‘Hereditary Peripheral Neuropathies’ deals with the Charcot-Marie-Tooth group of neuropathies and related primary hereditary neuropathies. The knowledge in this field has grown exponentially during the last ten years. The book is divided into two sections. The first section deals with the clinical presentation, electrophysiological features and differential diagnosis of these disorders as well as with the general biology of the peripheral nerve. The second section gives a detailed account of the known disease entities. The book will be interesting for both the clinician with a special interest in PNS diseases as well as for the researcher.
Tabella dei contenuti
Architecture of the peripheral nerve.- Clinical evaluation and differential diagnosis.- Elecrodiagnostic evaluation of hereditary polyneuropaties.- Principles of pathology and nerve biopsy.- Overview of the classification and genetics of hereditary peripheral neuropathies and rare unclassified forms.- Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsy (HNPP).- CMT2, dominant intermediate CMT and CMTX.- Distal hereditary motor neuropathies (d HMN).- Hereditary sensory and autonomic neuropathies (HSAN).- Hereditary neuralgic amyotrophy (HNA).- Molecular genetic diagnosis of hereditary neuropathies.- Genetic counseling.- Medical treatment of hereditary neuropathies.- Orthopedic aspects in diagnosis, clinical management and therapy of CMT patients.- Animal models of hereditary neuropathies.
Circa l’autore
Dr. G. Kuhlenb?mer, PD Dr. F. St?bauer, Dr. P. Young, Prof. Dr. E.B. Ringelstein, Dep. of Neurology, University of Muenster, Germany
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