Collado-Corona MA

Idioma: Español
Referencias bibliográficas: 8
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FRAGMENTO

Existen numerosas formas de neuropatía hereditaria. El esquema de clasificación más empleado es el de Dick, el cual las divide en sensorimotoras (HMSN) y sensoriautonómicas (HSAN) y numera los subtipos. Los síndromes sensorimotores se conocen como enfermedad de Charcot-Marie-Tooth y tienen varios subtipos, los más frecuentes son el 1 y el 2.

REFERENCIAS (EN ESTE ARTÍCULO)

1. Lambert EH. Electromyography and electric stimulation of pheripheral nerves and muscle. In: Clinical examinations in neurology. 4th ed. Philadelphia, USA: Dept. Neurology and Biophysics, Mayo Clinic and Mayo Foundation/WB Saunders; 1956. pp. 298-329.

2. Jones SJ, Carroll WM, Halliday AM. Peripheral and central sensory nerve conduction in Charcot-Marie-Tooth disease and comparison with Friedreich’s ataxia. J Neurol Sci 1983;61:135-248.

3. Kimura J. F-wave velocity in the central segment of the median and ulnar nerves: A study in normal subjects and in patients with Charcot-Marie-Tooth disease. Neurology 1974;24:539-546.

4. Kimura J. An evaluation of the facial and trigeminal nerves in polineuropathy: Electrodiagnostic study in Charcot-Marie-Tooth disease, Guillain-Barre syndrome, and diabetic neuropathy. Neurology 1971; 21:745-752.

5. Sevilla-Mantecón T, Vilchez-Padilla J. Different phenotypes of Charcot-Marie-Tooth disease caused by mutations in the same gene. Are classical criteria for clasification still valid? Neurologia 2004;19(5): 264-271.

6. Runker AE, Kobsar I, Fink T, Loers G, Tilling T, et. al. Pathology of a mouse mutation in peripheral myelin protein P0: characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder. J Cell Biol 2004;165(4):565-573.

7. Fabrizi GM, Cavallaro T, Angiari C, Bertalozi L, Cabrini I, Ferrarini M, Rizzuto N. Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2. Neurology 2004;62(8):1429-1431.

8. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968;18:619-625.