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Title of Journal: Neurol Sci

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Abbravation: Neurological Sciences

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Springer Milan

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DOI

10.1016/0022-5193(83)90355-7

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1590-3478

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The first Italian family with evidence of pyramida

Authors: Gianfranco Cafforio Rosanna Calabrese Nicola Morelli Michelangelo Mancuso Selina Piazza Andrea Martinuzzi Maria Teresa Bassi Francesco Crippa Gabriele Siciliano
Publish Date: 2008/07/09
Volume: 29, Issue: 3, Pages: 189-
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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

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