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2.
Mult Scler ; 5(2): 121-5, 1999 Apr.
Article in English | MEDLINE | ID: mdl-10335521

ABSTRACT

The aim of this study was to assess the frequency of organ- and nonorgan-specific autoantibodies in MS patients and evaluate whether the presence of autoantibodies is an indicator of disease activity and/or a prognosis factor. One hundred and five definite MS patients in different stages and with different course and 75 blood donors were tested for the autoantibodies TgA, TMA/TPO-A, PCA, ANA, aCl, SMA, AMA and ANCA. All patients were screened for the LAC. Autoantibodies to at least one autoantigen were found in 66.6% MS patients and in 13.3% controls (P < 0.001). The frequency of TgA, TMA/TPO-A, ANA, aCl and SMA was statistically higher in patients than in controls. Circulating ANCAs were found in seven MS, a never reported finding. An early onset of MS (< 20 years) was associated with a lower autoantibody frequency (P < 0.01) Primary and secondary progressive MS had a higher antibody frequency than relapsing-remitting (P < 0.05) or benign (P < 0.001) MS. Up to 86% of patients were autoantibody-positive during the acute stage, but only 30% of them remained positive during the remission stage (P < 0.001). A generalised immune dysregulation occurs in MS patients, mostly during the acute stages and in the progressive courses, involving activation of both autoreactive Th1-cells (mainly linked to CNS lesions) and B-cells via Th2 cells.


Subject(s)
Antibodies, Antineutrophil Cytoplasmic/blood , Antibodies, Antinuclear/blood , Multiple Sclerosis/immunology , Adolescent , Adult , Enzyme-Linked Immunosorbent Assay , Female , Humans , Male , Middle Aged , Mitochondria/immunology , Muscle, Smooth/immunology , Prognosis
3.
Ital J Neurol Sci ; 18(5): 271-6, 1997 Oct.
Article in English | MEDLINE | ID: mdl-9412850

ABSTRACT

The "distal myopathies" include autosomal dominant, autosomal recessive, and sporadic disorders. Two of the recessive disorders are considered to be definitive entities: Miyoshi's myopathy, which has an early adult onset and first involves the calf muscles, and distal myopathy with rimmed vacuoles. We here describe the cases of two sisters and compare them with previously reported cases. The disorder in our patients is characterised by: a) autosomal recessive inheritance; b) onset in early adult life; c) initial involvement of the tibialis anterior and peroneal muscles; d) subsequent involvement of the calf muscles spreading to the proximal muscles of the legs and, later, the arms; e) a moderately disabling evolution over a period of 10-12 years; f) marked and stably high serum levels of CK and other enzymes; g) EMG evidence of myopathic damage, with fibrillation at rest; and h) a histological picture of dystrophic myopathy, with atrophy of mainly type 2 fibres. We think that this syndrome is different from the two forms of autosomal recessive distal myopathy mentioned above.


Subject(s)
Muscular Dystrophies/genetics , Adolescent , Adult , Creatine Kinase/blood , Electromyography , Enzymes/metabolism , Female , Genes, Recessive , Humans , Muscle, Skeletal/enzymology , Muscle, Skeletal/pathology , Muscular Dystrophies/enzymology , Muscular Dystrophies/pathology
5.
Riv Neurol ; 61(4): 137-44, 1991.
Article in Italian | MEDLINE | ID: mdl-1667714

ABSTRACT

Miller Fisher Syndrome (MFS), which is characterized by ophthalmoplegia, ataxia and tendon areflexia, is generally considered as a clinical variant of Guillain-Barré Syndrome. However some features of the disease are still debated, particularly regarding possible central nervous system involvement. After presenting two new cases of MFS, the authors provide a critical review of the literature and discuss the nosographical position of the disease. The main conclusions can be summarized as follows: MFS is a predominantly axonal inflammatory neuropathy with prevailing involvement of oculomotor nerves. It is associated to spinal multi or polyneuropathy, which in mildly affected cases is manifested by areflexia, while in severe ones it can be responsible of sense and/or motor impairment. In addition to peripheral neuropathy CNS involvement, exclusive or more marked in posterior fossa, occurs not infrequently. The prognosis of the disease is often benign, but disabling or even fatal outcome is possible. Corticosteroid treatment, possibly because of antiinflammatory and/or immunosuppressive action, could be effective in some patients. Finally, in spite of some similarities with GBS, MFS should be considered as a separate entity with its own nosographical position.


Subject(s)
Ataxia , Ophthalmoplegia , Peripheral Nervous System Diseases/classification , Reflex, Abnormal , Reflex, Stretch , Adult , Ataxia/classification , Ataxia/diagnosis , Ataxia/etiology , Consciousness Disorders/etiology , Female , Humans , Middle Aged , Models, Biological , Ophthalmoplegia/classification , Ophthalmoplegia/diagnosis , Ophthalmoplegia/etiology , Polyradiculoneuropathy/classification , Prognosis , Retrospective Studies , Syndrome
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