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PROGRESS IN CLINICAL NEUROSCIENCES: CHARCOT‐MARIE‐TOOTH DISEASE AND RELATED INHERITED PERIPHERAL NEUROPATHIES
Author(s) -
Benstead TJ,
Grant IA.
Publication year - 2002
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1046/j.1529-8027.2002.2008_6.x
Subject(s) - tooth disease , disease , medicine , pathological , neuroscience , genetic testing , bioinformatics , pathology , psychology , biology
The classification of Charcot‐Marie‐Tooth disease and related hereditary motor and sensory neuropathies has evolved to incorporate clinical, electrophysiological and burgeoning molecular genetic information that characterize the many disorders. For several inherited neuropathies, the gene product abnormality is known and for others, candidate genes have been identified. Genetic testing can pinpoint a specific inherited neuropathy for many patients. However, clinical and electrophysiological assessments continue to be essential tools for diagnosis and management of this disease group. This article reviews clinical, electrophysiological, pathological and molecular aspects of hereditary motor and sensory neuropathies.