Myopathy is a prominent feature in Marinesco-Sjögren syndrome: a muscle computed tomography study

    Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

    Kuvaus

    Background Marinesco-Sjorgren syndrome (MSS) is an autosomal recessive multiorgan disorder showing clinical and genetic heterogeneity. The key features of MSS include cerebellar ataxia, early bilateral cataracts, delayed motor development, and varying degrees of mental retardation. Patients with a subtype of MSS with myoglobinuria and neuropathy have been linked to chromosome 18qter, and recently a locus for classical MSS has been localized on chromosome 5q31. Objective To determine the importance of myopathy in this disorder apart from the CNS based disability and to establish the pattern of muscle involvement and degree of its severity. Methods Muscle computed tomography (CT) investigations were carried out in nine Finnish MSS patients homozygous for markers around the MSS locus on chromosome 5q31. Results Patients with severe clinical disability showed severe and generalized muscle degeneration. Muscle CT findings in patients with relatively severe clinical picture were characterized by severe involvement of the posterior thoracic and pelvic muscles, and almost all thigh muscles. In the legs the peronei and posterior compartment muscles were severely degenerated. The group of patients with moderate severity of disease showed the same pattern of involved muscle, albeit with lower degree of muscle degeneration. Conclusions Patients with MSS linked to chromosome 5q31 have a severe progressive myopathy, the extent of which may remain largely unrecognized because of the CNS involvement.
    Alkuperäiskielienglanti
    LehtiJournal of Neurology
    Vuosikerta253
    Numero3
    Sivut301-306
    Sivumäärä6
    ISSN0340-5354
    DOI - pysyväislinkit
    TilaJulkaistu - 2006
    OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

    Tieteenalat

    • 311 Peruslääketieteet
    • 118 Biotieteet
    • 515 Psykologia

    Lainaa tätä

    @article{c5709428d3324e1f880155d93d954df4,
    title = "Myopathy is a prominent feature in Marinesco-Sj{\"o}gren syndrome: a muscle computed tomography study",
    abstract = "Background Marinesco-Sjorgren syndrome (MSS) is an autosomal recessive multiorgan disorder showing clinical and genetic heterogeneity. The key features of MSS include cerebellar ataxia, early bilateral cataracts, delayed motor development, and varying degrees of mental retardation. Patients with a subtype of MSS with myoglobinuria and neuropathy have been linked to chromosome 18qter, and recently a locus for classical MSS has been localized on chromosome 5q31. Objective To determine the importance of myopathy in this disorder apart from the CNS based disability and to establish the pattern of muscle involvement and degree of its severity. Methods Muscle computed tomography (CT) investigations were carried out in nine Finnish MSS patients homozygous for markers around the MSS locus on chromosome 5q31. Results Patients with severe clinical disability showed severe and generalized muscle degeneration. Muscle CT findings in patients with relatively severe clinical picture were characterized by severe involvement of the posterior thoracic and pelvic muscles, and almost all thigh muscles. In the legs the peronei and posterior compartment muscles were severely degenerated. The group of patients with moderate severity of disease showed the same pattern of involved muscle, albeit with lower degree of muscle degeneration. Conclusions Patients with MSS linked to chromosome 5q31 have a severe progressive myopathy, the extent of which may remain largely unrecognized because of the CNS involvement.",
    keywords = "311 Basic medicine, 118 Biological sciences, 515 Psychology",
    author = "Ibrahim Mahjneh and Anna-Kaisa Anttonen and Mirja Somer and Anders Paetau and Anna-Elina Lehesjoki and Hannu Somer and Bjarne Udd",
    year = "2006",
    doi = "10.1007/s00415-005-0983-9",
    language = "English",
    volume = "253",
    pages = "301--306",
    journal = "Journal of Neurology",
    issn = "0340-5354",
    publisher = "Springer Heidelberg",
    number = "3",

    }

    Myopathy is a prominent feature in Marinesco-Sjögren syndrome : a muscle computed tomography study. / Mahjneh, Ibrahim; Anttonen, Anna-Kaisa; Somer, Mirja; Paetau, Anders; Lehesjoki, Anna-Elina; Somer, Hannu; Udd, Bjarne.

    julkaisussa: Journal of Neurology, Vuosikerta 253, Nro 3, 2006, s. 301-306.

    Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

    TY - JOUR

    T1 - Myopathy is a prominent feature in Marinesco-Sjögren syndrome

    T2 - a muscle computed tomography study

    AU - Mahjneh, Ibrahim

    AU - Anttonen, Anna-Kaisa

    AU - Somer, Mirja

    AU - Paetau, Anders

    AU - Lehesjoki, Anna-Elina

    AU - Somer, Hannu

    AU - Udd, Bjarne

    PY - 2006

    Y1 - 2006

    N2 - Background Marinesco-Sjorgren syndrome (MSS) is an autosomal recessive multiorgan disorder showing clinical and genetic heterogeneity. The key features of MSS include cerebellar ataxia, early bilateral cataracts, delayed motor development, and varying degrees of mental retardation. Patients with a subtype of MSS with myoglobinuria and neuropathy have been linked to chromosome 18qter, and recently a locus for classical MSS has been localized on chromosome 5q31. Objective To determine the importance of myopathy in this disorder apart from the CNS based disability and to establish the pattern of muscle involvement and degree of its severity. Methods Muscle computed tomography (CT) investigations were carried out in nine Finnish MSS patients homozygous for markers around the MSS locus on chromosome 5q31. Results Patients with severe clinical disability showed severe and generalized muscle degeneration. Muscle CT findings in patients with relatively severe clinical picture were characterized by severe involvement of the posterior thoracic and pelvic muscles, and almost all thigh muscles. In the legs the peronei and posterior compartment muscles were severely degenerated. The group of patients with moderate severity of disease showed the same pattern of involved muscle, albeit with lower degree of muscle degeneration. Conclusions Patients with MSS linked to chromosome 5q31 have a severe progressive myopathy, the extent of which may remain largely unrecognized because of the CNS involvement.

    AB - Background Marinesco-Sjorgren syndrome (MSS) is an autosomal recessive multiorgan disorder showing clinical and genetic heterogeneity. The key features of MSS include cerebellar ataxia, early bilateral cataracts, delayed motor development, and varying degrees of mental retardation. Patients with a subtype of MSS with myoglobinuria and neuropathy have been linked to chromosome 18qter, and recently a locus for classical MSS has been localized on chromosome 5q31. Objective To determine the importance of myopathy in this disorder apart from the CNS based disability and to establish the pattern of muscle involvement and degree of its severity. Methods Muscle computed tomography (CT) investigations were carried out in nine Finnish MSS patients homozygous for markers around the MSS locus on chromosome 5q31. Results Patients with severe clinical disability showed severe and generalized muscle degeneration. Muscle CT findings in patients with relatively severe clinical picture were characterized by severe involvement of the posterior thoracic and pelvic muscles, and almost all thigh muscles. In the legs the peronei and posterior compartment muscles were severely degenerated. The group of patients with moderate severity of disease showed the same pattern of involved muscle, albeit with lower degree of muscle degeneration. Conclusions Patients with MSS linked to chromosome 5q31 have a severe progressive myopathy, the extent of which may remain largely unrecognized because of the CNS involvement.

    KW - 311 Basic medicine

    KW - 118 Biological sciences

    KW - 515 Psychology

    U2 - 10.1007/s00415-005-0983-9

    DO - 10.1007/s00415-005-0983-9

    M3 - Article

    VL - 253

    SP - 301

    EP - 306

    JO - Journal of Neurology

    JF - Journal of Neurology

    SN - 0340-5354

    IS - 3

    ER -