• Journal of Veterinary Clinics
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• v.34 no.2
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• pp.94-97
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• 2017

A 10-year-old male Schnauzer dog presented with a 1-week history of ataxia, right-sided hemiparesis, and right-sided head tilt. On the basis of magnetic resonance imaging (MRI) with neurological examination and cerebrospinal fluid analysis results, a primary brain tumor was suspected. Therapy with imatinib mesylate plus hydroxyurea for 7 weeks was not effective and clinical signs worsened. Chemotherapy was then changed to lomustine plus hydroxyurea. Although the existing clinical signs continued, they did not deteriorate. No change in mass size was observed in subsequent MRI. The subject suddenly died from dyspnea 388 days after initial presentation. In this case, choroid plexus papilloma was definitively diagnosed based on histopathological findings.

• Journal of Veterinary Clinics
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• v.34 no.2
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• pp.152-155
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• 2017

A 5-year-old intact female Maltese dog was referred to us with a history of left side head tilt and ataxia. Based on magnetic resonance imaging (MRI) and cerebrospinal fluid analysis results, the patient was tentatively diagnosed to meningoencephalitis of unknown etiology (MUE). Clinical signs were gradually improved and diminished after imatinib mesylate plus prednisolone therapy. At 90 days after treatment, we performed MRI recheck and brain inflammatory lesions were significantly improved compared with initial MRI results. However, the present patient showed head turn and tetraparesis after anesthesia and euthanized according to client's request. This report describes the clinical findings, serial magnetic resonance imaging characteristics under imatinib mesylate treatment in a MUE case.

• Annals of Clinical Neurophysiology
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• v.3 no.2
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• pp.156-159
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• 2001

Miller Fisher syndrome(MFS) has been the focus of conflicting opinions regarding the peripheral versus the central nature of the site of major neural injury. We present our electrophysiological findings in one case of MFS to help clarify the pattern of peripheral nerve injury in this syndrome. A 45-year-old man visited our hospital due to sudden diplopia. Initial examination revealed internuclear opthalmoplegia. The next day, his symptoms rapidly aggravated to complete external ophthalmoplegia, ataxia, and areflexia with hand and foot numbness. Serial electrophysiological studies were performed. The results of brainstem evoked potential(BAEP) and blink reflex were normal in the serial studies. Motor and sensory nerve conduction study(NCS) were normal findings in second hospital day, but ulnar sensory nerve shows no sensory nerve action potential(SNAP) and sural sensory conduction velocity was delayed in 7th hospital day. Our patient's clinical presentation began to improve on 15th hospital day, and his electrophysiologic study showed improvement on 29th hospital day. We believe that all the manifestations of MFS can be explained by the involvement of peripheral nerves without brainstem or cerebellar lesion with the serial electrophysiological studies.

• Journal of Veterinary Clinics
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• v.35 no.1
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• pp.30-33
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• 2018

A 7-month-old female Bichon Frise, displaying neck pain and ataxia, was diagnosed with craniocervical junction abonormality (CJA), along with atlantoaxial subluxation. Surgical fixation of the atlantoaxial subluxation was performed, using cortical screws and bone cement, along with an odontoidectomy. After surgery, nonsteroidal anti-inflammatory medication was prescribed for pain control, and a loose bandage was applied to the neck. Mild ambulatory tetraparesis remained 1 week after surgery. Three weeks after surgery, the range of neck motion was near normal, and clinical signs had improved. CJA should be considered as a differential diagnosis in dogs with cervical myelopathy. Surgical stabilization using cortical screws and bone cement through a ventral approach can be successful in dogs with CJA and atlantoaxial subluxation.

• Brain & NeuroRehabilitation
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• v.10 no.1
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• pp.1-6
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• 2017

The brain necrosis induced by radiation therapy (RT) is an uncommon pathology of brain. A case of spontaneous hemorrhage at necrotic brain is also rare. A 52-year-old man who had nasopharyngeal carcinoma and had been treated with RT, presented with gait disturbance, dizziness, ataxia, dysarthria, and dysphagia. Magnetic resonance imaging (MRI) demonstrated progressed radiation necrosis of pons, and spontaneous hemorrhage at the site of necrosis. The hematoma was diminished by conservative treatment. However, the patient's neurologic symptoms did not recover. Two years later, spontaneous bleeding recurred at necrotic brain. His neurologic symptoms worsened. One year later, his neurologic symptoms were more progressed. He showed severe dysphagia, profound weakness and respiratory failure. This case provides the description of relapsed spontaneous hemorrhage and medullary dysfunction caused by pontine necrosis and progressed post-radiation injury, complicated with hemorrhage, and urges caution in that the necrotic brain tissue may be vulnerable to bleeding.

• Molecules and Cells
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• v.42 no.3
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• pp.210-217
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• 2019

The maintenance of mitochondrial function is closely linked to the control of senescence. In our previous study, we uncovered a novel mechanism in which senescence amelioration in normal aging cells is mediated by the recovered mitochondrial function upon Ataxia telangiectasia mutated (ATM) inhibition. However, it remains elusive whether this mechanism is also applicable to senescence amelioration in accelerated aging cells. In this study, we examined the role of ATM inhibition on mitochondrial function in Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) cells. We found that ATM inhibition induced mitochondrial functional recovery accompanied by metabolic reprogramming, which has been known to be a prerequisite for senescence alleviation in normal aging cells. Indeed, the induced mitochondrial metabolic reprogramming was coupled with senescence amelioration in accelerated aging cells. Furthermore, the therapeutic effect via ATM inhibition was observed in HGPS as evidenced by reduced progerin accumulation with concomitant decrease of abnormal nuclear morphology. Taken together, our data indicate that the mitochondrial functional recovery by ATM inhibition might represent a promising strategy to ameliorate the accelerated aging phenotypes and to treat age-related disease.

• Journal of Veterinary Clinics
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• v.36 no.3
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• pp.180-183
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• 2019

A 7-year-old, male Maltese dog with a body weight of 2.8 kg was presented with a history of hind limbs ataxia that progressed to tetraparesis over a one-month period. Based on physical and neurological examinations, tetraparesis with concomitant UMN signs, kyphosis and severe neck pain were identified. On MRI scan, we tentatively diagnosed this patient as a primary intramedullary spinal cord tumor. Therapy with lomustine plus hydroxyurea and prednisolone was initiated and the clinical signs rapidly improved. The patient was regularly checked by MRI scan and the range of the mass was gradually reduced to complete remission for 11 months. About 19 months after treatment, the patient showed anemia and hematochezia which suspected as adverse effects of chemotherapy. The condition was getting worse over 2 months and the patient suddenly expired 657 days after initial presentation. On histopathological examination, the spinal cord sample was identified as a neuronal atrophy without evidence of tumor cell.

• Journal of Acupuncture Research
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• v.38 no.1
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• pp.66-71
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• 2021

Miller Fisher syndrome (MFS) is a rare variant of Guillain-Barré syndrome characterized by ocular paralysis, ataxia, and insensitivity. This report describes the effect of Complex Korean Medicine Treatment (CKMT) on a patient previously diagnosed with MFS presenting with diplopia and facial palsy. The distance at which diplopia occurs, the diplopia questionnaire, the range of diplopia, the degree of facial paralysis, and the degree of ptosis were evaluated at the time of admission and weekly for 1 month. After receiving CKMT for 4 weeks the 62-year-old female had improved symptoms of diplopia, bilateral facial palsy and ptosis caused by MFS. These results show the significant association of MFS with facial paralysis and the improvement achieved with CKMT.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.137-141
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• 2021

Genetic causes of developmental and epileptic encephalopathy (DEE) have been rapidly uncovered from mid-2010s. The mutations of gene enconding calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A) are recently detected in DEE, which gene is already known well in familial hemiplegic migrine type 1 or episodic ataxia type 2. Ketogenic diet therapy (KDT) is effective in some DEE, which data is short in CACNA1A encephalopathy. A 3-month-old male with global developmental delay and multidrug-resistant focal seizures was diagnosed as epilepsy of infancy with migrating focal seizures (EIMFS). Brain magnetic resonance imaging and metabolic screening were all normal. Whole exome sequencing revealed two variants of CACNA1A: c.899A>C, and c.2808del that is from his mother. His seizures disappeared within 3 days whenever on KDT, which recurred without it. To our knowledge, this rare case of EIMFS with novel mutations of CACNA1A, is the first report in CACNA1A encephalopathy becoming seizure-free on KDT.

• Genomics & Informatics
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• v.20 no.2
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• pp.24.1-24.8
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• 2022

Hypomyelinating leukodystrophy type 2 (HLD2), is an inherited genetic disease of the central nervous system caused by recessive mutations in the gap junction protein gamma 2 (GJC2/GJA12). HLD2 is characterized by nystagmus, developmental delay, motor impairments, ataxia, severe speech problem, and hypomyelination in the brain. The GJC2 sequence encodes connexin 47 protein (Cx47). Connexins are a group of membrane proteins that oligomerize to construct gap junctions protein. In the present study, a novel missense mutation gene c.760G>A (p.Val254Met) was identified in a patient with HLD2 by performing whole exome sequencing. Following the discovery of the new mutation in the proband, we used Sanger sequencing to analyze his affected sibling and parents. Sanger sequencing verified homozygosity of the mutation in the proband and his affected sibling. The autosomal recessive inheritance pattern was confirmed since Sanger sequencing revealed both healthy parents were heterozygous for the mutation. PolyPhen2, SIFT, PROVEAN, and CADD were used to evaluate the function prediction scores of detected mutations. Cx47 is essential for oligodendrocyte function, including adequate myelination and myelin maintenance in humans. Novel mutation p.Val254Met is located in the second extracellular domain of Cx47, both extracellular loops are highly conserved and probably induce intramolecular disulfide interactions. This novel mutation in the Cx47 gene causes oligodendrocyte dysfunction and HLD2 disorder.