CMT 1A influence of gender + pregnancy - research from Milan

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Research from J Peripher Nerv Syst. 2004 Jun;9(2):118.

Influence of gender and pregnancy on CMT1A.

Pareyson D, Dell' E, DiMonda T, Scaioli V, Ciano C, Sghirlanzoni A,

Lauria G, Morbin M, M, Solari A, Taroni F.

Istituto Nazionale Neurologico " C. Besta " , Milan, Italy.

Progesterone increases PMP22 expression. Transgenic rats overexpressing

PMP22, a model of Charcot-Marie-Tooth type 1A (CMT1A), improve when

treated with the progesterone antagonist, onapristone, and worsen with

progesterone administration. CMT worsening during pregnancy (when

progesterone secretion increases dramatically) has been occasionally

reported. We investigated whether gender and pregnancy influence disease

severity and course in CMT1A. We analyzed clinical and

electrophysiological data of 94 CMT1A patients. Data in males and

females were compared. We also determined disease severity in female

patients in the fertile age as compared to males of the same age group.

We retrospectively assessed influence of gestation on disease course in

20 CMT1A females through a comprehensive interview. There was no

significant difference in disease severity in females as compared to

males. Skeletal deformities, abnormalities of gait and deep tendon

jerks, wasting, weakness, and sensory impairment were similar in the two

genders. Nerve conduction abnormalities and decrease of sensory and

motor evoked response amplitudes were comparable in the two groups. We

found no difference in disease severity even when considering 15 to

50-year-old patients. Symptom worsening during pregnancy was reported by

4/20 CMT1A females. The effect of sex hormones on PMP22 does not result

in a relevant difference in disease severity between the two genders. A

few patients reported some worsening during pregnancy. Disease and

normal controls need to be evaluated to establish whether this is a

CMT1A-related phenomenon.