Charcot-marie-tooth: Present situation and prospects [Enfermedad de charcot-marie-tooth: Actualidad perspectivas]

The Charcot-Marie-Tooth disease is defined as a sensory-motor polineurophatic abnormality, of demyelinating or axonal type, and genetic and clinical heterogeneity. Objective: This review is intended to update the clinical spectrum of this disease, as well as to know the molecular and therapeutic advances that contribute to understand and manage better this heterogeneous entity. Development: The Charcot-Marie-Tooth disease is a genetically complex syndrome with more than 30 associated genes; it is one of the more common hereditary neuropathies, whose reports indicate an estimated prevalence of 17-25 cases / 100,000 inhabitants. The clinical spectrum is broad, without an established genotype-phenotype correlation; however, there are a number of clinical features that allow their inclusion in several clinical subtypes. Typically, the patients present with distal muscle weakness and atrophy often associated with foot sensory loss and mild to moderate depression of tendon reflexes. Conclusions: The Charcot-Marie-Tooth classification is complex and constantly subject to a review of new genes and mutations. The observed clinical variability coincides with the involvement of different genes and proteins that help maintain function and integrity of the peripheral nerve, so that they become an important research target for developing new and better therapies. © INNN 2012

Characterization of the 5? and 3? breakpoints of the Spanish (??)0-thalassemia deletion in Mexican patients

The Charcot-Marie-Tooth disease is defined as a sensory-motor polineurophatic abnormality, of demyelinating or axonal type, and genetic and clinical heterogeneity. Objective: This review is intended to update the clinical spectrum of this disease, as well as to know the molecular and therapeutic advances that contribute to understand and manage better this heterogeneous entity. Development: The Charcot-Marie-Tooth disease is a genetically complex syndrome with more than 30 associated genes; it is one of the more common hereditary neuropathies, whose reports indicate an estimated prevalence of 17-25 cases / 100,000 inhabitants. The clinical spectrum is broad, without an established genotype-phenotype correlation; however, there are a number of clinical features that allow their inclusion in several clinical subtypes. Typically, the patients present with distal muscle weakness and atrophy often associated with foot sensory loss and mild to moderate depression of tendon reflexes. Conclusions: The Charcot-Marie-Tooth classification is complex and constantly subject to a review of new genes and mutations. The observed clinical variability coincides with the involvement of different genes and proteins that help maintain function and integrity of the peripheral nerve, so that they become an important research target for developing new and better therapies. " INNN 2012.",,,,,,,,,"http://hdl.handle.net/20.500.12104/40008","http://www.scopus.com/inward/record.url?eid=2-s2.0-84887435229&partnerID=40&md5=4c40cb9231b6f09fa1e175e8b36db5b6",,,,,,"2",,"Archivos de Neurociencias",,"11