Clinically disparate stiff-person syndrome with GAD65 autoantibody in a father and daughter.
Stiff-person syndrome (SPS) is a sporadic autoimmune disorder characterized by muscle stiffness with painful spasms and usually a high level of GAD65 antibody. The authors report familial SPS associated with GAD65 antibody. The clinical presentations were disparate; the father had an appendicular form of SPS and the daughter's axial SPS presented with episodic opisthotonos.
Burns
T M
TM
Department of Neurology, Lahey Clinic, Burlington, MA, USA. tmb8r@virginia.edu
Jones
H R
HR
Phillips
L H
LH
Bugawan
T L
TL
Erlich
H A
HA
Lennon
V A
VA
D000328:Adult; D001323:Autoantibodies / Q000097:blood*; D004576:Electromyography; D005260:Female; D020022:Genetic Predisposition to Disease; D005968:Glutamate Decarboxylase / Q000276:immunology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007527:Isoenzymes / Q000276:immunology*; D008297:Male; D008431:Maternal-Fetal Exchange / Q000276:immunology; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy; D016750:Stiff-Person Syndrome / Q000175:diagnosis / Q000235:genetics / Q000276:immunology
D001323:Autoantibodies; D007527:Isoenzymes; D005968:Glutamate Decarboxylase; C401141:glutamate decarboxylase 2