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Article

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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2008

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

Abstract excerpt

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...

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Identifiers

PMID: 18612770
DOI: 10.1007/s10072-008-0937-y

Genes

BSCL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation.PMID 18612770Read ↗

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ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.Semantic proximity Read ↗

Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.Semantic proximity Read ↗

N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.Semantic proximity Read ↗

[Silver syndrome--case report].Semantic proximity Read ↗

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.Semantic proximity Read ↗

Clinical and electrophysiological features in a French family presenting with seipinopathy.Semantic proximity Read ↗

The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation.Semantic proximity Read ↗

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