A multiple sclerosis‐like disorder in patients with OPA1 mutations
نویسندگان
چکیده
We describe three unrelated patients presenting with a spinal cord syndrome and neuroimaging features consistent with multiple sclerosis (MS). All harbored a pathogenic OPA1 mutation. Although the neurological phenotype resembled neuromyelitis optica (NMO), anti-aquaporin 4 antibodies were not detected and the disorder followed a slow progressive course. The coincidental occurrence of OPA1 mutations and an MS-like disorder is likely to have modulated the phenotypic manifestations of both disorders, but unlike the previously reported association of Leber hereditary optic neuropathy and MS (Harding disease), the optic neuropathy in patients with OPA1 mutations and an MS-like disorder can be mild with a good visual prognosis.
منابع مشابه
Multi-system neurological disease is common in patients with OPA1 mutations
Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal 'dominant optic atrophy plus' variants and the extent of neurological involvement have not been established. In this large multi-centre study of 104 patients from 45 indepen...
متن کاملThe Effectiveness of Acceptance and Commitment Therapy on Emotional Dysregulation in Multiple Sclerosis Patients: A Single Case Study
Introduction: Patients with multiple sclerosis(MS) experience many physical and emotional disorders. Therefore, this study aimed the effectiveness of acceptance and commitment therapy on emotional dysregulation in multiple sclerosis patients. Methods: The research method in present study was based on the practical aim, the experiment of type the single-subject with ABA design. The statistical ...
متن کاملMitochondrial changes in leukocytes of patients with optic neuritis.
PURPOSE Optic neuritis (ON) is a demyelinating disorder affecting optic nerves. It has certain similarities to Leber hereditary optic neuropathy (LHON) and other spontaneous optic neuropathies known to be associated with mitochondriopathies. We evaluated patients with optic neuritis for evidence of systemic mitochondrial abnormalities. METHODS Patients were selected who had ON affecting one o...
متن کاملFMS-like Tyrosine Kinase-3 Mutation in a Child with Standard-risk ALL and Normal Karyotype
FMS-like tyrosine kinase-3 is a receptor tyrosine kinase expressed by immature hematopoietic cells and is important for the normal development of stem cells and the immune system. Mutations of FMS-like tyrosine kinase-3 have been detected in about 30% of patients with acute myelogenous leukemia and a small number of patients with acute lymphoblastic leukemia. The FMS-like tyrosine kinase-3 muta...
متن کاملTraumatic Events Exposure and Post Traumatic Stress Disorder in Caregivers of Patients with Bipolar Disorder, Bipolar Disorder and Comorbid Post Traumatic Stress Disorder and Multiple Sclerosis
Background: Chronic diseases affect the lives of the patient and caregiver. Caring for a patient with a chronic psychiatric illness, such as bipolar disorder, is a stressful and challenging activity. Caregivers of severe psychiatric patients are the primary victims of violence by patients. Caring for these patients can be very stressful for the caregiver to the extent of experiencing post-traum...
متن کامل