TY - JOUR
T1 - The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation
AU - Cafforio, Gianfranco
AU - Calabrese, Rosanna
AU - Morelli, Nicola
AU - Mancuso, Michelangelo
AU - Piazza, Selina
AU - Martinuzzi, Andrea
AU - Bassi, Maria Teresa
AU - Crippa, Francesco
AU - Siciliano, Gabriele
PY - 2008/6
Y1 - 2008/6
N2 - 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.
AB - 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.
KW - BSCL2
KW - Clinical variability
KW - Hereditary distal motor neuropathy
KW - Silver syndrome
KW - Upper motor neuron involvement
UR - http://www.scopus.com/inward/record.url?scp=48949116326&partnerID=8YFLogxK
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U2 - 10.1007/s10072-008-0937-y
DO - 10.1007/s10072-008-0937-y
M3 - Article
C2 - 18612770
AN - SCOPUS:48949116326
VL - 29
SP - 189
EP - 191
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
IS - 3
ER -