Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.

Mario Sabatelli, Marco Luigetti, Francesca Madia, Amelia Conte, Alessandra Del Grande, Pietro Attilio Tonali, G. M. Fabrizi, M. Ferrarini

Risultato della ricerca: Contributo in rivistaArticolo in rivista

9 Citazioni (Scopus)

Abstract

Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. We studied an Italian family with a CMT2 phenotype with pyramidal signs that had subclinical sensory involvement on sural nerve biopsy. Direct sequencing analysis of the BSCL2 gene in the three affected siblings revealed an S90L mutation. This report confirms the variability of clinical phenotypes associated with a BSCL2 Ser90Leu mutation and describes the first Italian family with this mutation.
Lingua originaleEnglish
pagine (da-a)448-451
Numero di pagine4
RivistaMUSCLE & NERVE
Volume2010
Stato di pubblicazionePubblicato - 2010

Keywords

  • BSCL2
  • CMT
  • dHMN

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