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.

Ciotti, P., Luigetti, M., Geroldi, A., Capponi, S., Pezzini, I., Gulli, R., et al. (2014). A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. JOURNAL OF THE NEUROLOGICAL SCIENCES, 343(1-2), 183-186 [10.1016/j.jns.2014.05.029].

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

MASSA, ROBERTO;
2014-08-01

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.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/26 - Neurologia
English
Con Impact Factor ISI
Ciotti, P., Luigetti, M., Geroldi, A., Capponi, S., Pezzini, I., Gulli, R., et al. (2014). A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. JOURNAL OF THE NEUROLOGICAL SCIENCES, 343(1-2), 183-186 [10.1016/j.jns.2014.05.029].
Ciotti, P; Luigetti, M; Geroldi, A; Capponi, S; Pezzini, I; Gulli, R; Pazzaglia, C; Padua, L; Massa, R; Mandich, P; Bellone, E
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/100753
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