STIFF MAN SYNDROME - CLINICAL AND LABORATORY FINDINGS IN 8 PATIENTS

The clinical, biochemical, neuroimaging and neurophysiological finding s of eight patients with stiff man syndroms (SMS) [four of six being t ested with autoantibodies against glutamic acid decarboxylase (GAD)] a re presented. In two patients (one GAD-positive, one GAD-negative), tr ansient oculomotor disturbances suggested progressive encephalomyeliti s with rigidity and myoclonus (PERM) as differential diagnosis. The ca talogue of characteristic clinical symptoms of SMS is extended by thre e 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 op isthotonos, stiffening of the slightly abducted legs and inversion of the plantar-flexed feet; (3) a paroxysmal fear when crossing a free sp ace unaided, or even thinking of it. Clinical findings did not enable us to discriminate between patients tested GAD-positive or GAD-negativ e. Cerebrospinal fluid contained elevated immunoglobulin levels or cel l counts, or both, in the majority of patients. Autopsy of one patient revealed scattered lymphocyte cuffs around leptomeningeal, intracereb ral and particularly intraspinal vessels, suggesting a mild inflammato ry process. Whether SMS and PERM are closely related is discussed; the y are possibly both manifestations of a spectrum of encephalomyelopath ies having autoimmunity against GABAergic neurons in common.