Autosomal recessive forms of Charcot-Marie-Tooth disease (CMT) account for less 
than 10 % of all CMT cases, but are more frequent in the populations with a high 
rate of consanguinity. Roma (Gypsies) are a transnational minority with an 
estimated population of 10 to 14 million, in which a high degree of 
consanguineous marriages is a generally known fact. Similar to the other 
genetically isolated founder populations, the Roma harbour a number of unique or 
rare autosomal recessive disorders, caused by "private" founder mutations. There 
are three subtypes of autosomal recessive CMT with mutations private to the Roma 
population: CMT4C, CMT4D and CMT4G. We report on the molecular examination of 
four families of Roma origin in Slovakia with early-onset demyelinating 
neuropathy and autosomal recessive inheritance. We detected mutation p.R148X 
(g.631C>T) in the NDRG1 (NM_006096.3) gene in two families and mutation 
g.9712G>C in the HK1 (NM_033498) gene in the other two families. These mutations 
cause CMT4D and CMT4G, respectively. The success of molecular genetic analysis 
in all families confirms that autosomal recessive forms of CMT caused by 
mutations on the NDRG1 and HK1 genes are common causes of inherited neuropathies 
among Slovak Roma. Providing genetic analysis of these genes for patients with 
Roma origin as a common part of diagnostic procedure would contribute to a 
better rate of diagnosed cases of demyelinating neuropathy in Slovakia and in 
other countries with a Roma minority.