[Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene].

We reported two families of Charcot-Marie-Tooth disease (CMT) with Thr124Met mutation in the peripheral myelin protein zero (MPZ). The clinical features of the proband patients of both families showed Adie's pupil, severe sensory dominant neuropathy in lower extremities, and axonal changes in sural nerve biopsies and nerve conduction studies. Muscle atrophy and weakness was mild in the lower legs, while sensory impairment was marked. The proband patient of family 1 had four symptomatic siblings and one of them showed Adie's pupil. The elderly daughter of the proband of family 2 showed Adie's pupil and younger daughter showed photophobia. The biopsied sural nerves of both proband patients revealed prominent axonal sprouting, and sub-perineurial edema and mild fascicular enlargement. Segmental demyelination was not frequent in teased fiber assessment. The present two family cases strongly suggest that this MPZ gene mutation (Thr124Met) could be present among the patients with CMT type 2, axonal form. Furthermore, the patients showing sensory neuropathy and Adie's pupil may need to be reexamined with this mutation. It is also necessary to reassess genotype-phenotype correlation in CMT patients particularly in reference to type 1 and type 2.

An evaluation of nutritional status of vitamin E in pregnant women with respect to red blood cell tocopherol level.

Changes in RBC tocopherol level as an index for vitamin E status were studied in relation to plasma levels of tocopherol and lipids during pregnancy. Plasma tocopherol levels increased gradually and significantly during gestation. The changes depended on changes in total lipids in plasma, of which an increase in triglycerides was most predominant. A similar increase was shown in beta-lipoprotein levels, while HDL-cholesterol did not show any significant change. The ratio of plasma tocopherol to plasma total lipids, proposed as the best index for vitamin E status by Horwitt, remained unchanged during gestation, while RBC tocopherol levels somewhat decreased during the last trimester. The result indicates that tissue tocopherol available for biological function in the biomembrane may decrease due to hyperlipemia during gestation, as reflected in RBC tocopherol change.