The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation

Gianfranco Cafforio, Rosanna Calabrese, Nicola Morelli, Michelangelo Mancuso, Selina Piazza, Andrea Martinuzzi, Maria Teresa Bassi, Francesco Crippa, Gabriele Siciliano

Research output: Contribution to journalArticle

Abstract

Silver syndrome (SPG17) is a rare form of hereditary spastic paraparesis. Its relationship to distal hereditary motor neuropathy (dHMN) type V is underlined by the recent discovery of causative mutation in BSCL2 gene coding for a protein termed seipin, an integral membrane protein of endoplasmic reticulum, with unknown function. Here we report the third Italian family with dHMN and SPG17 in which two affected members harbor the heterozygous N88S mutation in the BSCL2 gene. The proband developed a severe paraparetic spastic gait, while, in the other Italian families reported so far, no signs of upper motor neuron involvement were observed. This family confirms the clinical heterogeneity associated with this specific mutation. Moreover, this is the first report in which neuroimaging seems to confirm the pyramidal alterations in dHMN associated to SPG17.

Original languageEnglish
Pages (from-to)189-191
Number of pages3
JournalNeurological Sciences
Volume29
Issue number3
DOIs
Publication statusPublished - Jun 2008

Keywords

  • BSCL2
  • Clinical variability
  • Hereditary distal motor neuropathy
  • Silver syndrome
  • Upper motor neuron involvement

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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