Rinshō shinkeigaku = Clinical neurology
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To elucidate molecular bases of multiple system atrophy (MSA), we first focused on recently identified MSA multiplex families. Though linkage analyses followed by whole genome resequencing, we have identified a causative gene, COQ2, for MSA. ⋯ COQ2 encodes an enzyme in the biosynthetic pathway of coenzyme Q10. Decreased synthesis of coenzyme Q10 is considered to be involved in the pathogenesis of MSA through decreased electron transport in mitochondria and increased vulnerability to oxidative stress.
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Myositis is a heterogeneous group of systemic autoimmune disorders characterized by inflammation of skeletal muscle. Historically, myositis has been defined using clinical features including muscle weakness, skin disease, internal organ involvement, and an association with cancer in adults. From a clinicopathologic approach, myositis has been classified into pathologically distinct subsets, polymyositis, dermatomyositis(DM), necrotizing autoimmune myositis, amyopathic DM, and non-specific myositis. ⋯ On the other hand, with the recent discovery of new myositis-specific autoantibodies (MSAs), it has been revealed that around 60% of patients with IIMs have been shown to have a anti-myositis-specific autoantibody, including anti-synthetase, anti-Mi-2, anti-MDA5, anti-TIF1 and anti-SRP antibodies. Because of striking association between unique MSAs and distinct clinical phenotypes, these antibodies are thought to be important not only for classifications of IIMs, but also as factors involved in the mechanism underlying their pathogenesis. This review reports recent progress in understanding of pathological features of myositis with MSAs.
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Headache and sleep problems are both some of the most commonly reported symptoms in clinical practice. There is a clear association between chronic headache and sleep disorders, especially headaches occurring during the night or early morning. Identification of sleep problems in chronic headache patients is worthwhile because treatment of sleep disorders among chronic headache patients may be followed by improve of the headache. ⋯ The pathophysiologic background for a relation between obstructive sleep apnoea and morning headache is multifactorial. We should also be noted that tension-type headache and migraine might be coexisted in obstructive sleep apnoea patients. In addition, we review the relationship between migraine and sleep disorders such as restless legs syndrome, narcolepsy and parasomnia (dream enacting behaviour) including our studies.
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A 62-year-old man complained of resting tremor and posture tremor. In spite of presence of the tremor, other parkinsonian component was very mild. [(11)C]2β-carbomethoxy-3β-(4-fluorophenyl)-tropane ([(11)C]CFT) PET showed asymmetrical reduction of the uptake and [(11)C]raclopride PET showed slightly increased uptake in the striatum. Although he was diagnosed as having benign tremulous parkinsonism (BTP), anti-parkinsonian medications, including anti-cholinergic agent, dopamine agonist and l-dopa, were not effective for his tremor. ⋯ Because his quality of life (QOL) was disturbed by the troublesome tremor, deep brain stimulation of the subthalamic nucleus (STN-DBS) was performed. After STN-DBS, his tremor was dramatically improved. According to clinical course of our patient as well as previous reports, STN-DBS should be considered as a therapeutic option for BTP patients with severe tremor.
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Case Reports
[A case of cerebral fat embolism after artificial bone replacement operation for femoral head fracture].
A 83 years old woman was slipped and injured with right femoral neck fracture. After three days from the fracture, she underwent an artificial head bone replacement operation. Immediately after surgery, she complained of chest discomfort, nausea and dyspnea. ⋯ Two weeks after surgery, her condition recovered and remaind to stuporous state even six month after surgery. We experienced a typical case of cerebral fat embolism, after bone surgery with diagnostic findings on MRI-DWI. Diagnosis of cerebral fat embolism syndrome requires a history of long bone fracture and/or replacing surgery with typical finding on MRI images, such as "star field pattern''.