Autosomal-recessive Charcot-Marie-Tooth diseases.
In certain countries around the Mediterranean basin such as Algeria, which have a high prevalence of consanguineous marriages, autosomal-recessive (AR) inheritance may account for more than 50% of all forms of Charcot-Marie-Tooth (CMT) disease. Like with the dominant forms, it is usual to differentiate the demyelinating forms (CMT 4 corresponding to autosomal-recessive CMT 1 [AR-CMT 1] from the axonal forms [AR-CMT 2]). Genetic analysis of large families with recessive transmission has uncovered novel CMT genotypes (genes: GDAP 1, MTMR 2, MTMR 13, KIAA1985, NDGR1, periaxi, lamin). The clinical and especially the histologic phenotypes often indicate that a specific gene is implicated. We present and discuss microscopic lesions seen on nerve biopsies from patients in a number of consanguineous Algerian families, and we outline the characteristic lesions that would prompt a search for mutations in genes such as MTMR 2, MTMR 13, KIAA1985, periaxin for CMT 4, and lamin for AR-CMT 2. Like with the dominant forms, there are undoubtedly many more mutations of other genes to be discovered.
Vallat
Jean-Michel
JM
Neurology Department, University Hospital, 2 Avenue Martin Luther King, 87042 Limoges, France. vallat@unilim.fr
Tazir
Meriem
M
Magdelaine
Corinne
C
Sturtz
Franck
F
Grid
Djamel
D
D002607:Charcot-Marie-Tooth Disease / Q000145:classification* / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D003711:Demyelinating Diseases / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D009186:Myelin Sheath / Q000473:pathology / Q000648:ultrastructure