Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia

Giorgio Tasca, Zagaa Odgerel, Mauro Monforte, Stefania Aurino, Nigel F. Clarke, Leigh B. Waddell, Bjarne Udd, Enzo Ricci, Lev G. Goldfarb

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: Mutations in the gene that encodes filamin C, FLNC, represent a rare cause of a distinctive type of myofibrillar myopathy (MFM). Methods: We investigated an Italian patient by means of muscle biopsy, muscle and brain imaging and molecular analysis of MFM genes. Results: The patient harbored a novel 7256C>T, p.Thr2419Met mutation in exon 44 of FLNC. Clinical, pathological and muscle MRI findings were similar to the previously described filaminopathy cases. This patient had, in addition, cerebellar ataxia with atrophy of cerebellum and vermis evident on brain MRI scan. Extensive screening failed to establish a cause of cerebellar atrophy. Conclusions: We report an Italian filaminopathy patient, with a novel mutation in a highly conserved region. This case raises the possibility that the disease spectrum caused by FLNC may include cerebellar dysfunction.

Original languageEnglish
Pages (from-to)275-282
Number of pages8
JournalMuscle and Nerve
Volume46
Issue number2
DOIs
Publication statusPublished - Aug 2012

Keywords

  • Cerebellar ataxia
  • Filaminopathy
  • FLNC
  • Muscle MRI
  • Myofibrillar myopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

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