type C (CMTDIC -- DI-CMTC -- MIM 603623) -- Definition, clinical presentation, genetics, and pathogenesis -- Histopathology -- Animal model -- Dominant intermediate CMT type D (CMTDID -- DI-CMTD -- MIM 607792) -- Dominant intermediate CMT type E (CMTDIE -- DI-CMTE -- MIM 614455) -- Definition and genetics -- Clinical presentation and epidemiology -- Histopathology -- Dominant intermediate CMT type F (CMTDIF -- DI-CMTF -- MIM 615185) -- Definition, genetics, and pathogenesis -- Clinical presentation -- Histopathology.

Recessive intermediate CMT type A (CMTRIA -- RI-CMTA -- MIM 608340) -- Definition, clinical presentation, genetics, and pathogenesis -- Histopathology -- Recessive intermediate CMT type B (CMTRIB -- RI-CMTB -- MIM 613641) -- Recessive intermediate CMT type C (CMTRIB -- RI-CMTC -- MIM 615376) -- Definition, clinical presentation, and genetics -- Pathogenesis and animal model -- Histopathology -- Miscellaneous -- NEFL -- MFN2 -- Connexin 32/GJB1 -- ARHGEF10 -- References -- Chapter 13 X-linked neuropathy of the Charcot-Marie-Tooth type* -- Introduction -- CMTX1= HMSN X1(MIM304040) -- Clinical aspects -- Genetics -- Histopathology -- Experimental models -- Pathogenesis -- Conclusions -- CMTX2(MIM302801) and CMTX3(MIM 302802) -- Clinical aspects -- Genetics -- Histopathology -- CMTX4(MIM310490) -- Synonyms -- Clinical aspects -- Genetics -- Histopathology -- CMTX5(MIM311070) -- Clinical aspects -- Histopathology -- CMTX6(MIM300905) -- Clinical aspects -- Histopathology -- Differential diagnosis -- References -- Chapter 14 Hereditary sensory and autonomic neuropathy -- Introduction and historical perspective -- HSAN 1 (HSN 1) -- Clinical -- Genetics -- Pathology -- HSAN II -- Clinical -- Genetic -- Pathology -- HSAN III -- Clinical -- Genetic -- Pathology -- HSAN IV -- Clinical -- Genetic -- Pathology -- HSAN V -- Clinical -- Genetic -- Pathology -- HSAN with spastic paraplegia -- Clinical -- Genetic -- Pathology -- Channelopathy associated with insensitivity to pain -- Clinical -- Genetic -- Pathology -- Animal models -- Conclusions and future perspectives -- References -- Chapter 15 Hereditary neuropathy with liability to pressure palsy -- Definition of the disorder, major synonyms, and historical perspective -- Epidemiology -- Clinical features and investigations -- Clinical -- Electrophysiology -- Pathology -- Genetics.

Pathogenesis and animal models.