Publications (9)18.12 Total impact
-
Article: Intrathecal shRNA-AAV9 inhibits target protein expression in the spinal cord and dorsal root ganglia of adult mice.
[show abstract] [hide abstract]
ABSTRACT: Gene therapy for neurological diseases requires efficient gene delivery to target tissues in the central and peripheral nervous systems. Although adeno-associated virus is one of the most promising vectors for clinical use against neurological diseases, it is difficult to get it across the blood-brain barrier. A clinically practical approach to using a vector based on adeno-associated virus to decrease the expression of a specific gene in both the central and the peripheral nervous system has yet to be established. Here, we analyzed whether upper lumbar intrathecal administration of a therapeutic vector incorporating adeno-associated virus and short-hairpin RNA against superoxide dismutase-1 bypassed the blood-brain barrier to target the spinal cord and dorsal root ganglia. The therapeutic vector effectively suppressed mRNA and protein expression of endogenous superoxide dismutase-1 in the lumbar spinal cord and dorsal root ganglia. Moreover, neither neurological side effects nor toxicity due to the incorporated short-hairpin RNA occurred after the injection. We propose that this approach could be developed into novel therapies for motor neuron diseases and chronic pain conditions, such as complex regional pain syndrome, through silencing of the genes responsible for pathologies in the spinal cord and dorsal root ganglia.Human gene therapy methods. 05/2012; 23(2):119-27. -
Article: Tremor in Klinefelter’s syndrome improved by testosterone administration
[show abstract] [hide abstract]
ABSTRACT: Tremor in Klinefelter’s syndrome is believed to be essential tremor since the publication of “Klinefelter’s syndrome and essential tremor” in 1969. However, the author also stated that tremor in Klinefelter’s syndrome might differ from essential tremor. A 71-year-old man with Klinefelter’s syndrome who suffers from postural hand tremor is described. The electromyogram indicated lower motor neuron disturbance and chronic neurogenic change. The muscle biopsy indicated neurogenic muscle atrophy. Upon testosterone administration, the amplitude of tremor was reduced and a gradual improvement in handwriting was observed. The tremor in this patient was different from essential tremor. The foresight by Baughman in 1969 proved to be true in this patient. This case report provides new insights into the pathogenesis and treatment of tremor in Klinefelter’s syndrome, which would benefit patients who suffer from the tremor. KeywordsTremor-Klinefelter’s syndrome-Testosterone-Motor neuron disturbanceJournal of Neurology 04/2012; 256(11):1924-1925. · 3.47 Impact Factor -
Article: Myotonic dystrophy and lipoma: a new association.
[show abstract] [hide abstract]
ABSTRACT: A 58-year-old man developed muscle weakness and had more than 1,000 CTG repeats in the myotonin protein kinase gene. He was diagnosed as having myotonic dystrophy. At the time of diagnosis, a large tumor was detected in his abdominal cavity on CT scan examination. He died from pneumonia 6 years later. At autopsy, the abdominal tumor was diagnosed as a lipoma. Several types of tumor have been reported to be associated with myotonic dystrophy type 1; however, this is the first detailed clinical case demonstrating the possible relationship between myotonic dystrophy and lipoma.Neurological Sciences 12/2011; · 1.32 Impact Factor -
Article: Sialidosis type I with neoplasms in siblings: the first clinical cases.
Neurological Sciences 08/2011; 32(4):737-8. · 1.32 Impact Factor -
Article: Tremor in Klinefelter's syndrome improved by testosterone administration.
[show abstract] [hide abstract]
ABSTRACT: Tremor in Klinefelter's syndrome is believed to be essential tremor since the publication of "Klinefelter's syndrome and essential tremor" in 1969. However, the author also stated that tremor in Klinefelter's syndrome might differ from essential tremor. A 71-year-old man with Klinefelter's syndrome who suffers from postural hand tremor is described. The electromyogram indicated lower motor neuron disturbance and chronic neurogenic change. The muscle biopsy indicated neurogenic muscle atrophy. Upon testosterone administration, the amplitude of tremor was reduced and a gradual improvement in handwriting was observed. The tremor in this patient was different from essential tremor. The foresight by Baughman in 1969 proved to be true in this patient. This case report provides new insights into the pathogenesis and treatment of tremor in Klinefelter's syndrome, which would benefit patients who suffer from the tremor.Journal of Neurology 08/2009; 256(11):1924-5. · 3.47 Impact Factor -
Article: Shakuyaku-kanzo-to induces pseudoaldosteronism characterized by hypokalemia, rhabdomyolysis, metabolic alkalosis with respiratory compensation, and increased urinary cortisol levels.
[show abstract] [hide abstract]
ABSTRACT: Licorice, the primary ingredient of the Japanese herbal medicine shakuyaku-kanzo-to, can cause pseudoaldosteronism. Thus, shakuyaku-kanzo-to can cause this condition. A 79-year-old woman was brought to the emergency room. She had been experiencing general fatigue, numbness in the hands, and weakness in the lower limbs and could not stand up without assistance. She presented with hypokalemia (potassium level, 1.7 mEq/L), increased urinary excretion of potassium (fractional excretion of K, 21.2%), abnormalities on an electrocardiogram (flat T waves in II, III, AVF, and V1-6), rhabdomyolysis (creatine kinase level, 28,376 U/L), myopathy, metabolic alkalosis with respiratory compensation (O(2) flow rate, 2 L/min; pH, 7.473; pco(2), 61.0 mm Hg; po(2), 78.0 mm Hg; HCO(3), 44.1 mmol/L), hypertension (174/93 mm Hg), hyperglycemia (blood glucose level, 200-300 mg/dL), frequent urination, suppressed plasma renin activity (0.1 ng/mL/hour), decreased aldosterone levels (2.6 ng/dL), and increased urinary cortisol levels (600.6 microg/day; reference range, 26.0-187.0 microg/day). In this case, the observed reduction in the urinary cortisol levels, from 600.6 to 37.8 microg/day, led to a definitive diagnosis of pseudoaldosteronism instead of the apparent mineralocorticoid excess syndrome. Discontinuing shakuyaku-kanzo-to treatment and administering spironolactone and potassium proved effective in improving the patient's condition. Medical practitioners prescribing shakuyaku-kanzo-to should take into account the association between licorice, which is its main ingredient, and pseudoaldosteronism.Journal of alternative and complementary medicine (New York, N.Y.) 05/2009; 15(4):439-43. · 1.69 Impact Factor -
Article: Metastatic CNS lymphoma presenting with periventricular dissemination - MRI and neuropathological findings in an autopsy case.
[show abstract] [hide abstract]
ABSTRACT: Metastatic CNS lymphoma usually manifests as pachymeningeal or leptomeningeal infiltrates, and periventricular dissemination is rare. A 70-year old man first noticed a mass in the left supraclavicular fossa, and then presented with bilateral parkinsonism, followed by consciousness disturbance. Fluid attenuated inversion recovery (FLAIR) image of brain MRI demonstrated hyperintensities at the parenchyma around the lateral ventricle, third ventricle, and fourth ventricle. Gadolinium-enhanced T1-weighted image demonstrated enhancement along the whole wall of the ventricle. Biopsy of the left supraclavicular lymph nodes established a diagnosis of diffuse large B-cell lymphoma. The patient died of multiple organ failure about 5 months after the onset. Autopsy disclosed periventricular dissemination of lymphoma cells that was most severe around the lateral ventricle. We considered that the lymphoma cells entered the ventricular system through the choroid plexus of the lateral ventricle, followed by dissemination of the periventricular parenchyma.Journal of the Neurological Sciences 12/2008; 277(1-2):109-13. · 2.35 Impact Factor -
Article: Antihistamine-associated myoclonus: A case report.
Movement Disorders 07/2008; 23(11):1615-6. · 4.51 Impact Factor -
Article: [Slowly progressive anarthria and disturbed voluntary respiration--a case report].
[show abstract] [hide abstract]
ABSTRACT: A 68 year-old right-handed male initially felt an abnormal sensation in the throat and slight difficulties in phonation and articulation. The difficulties slowly progressed. Dementia and kinetic disorder of limbs has not been observed over two years after onset. Although bilateral cortico-bulbar tract sign such as pathological laughter was noted. His articulatory movements were small and indistinct. Phonation was slightly explosive and breathy as if panting out. His clinical feature could be differentiated from primary progressive aphasia because he was not aphasic with excellent word finding, and fell into the realm of progressive anarthria. On SPECT, hypoperfusion was seen in the left frontal region, the left parieto-temporal region, and the right frontal region to a lesser extent. A peculiarity of the patient was in that he had accompanied a difficulty in voluntary inspiration such as taking a deep breath. Because fiberoptic examination of the larynx demonstrated that the vocal cords opened normally when he tried to take a deep breath, the difficulty in inspiration was best explained by loss of voluntary control over diaphragmatic contractions. On voluntary expiration, sustained blowing through the pursued lips (soft blowing) was not successful either. On the other hand, blowing out several candles one by one or blowing up a balloon (hard blowing) was successful. In soft blowing, a voluntary and meticulous control of the diaphragm is necessary to counteract the spontaneous recoil of the lungs. In hard blowing, expiratory muscles may contract forcefully without participation of the diaphragm. This discrepancy is again explained by loss of voluntary control over the diaphragmatic movements. This deficit could have affected phonation; maintaining an adequate vibration on the vocal cords for a certain period of time, it is necessary to control the subglotal pressure at an appropriate level by diaphragmatic control. We believe this is the first patient with a progressive anarthria in which defective voluntary respiration possibly caused impairment of phonation.Brain and nerve = Shinkei kenkyū no shinpo 07/2007; 59(6):629-32.
Top co-authors
Top Journals
Institutions
-
2009
-
Tokyo Metropolitan Ohtsuka Hospital
Tokyo, Tokyo-to, Japan
-
