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  1. Article ; Online: Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease.

    Yamaguchi-Takegami, Nanaka / Takahashi, Akiko / Mitsui, Jun / Sugiyama, Yusuke / Chikada, Ayaka / Porto, Kristine Joyce L / Takegami, Naoki / Sakuishi, Kaori / Ishiura, Hiroyuki / Yamada, Kaoru / Shimizu, Jun / Tsuji, Shoji / Toda, Tatsushi

    Internal medicine (Tokyo, Japan)

    2023  Volume 63, Issue 6, Page(s) 861–865

    Abstract: We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed with GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The neurological ... ...

    Abstract We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed with GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The neurological manifestations included myoclonic seizures and progressive cognitive decline. Although it is rare for GD patients to first develop neurologic manifestations at such an advanced age, physicians engaged in long-term care for GD patients should be alert for this possibility.
    MeSH term(s) Aged ; Female ; Humans ; Enzyme Replacement Therapy ; Gaucher Disease/complications ; Gaucher Disease/diagnosis ; Gaucher Disease/drug therapy ; Glucosylceramidase/therapeutic use ; Long-Term Care ; Seizures/etiology
    Chemical Substances Glucosylceramidase (EC 3.2.1.45)
    Language English
    Publishing date 2023-08-09
    Publishing country Japan
    Document type Case Reports ; Journal Article
    ZDB-ID 32371-8
    ISSN 1349-7235 ; 0021-5120 ; 0918-2918
    ISSN (online) 1349-7235
    ISSN 0021-5120 ; 0918-2918
    DOI 10.2169/internalmedicine.1699-23
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 240: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease.

    Matsukawa, Takashi / Porto, Kristine Joyce L / Mitsui, Jun / Chikada, Ayaka / Ishiura, Hiroyuki / Takahashi, Yuji / Nakamoto, Fumiko Kusunoki / Seki, Tomonari / Shiio, Yasushi / Toda, Tatsushi / Tsuji, Shoji

    Cerebellum (London, England)

    2022  Volume 23, Issue 1, Page(s) 22–30

    Abstract: While multiple system atrophy (MSA) has been considered a sporadic disease, there were previously reported multiplex families with MSA. Furthermore, several families with multiple patients with MSA and Parkinson's disease (PD) have been reported. As ... ...

    Abstract While multiple system atrophy (MSA) has been considered a sporadic disease, there were previously reported multiplex families with MSA. Furthermore, several families with multiple patients with MSA and Parkinson's disease (PD) have been reported. As genetic risk factors for MSA, functionally impaired variants in COQ2 and Gaucher-disease-causing GBA variants have been reported. While it has been established that GBA variants are associated with PD, COQ2 may also be associated with PD. In 672 patients with MSA, we identified 12 multiplex families of patients with MSA and PD in first-degree relatives. We conducted a detailed analysis of the clinical presentations of these patients and genetic analyses of GBA and COQ2. In the multiplex families, a patient with MSA with predominant parkinsonism (MSA-P) was observed in nine families, while a patient with MSA cerebellar subtype (MSA-C) was observed in three families. Six families had siblings with MSA and PD, five families had a parent-offspring pair with MSA and PD, and in one family, a sibling and a parent of an MSA patient had PD. In genetic analyses of these patients, GBA variants were identified in one of the 12 MSA patients and two of the seven PD patients. Functionally impaired variants of COQ2 were identified in two of the 12 MSA patients and not identified in the seven PD patients. This study further emphasizes the occurrence of MSA and PD in first-degree relatives, raising the possibility that a common genetic basis underlies MSA and PD. Even though variants of COQ2 and GBA were identified in some patients in multiplex families with MSA and PD, it is necessary to further explore as yet unidentified genetic risk factors shared by MSA and PD.
    MeSH term(s) Humans ; Multiple System Atrophy/genetics ; Parkinson Disease/genetics ; Alkyl and Aryl Transferases
    Chemical Substances Alkyl and Aryl Transferases (EC 2.5.-)
    Language English
    Publishing date 2022-09-13
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2112586-7
    ISSN 1473-4230 ; 1473-4222
    ISSN (online) 1473-4230
    ISSN 1473-4222
    DOI 10.1007/s12311-022-01426-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5795: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  3. Article ; Online: A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis.

    Mitsutake, Akihiko / Matsukawa, Takashi / Porto, Kristine Joyce L / Sato, Tatsuya / Katsumata, Junko / Seki, Tomonari / Maekawa, Risa / Hideyama, Takuto / Tanaka, Masaki / Ishiura, Hiroyuki / Toda, Tatsushi / Tsuji, Shoji / Shiio, Yasushi

    Journal of the neurological sciences

    2020  Volume 418, Page(s) 117091

    MeSH term(s) Basal Ganglia Diseases ; Brain/diagnostic imaging ; Dystonia/complications ; Dystonia/genetics ; Humans ; Japan
    Language English
    Publishing date 2020-08-11
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 80160-4
    ISSN 1878-5883 ; 0022-510X ; 0374-8642
    ISSN (online) 1878-5883
    ISSN 0022-510X ; 0374-8642
    DOI 10.1016/j.jns.2020.117091
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 308: Show issues Location:
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  4. Article ; Online: High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial.

    Mitsui, Jun / Matsukawa, Takashi / Uemura, Yukari / Kawahara, Takuya / Chikada, Ayaka / Porto, Kristine Joyce L / Naruse, Hiroya / Tanaka, Masaki / Ishiura, Hiroyuki / Toda, Tatsushi / Kuzuyama, Haruko / Hirano, Mari / Wada, Ikue / Ga, Toshio / Moritoyo, Takashi / Takahashi, Yuji / Mizusawa, Hidehiro / Ishikawa, Kinya / Yokota, Takanori /
    Kuwabara, Satoshi / Sawamoto, Nobukatsu / Takahashi, Ryosuke / Abe, Koji / Ishihara, Tomohiko / Onodera, Osamu / Matsuse, Dai / Yamasaki, Ryo / Kira, Jun-Ichi / Katsuno, Masahisa / Hanajima, Ritsuko / Ogata, Katsuhisa / Takashima, Hiroshi / Matsushima, Masaaki / Yabe, Ichiro / Sasaki, Hidenao / Tsuji, Shoji

    EClinicalMedicine

    2023  Volume 59, Page(s) 101920

    Abstract: Background: Functionally impaired variants of : Methods: This study was a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial. Patients with MSA were randomly assigned (1:1) to either ubiquinol (1500 mg/day) or placebo. The ... ...

    Abstract Background: Functionally impaired variants of
    Methods: This study was a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial. Patients with MSA were randomly assigned (1:1) to either ubiquinol (1500 mg/day) or placebo. The primary efficacy outcome was the change in the unified multiple system atrophy rating scale (UMSARS) part 2 at 48 weeks. Efficacy was assessed in all patients who completed at least one efficacy assessment (full analysis set). Safety analyses included patients who completed at least one dose of investigational drug. This trial is registered with UMIN-CTR (UMIN000031771), where the drug name of MSA-01 was used to designate ubiquinol.
    Findings: Between June 26, 2018, and May 27, 2019, 139 patients were enrolled and randomly assigned to the ubiquinol group (n = 69) or the placebo group (n = 70). A total of 131 patients were included in the full analysis set (63 in the ubiquinol group; 68 in the placebo group). This study met the primary efficacy outcome (least square mean difference in UMSARS part 2 score (-1.7 [95% CI, -3.2 to -0.2]; P = 0.023)). The ubiquinol group also showed better secondary efficacy outcomes (Barthel index, Scale for the Assessment and Rating of Ataxia, and time required to walk 10 m). Rates of adverse events potentially related to the investigational drug were comparable between ubiquinol (n = 15 [23.8%]) and placebo (n = 21 [30.9%]).
    Interpretation: High-dose ubiquinol was well-tolerated and led to a significantly smaller decline of UMSARS part 2 score compared with placebo.
    Funding: Japan Agency for Medical Research and Development.
    Language English
    Publishing date 2023-04-14
    Publishing country England
    Document type Journal Article
    ISSN 2589-5370
    ISSN (online) 2589-5370
    DOI 10.1016/j.eclinm.2023.101920
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Multiple system atrophy variant with severe hippocampal pathology.

    Ando, Takashi / Riku, Yuichi / Akagi, Akio / Miyahara, Hiroaki / Hirano, Mitsuaki / Ikeda, Toshimasa / Yabata, Hiroyuki / Koizumi, Ryuichi / Oba, Chisato / Morozumi, Saori / Yasui, Keizo / Goto, Atsuko / Katayama, Taiji / Sakakibara, Satoko / Aiba, Ikuko / Sakai, Motoko / Konagaya, Masaaki / Mori, Keiko / Ito, Yasuhiro /
    Yuasa, Hiroyuki / Nomura, Masayo / Porto, Kristine Joyce L / Mitsui, Jun / Tsuji, Shoji / Mimuro, Maya / Hashizume, Yoshio / Katsuno, Masahisa / Iwasaki, Yasushi / Yoshida, Mari

    Brain pathology (Zurich, Switzerland)

    2021  Volume 32, Issue 1, Page(s) e13002

    Abstract: The striatonigral and olivopontocerebellar systems are known to be vulnerable in multiple system atrophy (MSA), showing neuronal loss, astrogliosis, and alpha-synuclein-immunoreactive inclusions. MSA patients who displayed abundant neuronal cytoplasmic ... ...

    Abstract The striatonigral and olivopontocerebellar systems are known to be vulnerable in multiple system atrophy (MSA), showing neuronal loss, astrogliosis, and alpha-synuclein-immunoreactive inclusions. MSA patients who displayed abundant neuronal cytoplasmic inclusions (NCIs) in the regions other than the striatonigral or olivopontocerebellar system have occasionally been diagnosed with variants of MSA. In this study, we report clinical and pathologic findings of MSA patients characterized by prominent pathologic involvement of the hippocampus. We assessed 146 consecutively autopsied MSA patients. Semi-quantitative analysis of anti-alpha-synuclein immunohistochemistry revealed that 12 of 146 patients (8.2%) had severe NCIs in two or more of the following areas: the hippocampal granule cells, cornu ammonis areas, parahippocampal gyrus, and amygdala. In contrast, the remaining 134 patients did not show severe NCIs in any of these regions. Patients with severe hippocampal involvement showed a higher representation of women (nine women/three men; Fisher's exact test, p = 0.0324), longer disease duration (13.1 ± 5.9 years; Mann-Whitney U-test, p = 0.000157), higher prevalence of cognitive impairment (four patients; Fisher's exact test, p = 0.0222), and lower brain weight (1070.3 ± 168.6 g; Mann-Whitney U-test, p = 0.00911) than other patients. The hippocampal granule cells and cornu ammonis area 1/subiculum almost always showed severe NCIs. The NCIs appeared to be ring-shaped or neurofibrillary tangle-like, fibrous configurations. Three of 12 patients also had dense, round-shaped NCIs that were morphologically similar to pick bodies. The patients with Pick body-like inclusions showed more severe atrophy of the medial temporal lobes and broader spreading of NCIs than those without. Immunohistochemistry for hyperphosphorylated tau and phosphorylated TDP-43 revealed minimal aggregations in the hippocampus of the hippocampal MSA patients. Our observations suggest a pathological variant of MSA that is characterized by severe involvement of hippocampal neurons. This phenotype may reinforce the importance of neuronal alpha-synucleinopathy in the pathogenesis of MSA.
    MeSH term(s) Brain/pathology ; Female ; Hippocampus/pathology ; Humans ; Inclusion Bodies/pathology ; Multiple System Atrophy/pathology ; Neurons/pathology ; alpha-Synuclein/metabolism
    Chemical Substances alpha-Synuclein
    Language English
    Publishing date 2021-07-13
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1051484-3
    ISSN 1750-3639 ; 1015-6305
    ISSN (online) 1750-3639
    ISSN 1015-6305
    DOI 10.1111/bpa.13002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3585: Show issues Location:
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