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Results for “Stiff-Person Syndrome”

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At least 19 recordsLinked to original sources
PubMed1992

Stiff-person syndrome.

The stiff-person syndrome is a disorder of persistent, painful muscle contractions predominately affecting the axial musculature. We describe a patient with this disorder and review its pathophysiology. Molecular biologic and immunologic techniques have recently added to the understanding of the mechanism of this disorder. Association with diseases such as diabetes, vitiligo and hypothyroidism have strengthened the auto-immune nature of this syndrome. Auto-antibodies against glutamic acid decarboxylase (GAD), an intraneuronal enzyme, have been implicated in the etiology of this unique disease. Therapeutic intervention with agents such as benzodiazepines that modify central GABAergic activity have demonstrated significant benefit in patients with stiff-person syndrome.

Female↗
PubMed1991

Stiff-person syndrome: an autoimmune disease.

Stiff-person syndrome (SPS) is characterized by progressive, usually symmetric rigidity of the axial muscles with superimposed painful spasms precipitated by tactile stimuli, passive stretch, volitional movement of affected or unaffected muscles, startling noises, and emotional stimuli. Electromyography demonstrates continuous normal motor unit potentials in the affected muscles. Both the rigidity and the spasms are relieved by sleep, general anesthesia, myoneural blockade, peripheral nerve blockade, and partially by diazepam. Evidence for an autoimmune etiology of SPS includes its association with other autoimmune diseases and autoantibodies and the presence of antibodies against glutamic acid decarboxylase (GAD) in the cerebrospinal fluid (CSF) of many affected patients. We describe two patients with this syndrome who had GAD antibodies in both CSF and serum. Partial relief of the symptoms in these patients by corticosteroid therapy provides additional evidence of an autoimmune etiology of SPS and of the role of immunotherapy in its treatment.

Autoantibodies↗
PubMed1991

A therapeutic trial of milacemide in myoclonus and the stiff-person syndrome.

We investigated the therapeutic effects of milacemide in seven patients with myoclonus and three patients with the stiff-person syndrome in an open-label trial. Milacemide was initiated at 800 mg/day and was gradually increased to a maximum dosage of 2,400 mg/day. No significant improvement occurred in the 10 patients.

Acetamides↗
PubMed1991

Autoantibodies to GABAergic neurons and response to plasmapheresis in stiff-man syndrome.

Stiff-man syndrome is a rare disorder of unknown etiology in which progressive rigidity, spasms, and continuous motor unit activity may be due to dysfunction of GABAergic inhibition of alpha motor neurons. Some patients with this disorder have evidence of autoantibodies reactive with glutamic acid decarboxylase (GAD). We describe a patient with progressive stiff-man syndrome and high titers of GAD-like immunoreactivity in serum but not spinal fluid. Plasmapheresis resulted in lowered antibody titers, decreased exteroceptive reflex responses, reduced motor unit activity, and marked clinical improvement. Immunohistochemistry using patient serum and plasma produced specific labeling of human and experimental animal tissue consistent with GABAergic neurons and terminal fields. This antibody response was not present in samples from more than 200 other patients. These results provide additional evidence of an autoimmune mechanism for stiff-man syndrome and indicate plasmapheresis may be beneficial in some patients.

Adult↗
PubMed1992

[Stiff-Man syndrome with late onset].

We report a case of Stiff-Man syndrome according to Gordon, Januszko and Kaufman's criteria. Onset at age 76, association with insomnia and a rapid course leading to death within 2 years were the characteristic features. CSF data, electromyographic and immunological findings suggest abnormalities of catecholaminergic and GABA ergic systems, with release of segmental or suprasegmental inhibitory influence. The presence of antibodies against glutamic acid decarboxylase, considered a useful marker of this syndrome, raises the possibility of an autoimmune pathogenesis.

Aged↗
PubMed1992

[Clinical analysis of 30 cases of stiff-man syndrome].

Thirty cases of SMS, including 22 cases reported previously in China, were analysed clinically manifested by involvement of neck and facial muscles, slurred speech, dysphagia or dyspnea, exaggerated tendon reflexes, ankle clonus and/or Hoffmann's sign. Half of them had past history of infection. Five out of 18 CSF examined showed elevation of protein content, immunoglobulin and white cell count, suggesting the presence of inflammation or demyelination changes in CNS. The pathology of the syndrome is probably located in the spinal cord or brain stem. The criteria for diagnosis are proposed. For treatment, the dosage and way of administration of diazepam should be judged according to the severeness of the disease; nitrazepam and clonazepam are effective, too.

Adolescent↗
PubMed1991

[Stiff-man syndrome: an immunopathy?].

The discovery of autoimmune processes in the stiff-man syndrome (SMS) not only raises questions concerning the syndrome itself, but may also lead to new insights into pathogenetic principles of neurological disorders. Autoantibodies against GAD, the GABA synthesising enzyme, may become a helpful (though not specific) diagnostic tool, and furthermore may serve as a plausible explanation for both the symptoms of the syndrome and the delayed development of type I diabetes mellitus. However, it remains unexplained why autoimmunity against such widespread inhibitory transmitter systems should induce a syndrome which by definition is confined to only a few symptoms, and for which the majority of neurological signs are regarded as exclusion criteria. It is therefore hypothesised that SMS is part of a broad spectrum of encephalomyelopathies with autoimmunity against GABAergic neurones in common, but with a heterotopic manifestation. Progressive encephalomyelitis with rigidity may be an extreme variant within this spectrum.

Autoantibodies↗
PubMed1992

Stiff-man syndrome.

Stiff-man syndrome (SMS) is a rare disorder of the central nervous system characterized by painful involuntary stiffening of axial muscles accompanied by spasms. These are often precipitated by tactile or emotional stimuli, volitional movement, and startling noises. Until recently, little has been known about the pathogenesis of SMS. There is evidence now to support the hypothesis that SMS may be an autoimmune disease. This is leading to changes in the way this disease is diagnosed and treated. We describe two patients with SMS and review the pathogenesis, diagnosis, and treatment.

Adult↗
PubMed1991

Autoimmunity to glutamic acid decarboxylase (GAD) in Stiff-Man syndrome and insulin-dependent diabetes mellitus.

Stiff-Man syndrome (SMS) is a disorder of the CNS, characterized by rigidity of the body musculature, which has been hypothesized to result from an impairment of GABAergic neurotransmission. GABA is the main inhibitory neurotransmitter of the brain. It is also a putative signal molecule in the pancreas, where it is produced by beta cells (insulin-secreting cells)--the autoimmune target in insulin-dependent diabetes mellitus (IDDM). Autoantibodies to the GABA-synthesizing enzyme glutamic acid decarboxylase (GAD) have been found in SMS and in IDDM. This review summarizes evidence suggesting that SMS may be an autoimmune disease and discusses the possible significance of the autoimmune response to GAD in SMS and IDDM.

Animals↗
PubMed1992

Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.

Familial startle disease (also known as hyperekplexia and congenital "stiff-man" syndrome) is an autosomal dominant disorder characterized by an exaggerated startle reaction of sudden, unexpected auditory or tactile stimuli; affected neonates also have severe and occasionally fatal hypertonia. We recently encountered a large, five-generation family with startle disease, and treated 16 patients (including 1 neonate) with clonazepam; all experienced dramatic and sustained improvement. We performed systematic linkage analysis in this family, and found tight linkage between the disease locus and a polymorphic genetic marker locus (colony-stimulating factor receptor, or CSF1R) that has been physically mapped to chromosome 5q33-q35. The maximum odds ratio favoring linkage over nonlinkage is greater than 10,000,000:1 (lod score, 7.10) at 3% recombination. Several genes encoding neurotransmitter receptor components have been physically mapped to the subtelomeric region of chromosome 5q, and are thus candidates for the startle disease gene. The availability of additional large pedigrees with startle disease should facilitate identification and characterization of the gene for this disorder.

Adult↗
PubMed1991

The effect of posture on the normal and pathological auditory startle reflex.

The effect of posture on the EMG pattern of the normal auditory startle reflex was investigated. The startle response to an unexpected auditory tone was studied in eleven normal subjects when standing, and in six normal subjects when sitting relaxed or tonically plantar flexing both feet. Reflex EMG activity was recorded in the tibialis anterior and soleus about twice as frequently when standing, than when sitting relaxed. In addition, the median latencies to onset of reflex EMG activity in the tibialis anterior and soleus were about 40 and 60 ms shorter during standing, than when sitting relaxed. No short latency EMG activity was recorded in the calf muscles during tonic plantar flexion of the feet, while sitting. The effect of posture on the EMG pattern of the pathological auditory startle reflex was studied in five patients with hyperekplexia. In three patients the latency to onset of reflex EMG activity in the tibialis anterior was shorter when standing, than when sitting relaxed. The EMG pattern of the reflex response to sound was studied in detail in two of these patients and consisted of up to three successive components. The expression of each EMG component depended on the postural set of the limbs. In particular, a distinct short latency component was found in posturally important muscles following auditory stimulation. This short latency component was not recorded when sitting relaxed. It is concluded that the EMG pattern of the physiological and pathological auditory startle response is not fixed, but may change with the postural stance of the body. This finding supports the theory that the normal startle reflex and the abnormal startle reflex in hyperekplexia have a common brainstem origin.

Adolescent↗
PubMed1992

Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to sudden, unexpected acoustic or tactile stimuli. STHE responds dramatically to the benzodiazepine drug clonazepam, which acts at gamma-aminobutyric acid type A (GABA-A) receptors. The STHE locus (STHE) was recently assigned to chromosome 5q, on the basis of tight linkage to the colony-stimulating factor 1-receptor (CSF1-R) locus in a single large family. We performed linkage analysis in the original and three additional STHE pedigrees with eight chromosome 5q microsatellite markers and placed several of the most closely linked markers on an existing radiation hybrid (RH) map of the region. The results provide strong evidence for genetic locus homogeneity and assign STHE to a 5.9-cM interval defined by CSF1-R and D5S379, which are separated by an RH map distance of 74 centirays (roughly 2.2-3.7 Mb). Two polymorphic markers (D5S119 and D5S209) lie within this region, but they could not be ordered with respect to STHE. RH mapping eliminated the candidate genes GABRA1 and GABRG2, which encode GABA-A receptor components, by showing that they are telomeric to the target region.

Base Sequence↗