Molekulárně genetická a klinicko-neurologická vyšetření u autozomálně recesivních forem dědičných neropatií Charcot-Marie-Tooth
The Charcot-Marie-Tooth (CMT) diseases are the most common inherited neuropathies. CMT is characterized clinically by distal muscle wasting and weakness, reduced reflexes and impaired distal sensation and by a sensory motor neuropathy neurophysiologically. The severity of the disease varies enormous...
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| Format: | Doctoral Thesis |
| Language: | Czech |
| Published: |
2010
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| Online Access: | http://www.nusl.cz/ntk/nusl-297329 |
| Summary: | The Charcot-Marie-Tooth (CMT) diseases are the most common inherited neuropathies. CMT is characterized clinically by distal muscle wasting and weakness, reduced reflexes and impaired distal sensation and by a sensory motor neuropathy neurophysiologically. The severity of the disease varies enormously depending to a large extent on the underlying genetic defect. The current clinical classification of CMT is done using electrophysiological criteria into type 1 (demyelinating) and type 2 (axonal) and further sub-classification is done according to inheritance pattern. A solely genetic classsification is not possible at present as all the causative genes for CMT are not known. Autosomal recessive CMT (AR CMT) forms are rare in European populations. The responsible genes have been discovered just in recent years. The disease has usually early onset and fast progressing and severe course. Mutations in GDAP1 gene (ganglioside- induced differentation associated proteine-1) soon showed to be the most common cause of CMT in families with AR pedigrees. They were found in patients with demyelinating (CMT4A) as well as axonal (CMT4C4) CMT. Common GDAP1 mutations are consquence of founder effect. Mutations in PRX (periaxin) gene are responsible for demyelinating CMT type (CMT4F). Approximately in a half of the CMT... |
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