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Article

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

Brain : a journal of neurology - 1 Sept 2004

Irobi Joy, Van den Bergh Peter, Merlini Luciano, Verellen Christine, Van Maldergem Lionel, Dierick Ines, Verpoorten Nathalie, Jordanova Albena, Windpassinger Christian, De Vriendt Els, Van Gerwen Veerle, Auer-Grumbach Michaela, Wagner Klaus, Timmerman Vincent, De Jonghe Peter

Abstract excerpt

Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyotrophy and weakness of small hand muscles and spasticity in the lower limbs. The locus for Silver syndrome (SPG17) was assigned to a 13 cM region on chromosome 11q12-q14 in a single large pedigree. We recently found heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2, seipin) gene...

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Source

Identifiers

PMID: 15242882
DOI: 10.1093/brain/awh232

Genes

BSCL2

Provenance

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 phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.PMID 15242882Read ↗

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Clinical features of inherited neuropathy with BSCL2 mutations in Japan.Semantic proximity Read ↗

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

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

Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2.Semantic proximity Read ↗

Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.Semantic proximity Read ↗

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

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