Takahashi K.,National Hospital Organization Iou Hospital |
Takahashi K.,Kanazawa University |
Tanaka K.,Kanazawa Medical University
Journal of Neuroimmunology
Previous reports of multiple sclerosis (MS) with autoantibodies might include neuromyelitis optica (NMO). We investigated the frequency of autoreactive antibodies (AR) in both MS and NMO. Systemic lupus erythematosus (SLE)-associated autoantibodies such as anti-Sm antibodies, anti-single stranded DNA antibodies and lupus anticoagulants were only identified in MS, whereas SLE itself is more commonly associated with NMO. Moreover, when magnetic resonance imaging features between autoreactive antibody-positive (AR(+))MS and -negative (AR(-))MS were compared, AR(+)MS cases showed significantly fewer than 3 periventricular lesions compared to AR(-)MS cases. These results may indicate different pathogenetic mechanisms underlying AR(+)MS and AR(-)MS. © 2012 Elsevier B.V. Source
Komaki H.,National Center Hospital |
Hayashi Y.K.,National Institute of Neuroscience |
Tsuburaya R.,National Institute of Neuroscience |
Sugie K.,Nara Medical University |
And 16 more authors.
Mutations in LMNA cause wide variety of disorders including Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and congenital muscular dystrophy. We recently found a LMNA mutation in a patient who was previously diagnosed as infantile onset inflammatory myopathy. In this study, we screened for LMNA mutations in 20 patients suspected to have inflammatory myopathy with onset at 2. years or younger. The diagnosis of inflammatory myopathy was based on muscle pathology with presence of perivascular cuffing and/or endomysial/perimysial lymphocyte infiltration. We identified heterozygous LMNA mutations in 11 patients (55%), who eventually developed joint contractures and/or cardiac involvement after the infantile period. Our findings suggest that LMNA mutation should be considered in myopathy patients with inflammatory changes during infancy, and that this may help avoid life-threatening events associated with laminopathy. © 2011 Elsevier B.V. Source
Ishida C.,National Hospital Organization Iou Hospital |
Komai K.,National Hospital Organization Iou Hospital |
Yonezawa K.,Yonezawa Hospital |
Sakajiri K.-I.,Kanazawa Medical Center |
And 3 more authors.
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 965g, 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. © 2010 Japanese Society of Neuropathology. Source
Wakisaka A.,National Hospital Organization Iou Hospital |
Niida Y.,Kanazawa University |
Yamada S.,National Hospital Organization Iou Hospital |
Tsuji T.,National Hospital Organization Iou Hospital |
And 4 more authors.
No To Hattatsu
Objective: To examine the risk factors of hypocarnitinemia and hypocarnitinemic symptoms in children and adults with severe physical and mental disabilities. Methods: The status of hypocarnitinemia as well as the related symptoms were assessed in a total of 78 children and adults with severe physical and mental disabilities who were admitted to National Hospital Organization Iou National Hospital. Their enteral diets and the medication of antiepileptic drugs were evaluated. Results: Markedly decreased blood carnitine levels were noted in patients undergoing an enteral diet without carnitine supplementation as well as in those receiving a combination of valproate sodium (VPA) and phenobarbital (PB). These hypocarnitinemic patients tended to have more frequent episodes of hypoglycemia and hyperammonemia. Conclusions: Supplemental L-carnitine is needed in patients receiving an enteral diet free of carnitine, those with combination therapy of VPA and PB under oral feeding conditions, and those who develop hyperammonemia during VPA therapy. Patients who received a carnitine-supplemented enteral diet maintained their serum carnitine levels with a relatively low supplemental dose of carnitine. Source
Ishida C.,National Hospital Organization Iou Hospital |
Kobayashi K.,Awazu Neuropsychiatric Sanatorium |
Kitamura T.,Ishikawa Prefectual Takamatsu Hospital |
Ujike H.,Ujike Nishiguchi Clinic |
And 2 more authors.
We report the autopsy results of a patient with familial dementia who was diagnosed as having frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with an R406W mutation in the microtubule-associated protein tau (MAPT) gene. This patient showed Alzheimer's disease (AD)-like clinical manifestations from the age of 59, with reduced β-amyloid1-42 (Aβ42) and elevated total and phosphorylated tau levels in the cerebrospinal fluid. He did not present with any apparent parkinsonism throughout the disease course. His autopsy at age 73 showed atrophy and neurodegeneration in many brain regions, particularly in the antero-medial temporal cortex and hippocampus, followed by the frontal lobes, with abundant neurofibrillary tangles. In addition, a diffuse distribution of Aβ-positive senile plaques, including many neuritic plaques, was observed and classified as stage C according to the Consortium to Establish a Registry for Alzheimer's Disease (CERAD) criteria. These results suggest that analyzing of the MAPT gene is essential for diagnosing familial dementia, even if amyloid markers such as Aβ42 in the cerebrospinal fluid and amyloid imaging are positive, or if neuropathological findings indicate a diagnosis of AD. © 2014 Japanese Society of Neuropathology. Source