title: Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
abstract: Heterozygous BICD2 gene mutations cause a form of autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED).
  
  
  
  We analyzed the BICD2 gene in a selected group of 25 index patients with neurogenic muscle atrophy.
  
  
  
  We identified 2 new BICD2 missense mutations, c.2515G>A, p.Gly839Arg, in a family with autosomal dominant inheritance, and c.2202G>T, p.Lys734Asn, as a de novo mutation in an isolated patient with similar phenotype. The patients had congenital foot contractures, muscle atrophy of the legs, and slowly progressive weakness of the shoulder girdle. There was no apparent sensory or brain dysfunction. One patient died of unrelated reasons at age 52 years. Autopsy revealed no upper motor neuron and only moderate lower motor neuron loss, but there was distal corticospinal tract degeneration and marked neurogenic muscular atrophy.
  
  
  
  These findings give further insight into the clinical and pathoanatomical consequences of BICD2 mutations. Muscle Nerve 54: 496-500, 2016.
authors.affiliation: Institute of Human Genetics, Uniklinik RWTH Aachen, Aachen, Germany.|Division of Human Genetics, Medical University Innsbruck, Peter-Mayr-Strasse 1, 6020, Innsbruck, Austria.
authors.forename: Sabine
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.affiliation: Institute of Human Genetics, Uniklinik RWTH Aachen, Aachen, Germany.
authors.forename: Florian
authors.initials: F
authors.lastname: Deden
authors.affiliation: Institute of Human Genetics, Uniklinik RWTH Aachen, Aachen, Germany.
authors.forename: Katja
authors.initials: K
authors.lastname: Eggermann
authors.affiliation: Institute of Human Genetics, Uniklinik RWTH Aachen, Aachen, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
authors.affiliation: Institute of Human Genetics, University of Essen, Essen, Germany.
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
authors.affiliation: Institute of Neuropathology, Uniklinik RWTH Aachen, Aachen, Germany.
authors.forename: Bernd
authors.initials: B
authors.lastname: Sellhaus
authors.affiliation: Institute of Neuropathology, Uniklinik RWTH Aachen, Aachen, Germany.
authors.forename: Alfred
authors.initials: A
authors.lastname: Yamoah
authors.affiliation: Institute of Neuropathology, Uniklinik RWTH Aachen, Aachen, Germany.
authors.forename: Anand
authors.initials: A
authors.lastname: Goswami
authors.affiliation: Institute of Neuropathology, Uniklinik RWTH Aachen, Aachen, Germany.|Department of Neurology, Uniklinik RWTH Aachen, Aachen, Germany.
authors.forename: Kristl G
authors.initials: KG
authors.lastname: Claeys
authors.affiliation: Institute of Neuropathology, Uniklinik RWTH Aachen, Aachen, Germany.
authors.forename: Joachim
authors.initials: J
authors.lastname: Weis
authors.affiliation: Institute of Human Genetics, Uniklinik RWTH Aachen, Aachen, Germany.
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D035002:Lower Extremity / Q000503:physiopathology*; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: C561542:BICD2 protein, human; D008869:Microtubule-Associated Proteins
keywords: BICD2 gene; arthrogryposis multiplex congenital; axonopathy; dominant congenital spinal muscular atrophy; lower extremity predominance; spinal muscular atrophy