Avtor/Urednik		Leonardis, Lea; Zidar, Janez; Peterlin, Borut
Naslov		Bolezen Charcot-Marie-Tooth
Prevedeni naslov		Charcot-Marie-Tooth disease
Tip		članek
Vir		Zdrav Vestn
Vol. in št.		Letnik 72, št. 9
Leto izdaje		2003
Obseg		str. 519-26
Jezik		slo
Abstrakt		Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic studies. CMT is classified as demyelinative and axonal type and distal motor neuronopathy. Conclusions. CMT can be of autosomal dominant, recessive and X-linked inheritance. The most frequent form of CMT is the result of the dominantly inherited duplication of chromosome 17p11.2 and is marked as CMT1A. The same group involves also rare patients with point mutation in the peripheral myelin protein-22 gene. CMTIB is associated with point mutations in protein zero gene. CMTI C is linked to chromosome IGp13.1-12.,3. Patients with point mutations in early growth response 2 gene (EGR2) are included in group CMT1D. The disease can be also inhereted X-linked (CMTX) with the mutations in connexin-32 gene. In autosomal recessive inherited demyelinating polyneuropathies (CMT4), mutations are found in the myotubularin-related protein-2 (CMT4B), N-myc downstream-regulated gene 1 (CMT4D), EGR2 (CMT4E), and in theperiaksin (CMT4F)genes. In axonal inherited neuropathy, mutations are found in KIFI beta (CMT2A) and in light neurofilament (CMT2E) genes, other forms map to different chromosomal loci (CMT2B, CMT2D, CMT2F). Some suggestions for the diagnostic procedures of patients with CMT are given.
Izvleček		Izhodišča. Bolezen Charcot-Marie-Tooth (CMT) je pogosta dedna bolezen perifernega živčevja. Ima več oblik z značilno klinično sliko, elektrofiziološkimi značilnostmi in genetsko napako. V osnovi jih delimo na demielinizacijske (CMTI, CMT4) in aksonske (CMT2) ter na distalno motorično nevronopatijo. Zaključki. CMT se deduje avtosomsko dominantno, recesivno ali vezano na spolni kromosom X. Najpogosteje je posledica dominantno prenesene podvojitve kromosomskega odseka 17p11.2 in to obliko označujemo s CMT1A. V isto skupino sodijo še redkejše točkovne mutacije v genu za periferni mielinski protein-22. CMTIB je povezana s točkastimi mutacijami v genu protein nič. CMT1C je vezana na kromosomski odsek 16p13.1-12.3. Točkaste mutacije v genu za faktor zgodnje rasti 2 (EGR2) uvrščamo v skupino CMT1D. Bolezen CMT je vezana tudi na kromosom X (CMTX), kjer se nahaja gen koneksin-32. Pri recesivno dednih demielinizacijskih oblikah (CMT4) je znana mutacija v genu za miotubularinu sorodni protein-2 (CMT4B), v genu N-myc navzdol urejani gen Z (CMT4D), v genu EGR2 (CMT4E), in genu za periaksin (CMT4F). Pri aksonskih oblikah so pri CMT2A odkrili mutacije v genu KIF1 beta, pri CMT2E so mutacije v genu za lahki nevrofilament (NF-L), pri ostalih treh oblikah (CMT2B, CMT2D, CMT2F) so znana le mesta kromosomske okvare. V zaključku članka so kratke smernice za diagnostiko pri bolniku s CMT.
Deskriptorji		CHARCOT-MARIE DISEASE PHENOTYPE POINT MUTATION DEMYELINATING DISEASES NEUROPATHIES, HEREDITARY MOTOR AND SENSORY AXONS