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Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss
  1. Frank Spaans (f.spaans{at}
  1. Maastricht University Medical Centre, Netherlands
    1. Carin G Faber (c.faber{at}
    1. Maastricht University Medical Centre, Netherlands
      1. Hubert J M Smeets (bert.smeets{at}
      1. Dept. Genetics and Cell Biology, Maastricht University, Netherlands
        1. Paul A M Hofman (p.hofman{at}
        1. Dept. Radiology, Maastricht University Medical Centre, Netherlands
          1. Claudia Braida (c.braida{at}
          1. Biomedical and Life Sciences, University of Glasgow, United Kingdom
            1. Darren G Monckton (d.monckton{at}
            1. Biomedical and Life Sciences, University of Glasgow, United Kingdom
              1. Christine E M de Die (christine.dedie{at}
              1. Dept. Clinical Genetics, Maastricht University Medical Centre, Netherlands


                Objective: To report new disease components in a unique myotonic dystrophy type 1 (DM1) family previously described by us, in which all affected members also had a sensorimotor neuropathy that co-segregated with markers flanking the DM1 locus.

                Methods: Clinical observations, electrophysiology, audiometry, DNA studies.

                Results: During a follow-up period of over 25 years, we observed: i) The co-segregation of a striking new encephalopathic phenotype. In middle age, five patients were admitted on multiple occasions with attacks of impaired consciousness, psychomotor agitation, fever and, in about half of the cases, focal neurologic signs, including unilateral weakness, sensory deficits and dysphasia. Reported onset phenomena consisted of confusion, headache, focal neurologic symptoms and nausea; ii) Many patients show an early and severe sensorineural hearing loss; iii) Although they have mothers with the adult onset type, the four affected subjects from the youngest generation do not show any signs or symptoms of childhood or congenital of myotonic dystrophy. iv) The neuropathy meets the criteria of an intermediate type Charcot-Marie-Tooth, and is more severe in the males; and v) Patients presented with an expanded fragment at the DM1 CTG repeat, but this allele was refractory to PCR amplification and triplet repeat primed PCR at the 3’ end of the array, indicating the existence of an additional lesion at the 3’ end.

                Conclusions: The phenotype in this unique family extends beyond myotonic dystrophy and CMT to include encephalopathic attacks and early hearing loss, and is associated with an atypical mutation at the DM1 locus.

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