Advertisement

Clinical features and genetic analysis of SGCE myoclonus-dystonia: A case report

      Highlights

      • SGCE is the most predominant causative gene for myoclonus-dystonia.
      • The new SGCE nonsense mutation provides clinical information for the diagnosis and treatment of myoclonus-dystonia.
      • The features of the Archimedes spiral diagram help to identify different movement disorders.

      Abstract

      Myoclonus-dystonia caused by mutations in the SGCE gene is clinically characterized by early onset, myoclonus, and dystonia. Here we describe a family in which several members exhibit varying degrees of myoclonus and dystonia, caused by a novel heterozygous mutation in the SGCE gene.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Parkinsonism & Related Disorders
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Roze E.
        • Lang A.E.
        • Vidailhet M.
        Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment.
        Curr. Opin. Neurol. 2018; 31: 484-490
        • Peall K.J.
        • Dijk J.M.
        • Saunders-Pullman R.
        • Dreissen Y.E.
        • van Loon I.
        • Cath D.
        • Kurian M.A.
        • Owen M.J.
        • Foncke E.M.
        • Morris H.R.
        • Gasser T.
        • Bressman S.
        • Asmus F.
        • Tijssen M.A.
        Psychiatric disorders, myoclonus dystonia and SGCE: an international study.
        Ann Clin Transl Neurol. 2016; 3: 4-11
        • Elsayed L.E.
        • Drouet V.
        • Usenko T.
        • Mohammed I.N.
        • Hamed A.A.
        • Elseed M.A.
        • Salih M.A.
        • Koko M.E.
        • Mohamed A.Y.
        • Siddig R.A.
        • Elbashir M.I.
        • Ibrahim M.E.
        • Durr A.
        • Stevanin G.
        • Lesage S.
        • Ahmed A.E.
        • Brice A.
        A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal-recessive juvenile-onset Parkinson's disease.
        Ann. Neurol. 2016; 79: 335-337
        • Olgiati S.
        • Quadri M.
        • Fang M.
        • Rood J.P.
        • Saute J.A.
        • Chien H.F.
        • Bouwkamp C.G.
        • Graafland J.
        • Minneboo M.
        • Breedveld G.J.
        • Zhang J.
        • International Parkinsonism Genetics N.
        • Verheijen F.W.
        • Boon A.J.
        • Kievit A.J.
        • Jardim L.B.
        • Mandemakers W.
        • Barbosa E.R.
        • Rieder C.R.
        • Leenders K.L.
        • Wang J.
        • Bonifati V.
        DNAJC6 mutations associated with early-onset Parkinson's disease.
        Ann. Neurol. 2016; 79: 244-256
        • Alty J.
        • Cosgrove J.
        • Thorpe D.
        • Kempster P.
        How to use pen and paper tasks to aid tremor diagnosis in the clinic.
        Practical Neurol. 2017; 17: 456-463