Article

Autosomal recessive Charcot-Marie-Tooth disease (AR-CMT) is often characterized
by onset in early childhood and severe phenotype compared to the dominant forms.
CMT disease associated with periaxin gene (PRX) is rare and characterized by
demyelination limited to the major peripheral nerves. Following the discovery of
a high frequency of a specific periaxin gene mutation (E1085fsX4 homozygote) in
the Reunion Island, we examined all French patients known as carriers of the
periaxin gene mutation. There were 24 patients. Eighteen were from the Reunion
Island (6 families and 10 sporadic cases). The six remaining patients were in two
families, each with two affected individuals, and two sporadic cases. The series
included 17 female and seven male patients. Walking was acquired late, on average
at 3.4+/-1.6 years. One patient never learned to walk. The Charcot Marie Tooth
Neuropathy Score (CMTNS) averaged 24.5+/-8.1. Seven patients had been
wheelchair-bound since the age of 24+/-22. Other symptoms were: scoliosis most
often observed after the age of 12 years and sometimes complicated by a
restrictive respiratory syndrome; foot deformity in 24 patients; strabismus;
glaucoma; myopia. When conduction recordings are available, median nerve motor
conduction was slow (<10m/s), associated with a major lengthening of distal
latencies. Study of the periaxin gene should be considered in patients with
severe demyelinating neuropathy associated with early infantile scoliosis. This
disease leads to major disability (29% of patients in this series were
wheelchair-bound) and to respiratory insufficiency. Genetic counselling is highly
recommended for consanguineous families.
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Langue : FRANCAIS