Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.

Sixty-seven patients in 29 families with the diagnosis of Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy in northern Sweden were examined by pedigree and DNA analysis for the CMT1a duplication within chromosome 17p11.2. There were 39 patients in nine families with Charcot-Marie-Tooth type 1 and autosomal dominant inheritance and in all these cases the duplication was seen. In six patients in three families with Charcot-Marie-Tooth type 1 the pedigrees strongly suggested autosomal recessive inheritance. In two patients DNA analysis was not informative but in the others no duplication was shown. There were also 11 "sporadic" patients and one pair of sibs classified as Charcot-Marie-Tooth type 1, but there was no duplication shown although in four patients DNA analysis was not informative. In nine patients with Charcot-Marie-Tooth type 2 from five families and in 13 unaffected relatives of Charcot-Marie-Tooth patients the CMT1a duplication was not found.