Stiff man syndrome: clinical and laboratory findings in eight patients.
The clinical, biochemical, neuroimaging and neurophysiological findings of eight patients with stiff man syndromes (SMS) [four of six being tested with autoantibodies against glutamic acid decarboxylase (GAD)] are presented. In two patients (one GAD-positive, one GAD-negative), transient oculomotor disturbances suggested progressive encephalomyelitis with rigidity and myoclonus (PERM) as differential diagnosis. The catalogue of characteristic clinical symptoms of SMS is extended by three new symptoms: (1) an aura-like feeling reported by five patients to precede spontaneous spasmodic attacks; (2) a stereotyped motor pattern seen in seven patients during spasmodic jerks, consisting of brief opisthotonos, stiffening of the slightly abducted legs and inversion of the plantar-flexed feet; (3) a paroxysmal fear when crossing a free space unaided, or even thinking of it. Clinical findings did not enable us to discriminate between patients tested GAD-positive or GAD-negative. Cerebrospinal fluid contained elevated immunoglobulin levels or cell counts, or both, in the majority of patients. Autopsy of one patient revealed scattered lymphocyte cuffs around leptomeningeal, intracerebral and particularly intraspinal vessels, suggesting a mild inflammatory process. Whether SMS and PERM are closely related is discussed; they are possibly both manifestations of a spectrum of encephalomyelopathies having autoimmunity against GABAergic neurons in common.
Meinck
H M
HM
Abteilung für Klinische Neurophysiologie, Universität Heidelberg, Germany.
Ricker
K
K
Hülser
P J
PJ
Schmid
E
E
Peiffer
J
J
Solimena
M
M
D000328:Adult; D000368:Aged; D001323:Autoantibodies / Q000032:analysis; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D001418:Baclofen / Q000627:therapeutic use; D001569:Benzodiazepines / Q000627:therapeutic use; D001798:Blood Proteins / Q000032:analysis; D002490:Central Nervous System / Q000473:pathology; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D004568:Electrodiagnosis; D005260:Female; D005968:Glutamate Decarboxylase / Q000032:analysis / Q000276:immunology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D016750:Stiff-Person Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D005680:gamma-Aminobutyric Acid / Q000502:physiology
D001323:Autoantibodies; D001798:Blood Proteins; D002556:Cerebrospinal Fluid Proteins; D001569:Benzodiazepines; D005680:gamma-Aminobutyric Acid; D005968:Glutamate Decarboxylase; D001418:Baclofen