Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III).
Hereditary motor-sensory neuropathy type III (HMSN III) (Dejerine-Sottas disease) is a severe demyelinating neuropathy that is traditionally considered autosomal recessive. We report a father and daughter diagnosed with HMSN III by clinical, electrophysiologic, and pathologic criteria, thus showing that it may be transmitted in an autosomal dominant fashion in selected families.
Lynch
D R
DR
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA.
Hara
H
H
Yum
S W
SW
Chance
P F
PF
Scherer
S S
SS
Bird
S J
SJ
Fischbeck
K H
KH
D000293:Adolescent; D004594:Electrophysiology; D005260:Female; D005799:Genes, Dominant; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree