Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2

European Journal of Human Genetics

Volumn 20, Issue 11, 2012, Pages 1193-1196

  Penttilä, Sini ^a   Jokela, Manu ^b   Hackman, Peter ^c   Maija Saukkonen, Anna ^d   Toivanen, Jari ^d   Udd, Bjarne ^a,c,e  

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b TURKU UNIVERSITY HOSPITAL   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d NORTH KARELIA CENTRAL HOSPITAL   (Finland)

^e VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

linkage analysis; motor neuron disease; spinal muscular atrophy

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT LATE ONSET LOWER MOTOR NEURONOPATHY; CHROMOSOME 22Q; CLINICAL ARTICLE; CLINICAL FEATURE; DNA FLANKING REGION; FEMALE; FINLAND; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HUMAN TISSUE; MALE; MOTOR NEURON DISEASE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; FINLAND; GENETIC LINKAGE; GENETIC LOCI; GENOME, HUMAN; HUMANS; MALE; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; PEDIGREE;

EID: 84867746045     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.76     Document Type: Article

References (25)

1. Irobi J, Dierick I, Jordanova A, Claeys KG, De Jonghe P, Timmerman V: Unraveling the genetics of distal hereditary motor neuronopathies. Neuromolecular Med 2006; 8: 131-146.
2. Van Den Bosch L, Timmerman V: Genetics of motor neuron disease. Curr Neurol Neurosci Rep 2006; 6: 423-431.
3. Zerres K, Rudnik-Schoneborn S: 93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA)-clinical picture (6-8 April 2001, Naarden, The Netherlands). Neuromuscul Disord 2003; 13: 179-183.
4. Darras BT: Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology 2011; 77: 312-314.
5. Puls I, Jonnakuty C, LaMonte BH et al: Mutant dynactin in motor neuron disease. Nat Genet 2003; 33: 455-456.
6. Kennerson ML, Nicholson GA, Kaler SG et al: Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet 2010; 86: 343-352.
7. Antonellis A, Ellsworth RE, Sambuughin N et al: Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003; 72: 1293-1299.
8. Grohmann K, Schuelke M, Diers A et al: Mutations in the gene encoding immuno-globulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 2001; 29: 75-77.
9. Windpassinger C, Auer-Grumbach M, Irobi J et al: Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and silver syndrome. Nat Genet 2004; 36: 271-276.
10. Irobi J, Van Impe K, Seeman P et al: Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 2004; 36: 597-601.
11. Evgrafov OV, Mersiyanova I, Irobi J et al: Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004; 36: 602-606.
12. Kolb SJ, Snyder PJ, Poi EJ et al: Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology 2010; 74: 502-506.
13. McEntagart M, Norton N, Williams H et al: Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. Am J Hum Genet 2001; 68: 1270-1276.
14. Gopinath S, Blair IP, Kennerson ML, Durnall JC, Nicholson GA: A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. Hum Genet 2007; 121: 559-564.
15. Nishimura AL, Mitne-Neto M, Silva HC et al: A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004; 75: 822-831.
16. Rudnik-Schoneborn S, Botzenhart E, Eggermann T et al: Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. Neurogenetics 2007; 8: 137-142.
17. Deng HX, Klein CJ, Yan J et al: Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 2010; 42: 165-169.
18. Takashima H, Nakagawa M, Suehara M et al: Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. Neuromuscul Disord 1999; 9: 368-371.
19. Harms MB, Allred P, Gardner Jr R et al: Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology 2010; 75: 539-546.
20. Jokela M, Penttila S, Huovinen S et al: Late-onset lower motor neuronopathy: a new autosomal dominant disorder. Neurology 2011; 77: 334-340.
21. Kong A, Gudbjartsson DF, Sainz J et al: A high-resolution recombination map of the human genome. Nat Genet 2002; 31: 241-247.
22. Abecasis GR, Cherny SS, Cookson WO, Cardon LR: Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30: 97-101.
23. Al-Chalabi A, Andersen PM, Nilsson P et al: Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet 1999; 8: 157-164.
24. Taherzadeh-Fard E, Saft C, Wieczorek S, Epplen JT, Arning L: Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1. Neurogenetics 2010; 11: 435-439.
25. Yang H, Sasaki T, Minoshima S, Shimizu N: Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway. Genomics 2007; 90: 249-260.