CMT 2: SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal si

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Muscle Nerve. 2010 Sep;42(3):448-51

SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs.

Luigetti M, Fabrizi GM, Madia F, Ferrarini M, Conte A, Delgrande A, Tonali PA,

Sabatelli M.

Institute of Neurology, Catholic University of Sacred Heart, Largo F. Vito 1,

00168, Rome, Italy.

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.