ABSTRACT
BACKGROUND: Primary cervical dystonia is the most common form of adult-onset focal dystonia. Although most frequently sporadic, 15-20% of patients report a positive family history, suggesting a possible genetic cause. Head tremor is often present in patients with cervical dystonia and may be a prominent symptom. OBJECTIVE: To describe the clinical characteristics of patients with tremulous cervical dystonia. METHODS: Patients with primary cervical dystonia attending our botulinum toxin clinic were assessed with an interview and neurological examination and their notes reviewed. Patients were classified as having either tremulous or non-tremulous cervical dystonia, according to the presence or absence of head tremor on examination. Clinical and demographic data were compared between groups. RESULTS: From 273 patients included (190 females, 83 males), 125 (46%) were classified as tremulous and 148 (54%) as non-tremulous. Tremulous patients were more likely to have a segmental distribution (61% vs. 25%), often involving the arms (48%), and had more frequently associated arm tremor (55% vs. 10%). A positive family history of dystonia and/or tremor was more frequent in tremulous patients (50% vs. 18%). CONCLUSIONS: Patients with cervical dystonia with associated head tremor are more likely to have a segmental distribution (with frequent arm involvement), associated arm tremor and a positive family history, suggesting a genetic etiology in this subgroup of patients.
Subject(s)
Family Health , Torticollis/complications , Torticollis/genetics , Tremor/etiology , Tremor/genetics , Aged , Anti-Dyskinesia Agents/therapeutic use , Botulinum Toxins/therapeutic use , Cohort Studies , Female , Humans , Male , Middle Aged , Torticollis/drug therapy , Tremor/drug therapyABSTRACT
OBJECTIVE: We studied a case series of peripheral nerve hyperexcitability (PNH) aiming to describe clinical characteristics, immunologic and cancer associations, antibodies against neuronal antigens (voltage-gated potassium channel antibodies [VGKC-Abs] and other), and muscle biopsy findings. METHODS: Patients presenting with clinical and electrophysiologic signs of PNH were selected. We studied clinical and electrophysiologic features; a panel of non-neuronal organ-specific antibodies, immunofluorescence on rat nervous tissues, and radioimmunoprecipitation for VGKC-Abs; and muscle biopsies. RESULTS: Thirty-eight patients were included. After the exclusion of 6 cases with axonopathy of known origin, patients were subdivided according to the presence of electrophysiologic findings of motor axonopathy and association with cancer: axonopathic-PNH (group A: 12 patients), isolated nonparaneoplastic PNH (group B: 16 patients), and isolated paraneoplastic PNH (3 with thymoma and myasthenia gravis, 1 with thyroid carcinoma). PNH clinical features were similar in groups A and B. We found an overall high prevalence of clinical autoimmunity (33% of group A and 63% of group B) and systemic non-neuronal autoantibodies (42% of group A and 75% of group B). However, VGKC-Abs were only positive in 2 patients of group B. Ten patients underwent muscle biopsy, which showed inflammatory changes in 2 cases and nonspecific myopathic features in 8. CONCLUSIONS: PNH is a heterogeneous disorder involving the peripheral nerves in patients with a high propensity for developing autoimmunity. Associated muscle diseases are frequent in the form of myositis, myasthenia gravis, or nonspecific myopathic pathologic findings. VGKC-Abs were uncommon in this series.
Subject(s)
Antibodies, Antinuclear/metabolism , Muscle, Skeletal/pathology , Peripheral Nervous System Diseases/immunology , Peripheral Nervous System Diseases/physiopathology , Potassium Channels, Voltage-Gated/metabolism , Adolescent , Adult , Aged , Biopsy , Electrophysiology , Female , Fluorescent Antibody Technique , Humans , Inflammation , Male , Middle Aged , Myasthenia Gravis/immunology , Paraneoplastic Polyneuropathy/immunology , Paraneoplastic Polyneuropathy/physiopathology , Peripheral Nervous System Diseases/pathology , Radioimmunoprecipitation Assay , Risk Factors , Thymoma/immunology , Thyroid Neoplasms/immunology , Young AdultABSTRACT
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