title: BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
abstract: Mutations in the BSCL2 gene have recently been identified in families with (SPG17-linked) Silver syndrome-type hereditary spastic paraparesis as well as in families with distal hereditary motor neuropathy (HMN). We describe the first two Dutch families with BSCL2 mutations and corroborate the phenotypic variability of this gene mutation, as features compatible with Silver syndrome, variant Silver syndrome (with predominant foot rather than hand muscle involvement), distal HMN type II, or distal HMN type V were all encountered.
authors.affiliation: Department of Neurology, Radboud University Nijmegen Medical Centre, 326, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: Bart P C
authors.initials: BP
authors.lastname: van de Warrenburg
authors.forename: Hans
authors.initials: H
authors.lastname: Scheffer
authors.forename: Jeroen J J
authors.initials: JJ
authors.lastname: van Eijk
authors.forename: Martina H A
authors.initials: MH
authors.lastname: Versteeg
authors.forename: Hannie
authors.initials: H
authors.lastname: Kremer
authors.forename: Machiel J
authors.initials: MJ
authors.lastname: Zwarts
authors.forename: H Jurgen
authors.initials: HJ
authors.lastname: Schelhaas
authors.forename: Baziel G M
authors.initials: BG
authors.lastname: van Engelen
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D005528:Foot; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D006225:Hand; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009154:Mutation; D009426:Netherlands; D010375:Pedigree; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits