Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma

Objective: We describe three patients from a family with motor and sensory neuropathy accompanied by open-angle glaucoma. Background: Autosomal recess ive demyelinating hereditary motor and sensory neuropathies (HMSN) include different disorders. To our knowledge, autosomal recessive HMSN has not bee n associated with juvenile onset glaucoma. Methods: Sural nerve pathology o f the three patients were examined, and genetic analysis of the family was performed. Result: The most prominent pathologic finding was a highly unusu al myelin abnormality consisting of irregular redundant loops and folding o f the myelin sheath. The family survey supports autosomal recessive inherit ance. The molecular analysis failed to demonstrate either linkage of the di sease to MPZ gene, PMP22 gene, Cx32 gene, or EGR2 gene. Analysis did not es tablish linkage of the disease to the locus of CMT4A, 4B, and 4C genes. Con clusion: The present cases may represent a new type of HMSN accompanied by juvenile onset glaucoma.