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Acta Myol. 2009 July; 28(1): 41–42.
PMCID: PMC2859652

O-5. A wide spectrum of phenotypes in recessive forms of Charcot-Marie-Tooth disorders with known and unknown etiology in Poland

The recessive forms of Charcot-Marie-Tooth disease represent a heterogenous group of disorders of peripheral nervous system. Both autosomal recessive (AR-CMT) and X-linked (XR-CMT) subtypes have been reported. In this study we aimed to characterize a wide spectrum of AR-CMT and XR-CMT phenotypes detected in Polish population. A most common form of AR-CMT we identified in Polish population is CMT4A disease caused by mutations in the GDAP1 gene. In our group of patients CMT4A disease is represented by a spectrum of early onset slowly progressive neuropathies in the young CMT4A affected patients. Some of them are wheelchair bound. In sural nerve biopsy taken from CMT4A affected patients both mixed and axonal neuropathy was observed. The CMT4F phenotype was characterized in a single family in which a wide spectrum of morphological changes was found in sural nerve biopsy. In one AR-CMT family the CCFDN-like phenotype was observed, however no mutations in the CTDP1 and SIL1 genes have been detected. In one family, previously linked to the CMT4B1 locus no mutations in the MTMR2 and GDAP1 genes have been identified. A follow up analysis of this family revealed a marked discrepancy between clinical course of disease between affected male and female (X dominant trait of inheritance). In two CMT families X-linked recessive trait of inheritance was detected. Surprisingly, we have identified numerous recessive CMT families in population of Poland which is characterized by a low ratio of the consanguineous marriages.

Articles from Acta Myologica are provided here courtesy of Pacini Editore