[Show abstract][Hide abstract] ABSTRACT: Case 1, a Japanese 30-year-old man, and case 2, a 22-year-old younger brother of case 1, presented with pediatric-onset dystonia without optic neuropathy. Case 1 was wheel-chaired and case 2 was bedridden when referred to our hospital. Genetic analysis demonstrated homoplasmic mitochondrial 14459G>A DNA mutation in leukocyte of case 1. Case 3, 55-year-old mother of case 1 and 2, was asymptomatic. All three cases showed bilateral putaminal lesions by magnetic resonance imaging, which were larger in case 1 and 2, more affected cases, than case 3 (Fig. 1).This article is protected by copyright. All rights reserved.
[Show abstract][Hide abstract] ABSTRACT: Levodopa-induced dyskinesia (LID) is a major complication of long-term dopamine replacement therapy for Parkinson's disease, and becomes increasingly problematic in the advanced stage of the disease. Although the cause of LID still remains unclear, there is accumulating evidence from animal experiments that it results from maladaptive plasticity, resulting in supersensitive excitatory transmission at corticostriatal synapses. Recent work using transcranial magnetic stimulation suggests that the motor cortex displays the same supersensitivity in Parkinson's disease patients with LID. To date, the cellular mechanisms underlying the abnormal cortical plasticity have not been examined. The morphology of the dendritic spines has a strong relationship to synaptic plasticity. Therefore, we explored the spine morphology of pyramidal neurons in the motor cortex in a rat model of LID. We used control rats, 6-hydroxydopamine-lesioned rats (a model of Parkinson's disease), 6-hydroxydopamine-lesioned rats chronically treated with levodopa (a model of LID), and control rats chronically treated with levodopa. Because the direct pathway of the basal ganglia plays a central role in the development of LID, we quantified the density and size of dendritic spines in intratelencephalic (IT)-type pyramidal neurons in M1 cortex that project to the striatal medium spiny neurons in the direct pathway. The spine density was not different among the four groups. In contrast, spine size became enlarged in the Parkinson's disease and LID rat models. The enlargement was significantly greater in the LID model than in the Parkinson's disease model. This enlargement of the spines suggests that IT-type pyramidal neurons acquire supersensitivity to excitatory stimuli. To confirm this possibility, we monitored miniature excitatory postsynaptic currents (mEPSCs) in the IT-type pyramidal neurons in M1 cortex using whole-cell patch clamp. The amplitude of the mEPSCs was significantly increased in the LID model compared with the control. This indicates that the IT-type pyramidal neurons become hyperexcited in the LID model, paralleling the enlargement of spines. Thus, spine enlargement and the resultant hyperexcitability of IT-type pyramidal neurons in M1 cortex might contribute to the abnormal cortical neuronal plasticity in LID.
Neurobiology of Disease 01/2014; · 5.62 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Immunoglobulin G (IgG) 4-related disease is a novel autoimmune disease that was discovered and established in the 21st century. We treated a patient, a 66-year-old Japanese woman, with exudative otitis media, pachymeningitis and orbital pseudotumor who showed poor responsiveness to glucocorticoid therapy, and was successfully treated by oral cyclophosphamide. We diagnosed her illness as intracranial IgG4-related disease by immunohistochemical examination. Mastoidectomy was carried out 8 months after the first onset of exudative otitis media when the general concept of IgG4-related disease was not established, and we re-examined the specimen from her middle ear 5 years after the operation. This is the first report of a patient with histologically confirmed intracranial IgG4-related disease who was successfully treated by cyclophosphamide. Oral cyclophosphamide can be effective to treat intracranial IgG4-related disease that is resistant to steroid therapy.
Neurology and Clinical Neuroscience. 01/2013; 1(1).
[Show abstract][Hide abstract] ABSTRACT: Levodopa-induced dyskinesia has been suggested to result from maladaptive plasticity at corticostriatal synapses. Synaptic plasticity is based upon morphologic changes of dendritic spines. To elucidate whether the morphologic changes of spines occur in the striatum of rat models of levodopa-induced dyskinesia, we examined immunoreactivity of drebrin, an actin-binding protein localized in dendritic spines of excitatory synapses, using 6-hydroxydopamine-lesioned rats repeatedly treated with levodopa. The cross-sectional area of drebrin-immunoreactive organelles, putative spines, in the dopamine-denervated striatum of the levodopa-induced dyskinesia model was greater than that of the Parkinson's disease model. Immunoelectron microscopic examinations confirmed that drebrin-immunoreactive spines became enlarged in the dopamine-denervated striatum of the levodopa-induced dyskinesia model, but not in the Parkinson's disease model. These results suggest that the development of levodopa-induced dyskinesia is associated with enlargement of dendritic spines at corticostriatal excitatory synapses.
[Show abstract][Hide abstract] ABSTRACT: We report a family of intravenous immunoglobulin (IVIg)-responsive X-linked Charcot-Marie-Tooth disease Type 1 (CMT1X) with a novel gap junction protein 1 mutation. Two of three siblings in the family complained of subacute motor and sensory impairment, and their symptoms improved after the administration of IVIg. Additional IVIg treatment also resulted in similar improvement. The other also showed a mild improvement on IVIg. It has been suggested that an immune-mediated process is involved in the progression of neuropathy in CMT1X. The finding in our report provides evidence of susceptibility to immune-mediated demyelinating neuropathy in some form of CMT1X. Superimposed demyelinating neuropathy as well as a gradual deterioration of neuropathy over decades can be a clinical manifestation of CMT1X.
Journal of Neurology 12/2012; · 3.58 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: No source of bleeding is detected by angiogram in 15-20% of patients with nonaneurysmal subarachnoid hemorrhage (SAH). This negative angiographic finding might suggest a benign prognosis. We describe a case of fatal SAH caused by Aspergillus arteritis without formation of fusiform dilatation or aneurysms. A 76-year-old man with a 2-month history of progressive visual loss due to pachymeningitis around the optic nerves suffered from SAH in the bilateral sylvian fissures. Repetitive serum galactomannan assay and angiography showed no abnormality. Post mortem examination revealed marked proliferation of Aspergillus in the granulomas of the frontal base dura mater. In addition, major trunks and several branches of the bilateral middle cerebral arteries were invaded by Aspergillus hyphae, which destroyed the walls in the absence of dilatation and aneurysms. Invasive aspergillosis of the CNS often forms a mycotic aneurysm. However, four autopsy cases of nonaneurysmal SAH due to invasive aspergillosis have been reported. The present case is the second autopsy case of Aspergillus arteritis without angiographic abnormality, resulting in fatal SAH. Aggressive and continuous antifungal therapy is absolutely necessary in suspected cases of invasive aspergillosis of the CNS, even if angiography is negative and therapeutic markers of aspergillosis are normal.
[Show abstract][Hide abstract] ABSTRACT: Amyotrophic lateral sclerosis (ALS) with demyelinating polyneuropathy is a rare condition. We describe two ALS patients with demyelinating neuropathy. Immunomodulatory therapies brought slight symptomatic benefits to the patients, but the treatments could not halt the progression of ALS. Chance coincidence of the two diseases is unlikely in view of the low prevalence. ALS, mainly consisting of progressive axonal degeneration, might show temporal demyelinating features of peripheral nerves both electrophysiologically and pathologically. The pathomechanism for the demyelination in ALS remains to be elucidated.
Internal Medicine 01/2012; 51(14):1917-21. · 0.97 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: A 53-year-old Japanese woman presented with myoclonus during the course of Guillain-Barré syndrome. The myoclonus was characterized by relatively regular involuntary movements, starting from proximal muscles of the right lower leg, and moving almost simultaneously towards the left lower leg and upper trunk. Surface electromyography revealed rhythmic synchronous discharges with 100-200 ms duration in the agonist and antagonist muscles at approximately 4 Hz. The jerk-locked back averaging, long latency reflexes, and somatosensory evoked potentials studies were normal. We report myoclonus due to radiculitis in a patient with Guillain-Barré syndrome.
Internal Medicine 01/2012; 51(15):2021-3. · 0.97 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: A 56-year-old man with a small infarct in the left precentral knob area induced both motor and sensory impairments that were similar to right ulnar nerve palsy. The only difference from ulnar nerve palsy was that the patient showed sensory disturbance not only on the ulnar side but also on the radial side of the right ring finger.
Journal of stroke and cerebrovascular diseases: the official journal of National Stroke Association 03/2011;
[Show abstract][Hide abstract] ABSTRACT: Intracranial venous congestion is a rare condition in hemodialysis patients with central venous occlusion. We report a patient with cerebral venous infarction resulting from high reflex flow into the cranium induced by an arteriovenous hemodialysis shunt in the arm and occlusion of the brachiocephalic vein. This case illustrates that abnormal extracranial venous circulation should be considered when cerebral venous congestion is assumed to produce neurologic symptoms in patients with an arteriovenous shunt.
Journal of stroke and cerebrovascular diseases: the official journal of National Stroke Association 01/2011; 20(4):381-3.
[Show abstract][Hide abstract] ABSTRACT: To determine whether skin biopsy is practically useful in the premortem diagnosis for Parkinson's disease (PD), we examined Lewy pathology in the skin of the chest wall and leg, obtained from 6-mm punch biopsies, using phosphorylated alpha-synuclein antibody in 20 patients with clinically diagnosed PD. Abnormal accumulation of alpha-synuclein was found in the chest skin of two (10%) of 20 patients, but not in the leg. Although skin biopsy combined with a conventional immunohistochemistry for alpha-synuclein is not sufficient as a diagnostic tool, we could firstly demonstrate Lewy pathology in premortem tissue. The skin remains to be a promising tissue to be examined for the premortem diagnosis of PD.
[Show abstract][Hide abstract] ABSTRACT: Cavernous angiomas of the bone are rare tumors. Skull cavernomas are even less frequent. Most cavernous angiomas of the bone are congenital tumors. In a review of the literature, we found only one case report of de novo generation of a skull cavernous angioma. We present a case of a 25-year-old woman who had experienced a head injury, and 7 years later exhibited a skull tumor at the exact region of the injury. We performed tumor resection and cranioplasty. Follow-up examinations revealed no recurrence or neurological defects. Pathological findings showed a cavernous angioma-like lesion with some atypical details. We finally diagnosed the lesion as a de novo cavernous angioma. Our case suggests that fine injury may result in de novo generation of bone cavernomas.
No shinkei geka. Neurological surgery 09/2009; 37(9):899-904. · 0.13 Impact Factor