Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity

We describe a six generation Saudi kindred, with a recessive hereditary mot or and sensory neuropathy (HMSN). Four individuals were affected including two children (a boy and a girl) and a 23-year-old man. The fourth (a female ) died at the age of 14 years. Onset of the disease was early (<2 years) an d the clinical and neurophysiological features were, generally, quite simil ar to those of an Italian family linked to chromosome 11q23. The peculiar p athologic pattern was irregular and redundant loops associated with folding of the myelin sheaths. The genetic study confirmed linkage to chromosome 1 1q23 and refined the location of the gene between D11S1311 and D11S917, a 3 .3 cM region. These findings support the existence of a homogenous and dist inct entity within the form of HMSN associated with focally folded myelin s heaths. (C) 2000 Elsevier Science B.V. All rights reserved.