A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease

Luca Padua, Marco Luigetti, Costanza Pazzaglia, Paola Ciotti, Alessandro Geroldi, Simona Capponi, Ilaria Pezzini, Rossella Gulli, Roberto Massa, Paola Mandich, Emilia Bellone

Risultato della ricerca: Contributo in rivistaArticolo in rivista

9 Citazioni (Scopus)

Abstract

Charcot-Marie-Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks.
Lingua originaleEnglish
pagine (da-a)183-186
Numero di pagine4
RivistaJournal of the Neurological Sciences
Volume343
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • CMT1 Italian patients
  • CMT1C
  • Conduction blocks
  • LITAF/SIMPLE
  • SIMPLE mutation
  • Sural nerve biopsy

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