Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations

Muscle and Nerve

Volumn 54, Issue 3, 2016, Pages 496-500

  Rudnik Schöneborn, Sabine ^a,b   Deden, Florian ^a   Eggermann, Katja ^a   Eggermann, Thomas ^a   Wieczorek, Dagmar ^c   Sellhaus, Bernd ^a   Yamoah, Alfred ^a   Goswami, Anand ^a   Claeys, Kristl G ^a   Weis, Joachim ^a   Zerres, Klaus ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

arthrogryposis multiplex congenital; axonopathy; BICD2 gene; dominant congenital spinal muscular atrophy; lower extremity predominance; spinal muscular atrophy

Indexed keywords

CHOLESTEROL; CREATINE KINASE; PROTEIN; PROTEIN BICD2; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ADULT; AGED; ALCOHOL CONSUMPTION; ANTERIOR HORN CELL DISEASE; ARTHROGRYPOSIS; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT INHERITANCE; BABINSKI REFLEX; CLINICAL ARTICLE; CLINICAL FEATURE; CLUBFOOT; CONTRACTURE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DYSPHONIA; FASCICULATION; FATTY LIVER; HEART INFARCTION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HIP DYSPLASIA; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; MOTONEURON; MOTOR UNIT POTENTIAL; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PYRAMIDAL SIGN; PYRAMIDAL TRACT; QUADRICEPS FEMORIS MUSCLE; SPINAL MUSCULAR ATROPHY; SPINAL MUSCULAR ATROPHY WITH LOWER EXTREMITY PREDOMINANCE; STRIDOR; WEAKNESS;

EID: 84982085542     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.25114     Document Type: Article

References (8)

1. Frijns CJM, Van Deutekom J, Frants RR, Jennekens FGI. Dominant congenital benign spinal muscular atrophy. Muscle Nerve 1994;17:192–197.
2. van der Vleuten AJ, van Ravenswaaij-Arts CM, Frijns CJ, Smits AP, Hageman G, Padberg GW, et al. Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23–q24. Eur J Hum Genet 1998;6:376–382.
3. Oates EC, Reddel S, Rodriguez ML, Gandolfo LC, Bahlo M, Hawke SH, et al. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain 2012;135:1714–1723.
4. Neveling K, Martinez-Carrera LA, Holker I, Heister A, Verrips A, Hosseini-Barkooie SM, et al. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet 2013;92:946–954.
5. Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet 2013;92:965–973.
6. Peeters K, Litvinenko I, Asselbergh B, Almeida-Souza L, Chamova T, Geuens T, et al. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. Am J Hum Genet 2013;92:955–964.
7. Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, et al. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain 2015;138:293–310.
8. Synofzik M, Martinez-Carrera LA, Lindig T, Schöls L, Wirth B. Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype. J Neurol Neurosurg Psychiatry 2014;85:590–592.