Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

@article{Schuster2010GenomicDM,
  title={Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms},
  author={Jens Schuster and Jimmy Sundblom and Ann-Charlotte Thuresson and Sharon Hassin-Baer and Thomas Klopstock and Martin Dichgans and Oren S. Cohen and Raili Raininko and Atle Melberg and Niklas Dahl},
  journal={neurogenetics},
  year={2010},
  volume={12},
  pages={65-72}
}
Adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms features micturition urgency, constipation, erectile dysfunction, and orthostatic hypotension, usually followed by pyramidal signs and ataxia. Peripheral nerve conduction is normal. The disease is often mistaken for multiple sclerosis in the initial phase. There is a characteristic pattern of white matter changes in the brain and spinal cord on magnetic resonance imaging (MRI), mild atrophy of the brain, and a more… CONTINUE READING

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Showing 1-10 of 22 references

a clinical and molecular case study of altered nuclear function and disease

  • QS Padiath, Fu YH Autosomal dominant leukodystrophy caused by lam duplications
  • Meth Cell Biol 98:337–357 Neurogenetics
  • 2011
1 Excerpt

A family with autosomal dominant leukodystrophy linked to 5 q 23 . 2 – q 23 . 3 without lamin B 1 mutations

  • A Brussino, G Vaula, +12 authors A Brusco
  • Eur J Neurol
  • 2010

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