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  1. Article: A Memorial Tribute to Kyoung-Min Lee: An Outstanding Behavioral Neurologist and Cognitive Neuroscientist.

    Woo, Sung-Ho / Jeon, Hyeon-Ae / Kang, Soyoung / Joo, Hyeyeon / Seo, Min-Hee / Lee, Eunbeen / Heo, Jae-Hyeok / Cha, Jeong-In / Ryu, Jeh-Kwang / Kim, Min-Jeong

    Journal of clinical neurology (Seoul, Korea)

    2022  Volume 18, Issue 6, Page(s) 603–609

    Language English
    Publishing date 2022-11-11
    Publishing country Korea (South)
    Document type Editorial
    ZDB-ID 2500489-X
    ISSN 2005-5013 ; 1738-6586
    ISSN (online) 2005-5013
    ISSN 1738-6586
    DOI 10.3988/jcn.2022.18.6.603
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Concurrence of Multifocal Motor Neuropathy and Hashimoto's Thyroiditis.

    Ahn, Suk-Won / Kim, Su-Hyun / Park, Byung-Su / Cha, Jeong-In / Kim, Sung-Min / Sung, Jung-Joon / Lee, Kwang-Woo

    Journal of clinical neurology (Seoul, Korea)

    2011  Volume 7, Issue 3, Page(s) 168–172

    Abstract: Background: Multifocal motor neuropathy (MMN) is an immune-mediated disorder that is characterized by slowly progressive and asymmetrical weakness, but its pathophysiological mechanism is uncertain. The hypothesis that MMN is an immunological disease ... ...

    Abstract Background: Multifocal motor neuropathy (MMN) is an immune-mediated disorder that is characterized by slowly progressive and asymmetrical weakness, but its pathophysiological mechanism is uncertain. The hypothesis that MMN is an immunological disease has been supported by the proven therapeutic effects of intravenous immunoglobulin and the detection of antiganglioside antibodies in MMN patients. The coexistence of MMN with other immune diseases has been rarely reported.
    Case report: A 37-year-old woman visited our hospital complaining of weakness in both hands. The clinical manifestations coincided well with MMN: predominantly distal upper-limb weakness, asymmetric involvement, a progressive course, absence of sensory symptoms, absence of pyramidal signs, and sparing of the cranial muscles. The electrophysiological findings also supported a diagnosis of MMN, with motor nerve conduction block in the median, ulnar, and radial nerves, without sensory nerve involvement. The patient was simultaneously diagnosed as having Hashimoto's thyroiditis, which is a well-known immune-mediated disease.
    Conclusions: The concurrence of MMN and Hashimoto's thyroiditis in our patient is significant for understanding the immunological characteristics of the two diseases.
    Language English
    Publishing date 2011-09-29
    Publishing country Korea (South)
    Document type Journal Article
    ZDB-ID 2500489-X
    ISSN 2005-5013 ; 2005-5013
    ISSN (online) 2005-5013
    ISSN 2005-5013
    DOI 10.3988/jcn.2011.7.3.168
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia.

    Lim, Jae-Sung / Sung, Jung-Joon / Hong, Yoon-Ho / Park, Seoung-Sup / Park, Kyung-Seok / Cha, Jeong-In / Lee, Jee-Young / Lee, Kwang-Woo

    Journal of the neurological sciences

    2009  Volume 290, Issue 1-2, Page(s) 186–189

    Abstract: Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of both lower extremities. Herein, we report a novel splicing mutation (c.870+3A>G) in SPG4 in a ... ...

    Abstract Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of both lower extremities. Herein, we report a novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in intron 5, and results in a deletion of the 188bp-sized exon 5. It is likely that the exon 5 deletion leads to spastin dysfunction and cause the typical symptoms and signs of patients.
    MeSH term(s) Adenosine Triphosphatases/genetics ; Age of Onset ; Alternative Splicing/genetics ; Asian Continental Ancestry Group ; DNA Mutational Analysis ; Disease Progression ; Exons/genetics ; Female ; Gene Deletion ; Genetic Predisposition to Disease/genetics ; Humans ; Inheritance Patterns/genetics ; Introns/genetics ; Male ; Middle Aged ; Mutation/genetics ; Pedigree ; Republic of Korea ; Spastic Paraplegia, Hereditary/ethnology ; Spastic Paraplegia, Hereditary/genetics ; Spastic Paraplegia, Hereditary/metabolism ; Spastin
    Chemical Substances Adenosine Triphosphatases (EC 3.6.1.-) ; Spastin (EC 3.6.4.3) ; SPAST protein, human (EC 5.6.1.1)
    Language English
    Publishing date 2009-11-25
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    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.2009.10.016
    Database MEDical Literature Analysis and Retrieval System OnLINE

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