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Kathleen M. Mcevoy - One of the best experts on this subject based on the ideXlab platform.
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the acoustic startle reflex in Stiff Man Syndrome
Neurology, 1994Co-Authors: Joseph Y Matsumoto, John N. Caviness, Kathleen M. McevoyAbstract:We studied the EMG response to loud noise in eight patients with Stiff-Man Syndrome (SMS). Audiogenic muscle jerks originated in the acoustic startle reflex. Patients demonstrated excessive, poorly habituating motor activity predominantly in axial and leg muscles. Exaggerated startle in SMS probably reflects segmental hyperexcitability of axial and lumbar spinal motor neurons.
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The acoustic startle reflex in Stiff‐Man Syndrome
Neurology, 1994Co-Authors: Joseph Y Matsumoto, John N. Caviness, Kathleen M. McevoyAbstract:We studied the EMG response to loud noise in eight patients with Stiff-Man Syndrome (SMS). Audiogenic muscle jerks originated in the acoustic startle reflex. Patients demonstrated excessive, poorly habituating motor activity predominantly in axial and leg muscles. Exaggerated startle in SMS probably reflects segmental hyperexcitability of axial and lumbar spinal motor neurons.
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Stiff-Man Syndrome.
Mayo Clinic proceedings, 1991Co-Authors: Kathleen M. McevoyAbstract:Stiff-Man Syndrome (Moersch-WoltMan Syndrome) is a rare disorder of motor function characterized by involuntary Stiffness of axial muscles and superimposed painful muscle spasms, which are often induced by startle or emotional stimuli. The standard treatment has been benzodiazepines. An association has been reported between Stiff-Man Syndrome and epilepsy, insulin-dependent diabetes, and a variety of organ-specific autoimmune disorders. Antibodies directed against glutamic acid decarboxylase and against pancreatic islet cells have been detected in the serum and cerebrospinal fluid of patients with Stiff-Man Syndrome. These findings suggest that Stiff-Man Syndrome may be an autoimmune disease. Preliminary reports indicate that patients with Stiff-Man Syndrome have a favorable response to plasma exchange and corticosteroid therapy.
H M Meinck - One of the best experts on this subject based on the ideXlab platform.
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Hyperekplexia and Stiff-Man Syndrome: abnormal brainstem reflexes suggest a physiological relationship
Journal of neurology neurosurgery and psychiatry, 2004Co-Authors: Shanyisa A Khasani, K Becker, H M MeinckAbstract:Background and objectives: Hyperekplexia and the Stiff-Man Syndrome (SMS) are both conditions with exaggerated startle suggesting abnormal brainstem function. Investigation of brainstem reflexes may provide insight into disturbed reflex excitation and inhibition underlying these movement disorders. Patients and methods: Using four-channel EMG, we examined four trigeminal brainstem reflexes (monosynaptic masseter, masseter inhibitory, glabella, and orbicularis oculi blink reflexes) and their spread into pericranial muscles in five patients with familial hyperekplexia (FH), two with acquired hyperekplexia (AH), 10 with SMS, and 15 healthy control subjects. Results: Both FH/AH and SMS patients had abnormal propagation of brainstem reflexes into pericranial muscles. All patients with hyperekplexia showed an abnormal short-latency (15–20 ms) reflex in the trapezius muscle with a characteristic clinical appearance (“head retraction jerk”) evoked by tactile or electrical stimulation of the trigeminal nerve, but normal monosynaptic masseter reflexes. Inhibitory brainstem reflexes were attenuated in some FH/AH patients. Four of 10 patients with SMS had similar short-latency reflexes in the neck muscles and frequently showed widespread enhancement of other excitatory reflexes, reflex spasms, and attenuation of inhibitory brainstem reflexes. Conclusion: Reflex excitation is exaggerated and inhibition is attenuated in both Stiff-Man Syndrome and familial or acquired hyperekplexia, indicating a physiological relationship. Reflex transmission in the brainstem appears biased towards excitation which may imply dysfunction of inhibitory glycinergic or GABAergic interneurons, or both.
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specific phobia is a frequent non motor feature in Stiff Man Syndrome
Journal of Neurology Neurosurgery and Psychiatry, 2003Co-Authors: P Henningsen, H M MeinckAbstract:Objective: To investigate systematically the rate and type of phobia in Stiff Man Syndrome and its variants, and to compare patients with Stiff Man Syndrome with and without phobia for sociodemographic and neurological characteristics. Methods: 43 consecutive patients with Stiff Man Syndrome referred to a university department of neurology were assessed using the anxiety disorders interview schedule, revised (ADIS-R), a structured diagnostic interview for anxiety disorders, in addition to a full clinical neurological and psychiatric assessment. Results: 19 patients (44.2%) developed task specific phobia—that is, fear and avoidance of situations difficult to master owing to the motor symptoms of Stiff Man Syndrome (such as crossing streets). Three further patients (7%) had subthreshold phobia—that is, phobic anxiety without avoidance. There were no significant differences between patients with and without phobia in terms of age, illness duration, type of Stiff Man Syndrome, antibody status, or frequency of falls. Patients with phobia were more likely to present with exaggerated startle responses and to have an initial misdiagnosis of psychogenic movement disorder. Conclusions: Specific phobia is a frequent non-motor symptom of Stiff Man Syndrome. Early recognition is an important aid to correct diagnosis. The aetiology of phobia in Stiff Man Syndrome is unknown. There is no evidence of a direct pathogenic role of autoantibodies directed against glutamic acid decarboxylase in the development of phobia.
Franco Folli - One of the best experts on this subject based on the ideXlab platform.
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Stiff-Man Syndrome
Neuromuscular Disorders in Clinical Practice, 2013Co-Authors: Franco Folli, Angelo Quattrini, Annamaria Prioletta, Giuseppe GalardiAbstract:Stiff-Man Syndrome is a central nervous system disorder, characterized by muscle rigidity and painful spasms, which involve mainly the muscles of the limbs, trunk, and neck. This chapter discusses the etiology, pathogenesis, clinical Manifestations, diagnosis, treatment, and prognosis of this disorder.
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Stiff-Man Syndrome: Pathogenetic, Nosological and Therapeutic Considerations
Autoantibodies in Neurological Diseases, 2002Co-Authors: Franco Folli, G. PiccoloAbstract:The acronym SMS (Stiff-Man Syndrome) identifies a Syndrome of slowly progressive Stiffness involving skeletal muscles (mainly axial) with superimposed muscle spasms. It was first described by Moersch and WoltMann in 1956 [1]. A set of diagnostic criteria was proposed by Gordon et al. [2] and Lorish et al. [3]. Diagnostic criteria included: 1) a prodrome of Stiffness and rigidity in axial muscles; 2) a slow progression of Stiffness involving proximal limb muscles, making walking difficult; 3) a fixed deformity, usually lordosis, of the spine; 4) the presence of superimposed muscle spasms, often precipitated by external stimuli; 5) normal motor and sensory nerve findings; 6) normal mental status and 7) an EMG finding of continuous motor unit activity (CMUA) at rest, abolished by intravenous diazepam or reduced by orally administered diazepam. It has been recently debated whether SMS is a single disease entity. Thirty-eight reported SMS patients were rexamined [4]; only seven of them (18.4%) fulfilled the Lorish diagnostic criteria [3].
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Stiff Man Syndrome, 40 years later
Journal of neurology neurosurgery and psychiatry, 1998Co-Authors: Franco FolliAbstract:The Stiff Man Syndrome is a rare disorder of the CNS, which is characterised clinically by fluctuating and progressive muscle rigidity and spasms. It was recognised as a distinct entity in 1956 by Moersch and WoltMan.1 2 The diagnosis relies also on the presence of continuous motor unit activity, without evidence of neuromyotonia, extrapyramidal or pyramidal dysfunction, or focal lesions of the spinal cord. Rigidity and spasms may dominate in the axial muscles, or in one or more distal limbs at clinical examination. In 1986, the acute onset of diabetic ketoacidosis in a patient affected by Stiff Man Syndrome, prompted us to investigate further the potential pathogenetic association of the two entities.3-5 …
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Autoantibodies to a 128-kd Synaptic Protein in Three Women with the Stiff-Man Syndrome and Breast Cancer
The New England journal of medicine, 1993Co-Authors: Franco Folli, Michele Solimena, R. Cofiell, M Austoni, Giovanni Tallini, G. Fassetta, David W. Bates, N Cartlidge, Gian Franco Bottazzo, G. PiccoloAbstract:Background The Stiff-Man Syndrome is a rare disease of the central nervous system characterized by progressive rigidity of the body musculature. Autoantibodies directed against glutamic acid decarboxylase are present in about 60 percent of patients with the Syndrome. In this group, there is a striking association of the Stiff-Man Syndrome with organ-specific autoimmune diseases, primarily insulin-dependent diabetes mellitus. Methods We studied three women with the Stiff-Man Syndrome and breast cancer, seeking autoantibodies directed against nervous system antigens in serum and cerebrospinal fluid by immunocytochemical techniques, Western blotting, and immunoprecipitation. Results Autoantibodies directed against a 128-kd brain protein were found in two of the women with the Stiff-Man Syndrome and breast cancer. These results led to a search for breast cancer in the third patient with the Stiff-Man Syndrome, who also had autoantibodies. A small invasive ductal carcinoma was detected by ultrasonography and r...
Joseph Y Matsumoto - One of the best experts on this subject based on the ideXlab platform.
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glycine receptor autoimmune spectrum with Stiff Man Syndrome phenotype
JAMA Neurology, 2013Co-Authors: Andrew Mckeo, Eugenia Martinezhernandez, Eric Lancaste, Joseph Y Matsumoto, Robe J Harvey, Kathlee M Mcevoy, Sea J Pittock, Vanda A Lenno, Josep DalmauAbstract:Objectives To determine whether glycine receptor α1 subunit-specific autoantibodies (GlyRα1-IgG) occur in a broader spectrum of brainstem and spinal hyperexcitability disorders than the progressive encephalomyelitis with rigidity and myoclonus phenotype recognized to date, and to ascertain disease specificity. Design Retrospective, case-control study. Settings Mayo Clinic, Rochester, Minnesota, and University of Barcelona, Spain. Patients Eighty-one patients with Stiff-Man Syndrome phenotype, 80 neurologic control subjects, and 20 healthy control subjects. Intervention Glycine receptor α1–transfected cells to test serum or cerebrospinal fluid from cases and control subjects. Main Outcome Measures Frequency of GlyRα1-IgG positivity among Stiff-Man Syndrome phenotype cases and control subjects. Comparison of GlyRα1-IgG seropositive and seronegative cases. Results Seropositive cases (12% of cases) included 9 with Stiff-Man Syndrome (4 classic; 5 variant; 66% were glutamic acid decarboxylase 65–IgG positive) and 1 with progressive encephalomyelitis with rigidity and myoclonus. Immunotherapy responses were noted more frequently in GlyRα1-IgG–positive cases (6 of 7 improved) than in seronegative cases (7 of 25 improved; P = .02). The single seropositive control patient had steroid-responsive vision loss and optic atrophy with inflammatory cerebrospinal fluid. Conclusions Glycine receptor α1–IgG aids identification of autoimmune brainstem/spinal cord hyperexcitability disorders and may extend to the glycinergic visual system.
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The acoustic startle reflex in Stiff‐Man Syndrome
Neurology, 1994Co-Authors: Joseph Y Matsumoto, John N. Caviness, Kathleen M. McevoyAbstract:We studied the EMG response to loud noise in eight patients with Stiff-Man Syndrome (SMS). Audiogenic muscle jerks originated in the acoustic startle reflex. Patients demonstrated excessive, poorly habituating motor activity predominantly in axial and leg muscles. Exaggerated startle in SMS probably reflects segmental hyperexcitability of axial and lumbar spinal motor neurons.
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the acoustic startle reflex in Stiff Man Syndrome
Neurology, 1994Co-Authors: Joseph Y Matsumoto, John N. Caviness, Kathleen M. McevoyAbstract:We studied the EMG response to loud noise in eight patients with Stiff-Man Syndrome (SMS). Audiogenic muscle jerks originated in the acoustic startle reflex. Patients demonstrated excessive, poorly habituating motor activity predominantly in axial and leg muscles. Exaggerated startle in SMS probably reflects segmental hyperexcitability of axial and lumbar spinal motor neurons.
Josep Dalmau - One of the best experts on this subject based on the ideXlab platform.
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glycine receptor autoimmune spectrum with Stiff Man Syndrome phenotype
JAMA Neurology, 2013Co-Authors: Andrew Mckeo, Eugenia Martinezhernandez, Eric Lancaste, Joseph Y Matsumoto, Robe J Harvey, Kathlee M Mcevoy, Sea J Pittock, Vanda A Lenno, Josep DalmauAbstract:Objectives To determine whether glycine receptor α1 subunit-specific autoantibodies (GlyRα1-IgG) occur in a broader spectrum of brainstem and spinal hyperexcitability disorders than the progressive encephalomyelitis with rigidity and myoclonus phenotype recognized to date, and to ascertain disease specificity. Design Retrospective, case-control study. Settings Mayo Clinic, Rochester, Minnesota, and University of Barcelona, Spain. Patients Eighty-one patients with Stiff-Man Syndrome phenotype, 80 neurologic control subjects, and 20 healthy control subjects. Intervention Glycine receptor α1–transfected cells to test serum or cerebrospinal fluid from cases and control subjects. Main Outcome Measures Frequency of GlyRα1-IgG positivity among Stiff-Man Syndrome phenotype cases and control subjects. Comparison of GlyRα1-IgG seropositive and seronegative cases. Results Seropositive cases (12% of cases) included 9 with Stiff-Man Syndrome (4 classic; 5 variant; 66% were glutamic acid decarboxylase 65–IgG positive) and 1 with progressive encephalomyelitis with rigidity and myoclonus. Immunotherapy responses were noted more frequently in GlyRα1-IgG–positive cases (6 of 7 improved) than in seronegative cases (7 of 25 improved; P = .02). The single seropositive control patient had steroid-responsive vision loss and optic atrophy with inflammatory cerebrospinal fluid. Conclusions Glycine receptor α1–IgG aids identification of autoimmune brainstem/spinal cord hyperexcitability disorders and may extend to the glycinergic visual system.