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Brain Advance Access published online on July 8, 2004
Brain, doi:10.1093/brain/awh232
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Received March 9, 2004
Accepted May 9, 2004

Article

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

Joy Irobi 1, Peter Van den Bergh 2, Luciano Merlini 3, Christine Verellen 4, Lionel Van Maldergem 5, Ines Dierick 1, Nathalie Verpoorten 1, Albena Jordanova 1, Christian Windpassinger 6, Els De Vriendt 1, Veerle Van Gerwen 1, Michaela Auer-Grumbach 6, Klaus Wagner 6, Vincent Timmerman 1, Peter De Jonghe 7*

1 Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
2 Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
3 Neuromuscular Laboratory, Istituto Ortopedico Rizzoli, Bologna, Italy
4 Unité de Génétique Médicale, Brussels, Belgium
5 Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
6 Institute of Medical Biology and Human Genetics, Medical University Graz, Austria
7 Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium; Division of Neurology, University Hospital Antwerp, Antwerp, Belgium

* To whom correspondence should be addressed. E-mail: peter.dejonghe{at}ua.ac.be.


  Abstract

Summary 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 causing SPG17 and distal hereditary motor neuropathy type V (distal HMN V). Here we report the clinical features of two families with heterozygous BSCL2 mutations. Interestingly, both families show a clinical phenotype different from classical Silver syndrome, and in some patients the phenotype is also different from distal HMN V. Patients in the first family had marked spasticity in the lower limbs and very striking distal amyotrophy that always started in the legs. Patients in the second family had distal amyotrophy sometimes starting and predominating in the legs, but no pyramidal tract signs. These observations broaden the clinical phenotype of disorders associated with BSCL2 mutations, having consequences for molecular genetic testing.

Keywords: BSCL2; clinical heterogeneity; distal HMN V; mutation analysis; seipin gene; Silver syndrome; SPG17.
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