RT Journal Article
SR Electronic
T1 A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot‐Marie‐Tooth disease
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 867
OP 873
DO 10.1212/WNL.48.4.867
VO 48
IS 4
A1 M. Kessali
A1 R. Zemmouri
A1 A. Guilbot
A1 T. Maisonobe
A1 A. Brice
A1 E. LeGuern
A1 D. Grid
YR 1997
UL http://n.neurology.org/content/48/4/867.abstract
AB The hereditary sensory and motor neuropathies form a clinically heterogenous group of disorders, the most frequent of which is Charcot-Marie-Tooth disease (CMT). The autosomal dominant forms of CMT are well characterized, but the nosology of autosomal recessive CMT is still controversial. We report two large consanguineous Algerian families with an autosomal recessive demyelinating CMT and similar clinical manifestations. The clinical, electrophysiologic, and neuropathologic features resemble those of autosomal dominant CMT1, but the early onset and rapid progression of deformities are specific. We excluded by linkage analysis the three loci CMT1A (17p11.2), CMT1B (1q22–231, and CMT4A (Sq11–21.1) responsible for demyelinating forms of CMT. These findings suggest a subtype of autosomal recessive neuropathy, the locus of which is undetermined.