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ABSTRACT: We report the case of a woman who developed limb clumsiness in her fifties and gait disturbance in her sixties. She was bedridden after bone fractures at age 75 and showed disorientation, slow eye movement, gaze palsy, ataxic speech, muscle atrophy and weakness, and areflexia with pathological reflex. She died of respiratory failure at age 85. This patient was diagnosed genetically as having spinocerebellar ataxia type 2 (SCA2), and the number of expanded CAG repeats was 41. At autopsy, the brain weighed 965 g, and the brainstem, cerebellum, frontal convexity and spinal cord were atrophic. Neuronal loss and gliosis were severe in the pontine nucleus, inferior olivary nucleus, cerebellar cortex, gracile and cuneate nuclei and moderate in the substantia nigra, cerebellar dentate nucleus, anterior horns of the spinal cord and dorsal root ganglia. Axonal loss was observed in the middle and inferior cerebellar peduncles, pyramidal tract and posterior column of the spinal cord. Senile plaques and neurofibrillary tangles (NFTs) were diffusely found in the cerebrum (plaque stage C; NFT stage IV). Expanded polyglutamine-immunoreactive inclusions in the neuronal cytoplasm were widely distributed in the CNS, and neuronal intranuclear inclusions were observed in the pontine nucleus and cerebral cortex. This patient in this autopsy case is a late-onset and aged patient with SCA2, and this is the first report of SCA2 combined with Alzheimer's disease (AD) pathology. Neuropathological findings in this patient, except for AD pathology, were consistent with those of reported SCA2 cases. However, the olivo-ponto-cerebellar system of this patient was relatively preserved and the cerebellar dentate nucleus was more involved as compared with previously reported cases. These results suggest that age at onset or the number of CAG repeat expansions could correlate with the distribution pattern of SCA2 neurodegeneration.
Neuropathology 12/2010; 31(5):510-8. · 2.02 Impact Factor
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Journal of Clinical Neuroscience 01/2010; 17(1):85, 155. · 1.25 Impact Factor
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ABSTRACT: Polyethylene glycol-interferon alpha (PEG-IFNalpha) has been used as the standard treatment for hepatitis C virus (HCV) infection. There have been no previous reports of polyradiculoneuropathy with anti-ganglioside antibodies induced by PEG-IFNalpha-2b. We report a 59-year-old man who developed polyradiculoneuropathy during treatment with PEG-IFN alpha-2b for chronic HCV infection. Serum levels of anti-asialo-GM1 (GA1) and anti-GM1 antibodies were elevated. Cessation of therapy with double filtration plasmapheresis resulted in marked improvement in his symptoms accompanied by a reduction in the antibody level. PEG-IFN alpha-2b may induce peripheral neuropathy mediated by anti-GA1 and anti-GM1 antibodies.
Internal Medicine 02/2009; 48(7):569-72. · 0.94 Impact Factor
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ABSTRACT: We report a patient with myasthenia gravis who had neurogenic muscle atrophy in association with external ophthalmoplegia and weakness of the upper limbs. Neurogenic changes in the limb muscles were found on needle electromyography and histological studies. Symptoms improved and atrophy of the limbs diminished after intravenous immunoglobulin and oral corticosteroid therapy. We concluded that functional interruption of the neuromuscular junction caused the neurogenic muscle atrophy and that this was relieved by appropriate therapy.
Muscle & Nerve 10/2007; 36(3):394-9. · 2.37 Impact Factor
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ABSTRACT: A family with familial amyloid polyneuropathy (FAP) due to a transthyretin (TTR) Leu58Arg mutation was investigated clinicopathologically. The proband presented with sensorimotor-autonomic polyneuropathy and autopsy demonstrated massive amyloid deposition in the peripheral nerves and heart. However, the mother was characterized by carpal tunnel syndrome and ocular vitreous opacities. Thus, there was considerable phenotypic heterogeneity among family members despite the identical TTR genotype.
Journal of the Neurological Sciences 10/2007; 260(1-2):236-9. · 2.35 Impact Factor
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ABSTRACT: Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis affects vessels of various diameters in various tissues or organs, sometimes associated with neurological complications. A 77-year-old man developed dysphagia, hoarseness, dysgeusia, gait unsteadiness, and right temporalgia; neurological examination revealed multiple cranial neuropathies. Laboratory studies demonstrated severe inflammatory responses, elevation of perinuclear ANCA, and mild proteinuria. Magnetic resonance imaging of the brain showed dural enhancement in the cerebellar tentorium. Biopsy revealed necrotizing glomerulonephritis in the kidney, and temporal arteritis without giant cells in the temporal artery. The patient was diagnosed with microscopic polyangitis presenting with temporal arteritis and multiple cranial nerve involvement, and was treated with predonisolone, after which the symptoms and laboratory data showed improvement. This is the first case of ANCA-associated vasculitis with pathologically verified lesions in the temporal artery as well as in the kidney. Thus, ANCA-associated vasculitis may simultaneously affect large vessels such as temporal artery, as well as microvessels in the kidney, nerves and other organs.
Journal of the Neurological Sciences 06/2007; 256(1-2):81-3. · 2.35 Impact Factor
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ABSTRACT: The authors examined blood pressure, glucose, insulin, and neurotensin before and after intake of 75 g glucose with or without voglibose in 28 neurologic patients and 20 healthy controls. Voglibose significantly prevented hypotension and neurotensin increment after glucose intake and had no influence on glucose or insulin increment. These results suggest that voglibose benefits postprandial hypotension.
Neurology 06/2006; 66(9):1432-4. · 8.31 Impact Factor
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Annals of the New York Academy of Sciences 02/2006; 841(1):625 - 635. · 3.15 Impact Factor
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Annals of the New York Academy of Sciences 02/2006; 841(1):542 - 545. · 3.15 Impact Factor
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ABSTRACT: We report a 50-year-old woman with primary Sjögren's syndrome (SjS) who initially showed forgetfulness, and later developed disturbance of consciousness. In addition to aseptic meningoencephalitis revealed by cerebrospinal fluid examination and magnetic resonance imaging (MRI), the presence of serum anti-SS-A and anti-SS-B antibodies and inflammatory findings in lip biopsy indicated primary SjS. Fluid attenuated inversion recovery (FLAIR) of MRI revealed well defined small, high signal intensity areas in the cortex involving the subcortical white matter. Corticosteroid therapy resulted in rapid and nearly complete resolution of the cortical lesions with marked improvement of the clinical manifestations. Memory disturbance is a rare initial manifestation in meningoencephalitis associated with SjS. Our patient with SjS showed inflammatory cortical lesions on MRI, which were reversed by corticosteroid therapy.
Journal of the Neurological Sciences 06/2005; 232(1-2):111-3. · 2.35 Impact Factor
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ABSTRACT: The patient was a 19-year-old woman who presented with hemiatrophy and diminished superficial sensation on the left side of her body including her face. She had a past history of tonic-clonic seizures accompanied by left hemiparesis in late childhood. Brain CT demonstrated dilatation of the frontal sinus, calvarial thickening, cerebral hemiatrophy and dilatation of the lateral ventricle on the right side. Brain MRI showed atrophy of the right cerebrum and midbrain and dilatation of the lateral ventricle on T1-weighted images, as well as a high signal intensity area from the parietal to the occipital lobe on T2-weighted images. These findings are suggestive of an episode that may have caused a transient ischemia through the right cerebral hemisphere after the intrauterine period.
Journal of Clinical Neuroscience 06/2003; 10(3):367-71. · 1.25 Impact Factor
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ABSTRACT: We report a 17-year-old man showing myoclonic involuntary movement (IVM) associated with chronic manganese (Mn) poisoning. The patient, a welder, showed myoclonic IVM mainly in the right upper and lower extremities, elevated levels of Mn in the blood and hair and high-intensity signals in the globus pallidus on T1-weighted MR images. Chelation therapy resulted in improvement of the myoclonic IVM and MRI abnormalities. This is the first report of Mn poisoning characterized by myoclonic IVM without parkinsonism.
Journal of the Neurological Sciences 08/2002; 199(1-2):93-6. · 2.35 Impact Factor
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ABSTRACT: We report a 57-year-old man with progressive supranuclear palsy (PSP) showing acquired stuttering (AS) as an early symptom. He had noticed micrographia at age 48, and thereafter he began to suffer from progressive speech disturbance at age 49. Neurological examination at age 57 revealed prominent acquired stuttering, supranuclear vertical gaze palsy, axial rigidity, disturbance of postural reflex, motor perseveration, and catalepsy, but no aphasia. A brain MRI study demonstrated atrophy of the midbrain tegmentum and dilatation of the third ventricle with a few lacunar infarcts in the basal ganglia. Anti-parkinsonian drugs were ineffective. We diagnosed his illness as PSP. His speech was characterized by repetition of sounds and syllables. It was more dominant at repetition of sentences than at that of words, and was improved with rhythmic stimulation. Although pathophysiology underlying AS remains unknown, the AS in this patient seems to be closely related to his motor perseveration and catalepsy. These symptoms may be caused by the disturbance of dopaminergic system from midbrain to limbic system and frontal cortex as reported in PSP. In conclusion, As can be an early and prominent symptom which may be related to characteristic impairment of the dopaminergic system.
Rinsho shinkeigaku = Clinical neurology 03/2002; 42(2):178-80.
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ABSTRACT: The induction of myasthenia gravis depends on linked recognition of antigenic sites of acetylcholine receptor (AChR) by B-cells and T-cells. The former is conformationally restrained, and the latter is under the MHC class II restriction. We synthesized an artificially formed peptide (model peptide) by coupling the α190–195 selected as B-cell site and cholinergic binding site and the α-107–116 selected as T-cell site and agretope with the intervening chain segment aligned as Asn-Pro-Gly-Gly (NPGG) to adopt β-turn conformation. This model peptide, α107–116-NPGG-α190–195, was potently immunogenic in Lewis rats to provoke anti-peptide antibody reactive with native AChR and to induce the animal model of immunopharmacologic blockade of acetylcholine (ACh)-binding site. Low immunogenicity compared with this was found when using natural peptides predicted as sequences of B-cell site or T-cell site and the peptide synthesized by linking both without intervention of NPGG. The α190–195 had no function of cholinergic binding either as a single segment or as part of the conformation-modified peptides; results suggest that the conformation modified for high immunogenicity does not assume the bioactive conformation for ACh-binding.
Journal of the Neurological Sciences.
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ABSTRACT: We report three related patients with autosomal dominant hereditary motor and sensory neuropathy (HMSN). An unusual and characteristic feature was calf enlargement, caused by muscle fiber hypertrophy predominantly of type 1 fibers. None of the family members showed atrophy of the legs. Sural nerve pathology disclosed marked loss of myelinated fibers and numerous onion bulb formations. While cases of HMSN with calf muscle hypertrophy have been reported, the present pedigree was different from that in any of the previous cases in that no family member showed clinically apparent leg atrophy.
Journal of the Neurological Sciences.
