Late-onset spinal motor neuronopathy - A common form of dominant SMA

Neuromuscular Disorders

Volumn 24, Issue 3, 2014, Pages 259-268

  Penttilä, Sini ^a   Jokela, Manu ^b   Huovinen, Sanna ^c   Saukkonen, Anna Maija ^d   Toivanen, Jari ^d   Lindberg, Christopher ^e   Baumann, Peter ^f   Udd, Bjarne ^a,g  

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b TURKU UNIVERSITY HOSPITAL   (Finland)

^c TAMPERE UNIVERSITY HOSPITAL   (Finland)

^d NORTH KARELIA CENTRAL HOSPITAL   (Finland)

^e UNIVERSITY OF GOTHENBURG   (Sweden)

^f LAPLAND CENTRAL HOSPITAL   (Finland)

^g VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

Linkage analysis; Lower motor neuron syndrome; Motor neuron disease

Indexed keywords

LINKAGE ANALYSIS; LOWER MOTOR NEURON SYNDROME; MOTOR NEURON DISEASE;

ADULT; AGE OF ONSET; AGED; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; PEDIGREE;

EID: 84894281169     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.11.010     Document Type: Article

References (34)

1. La Spada A.R., Wilson E.M., Lubahn D.B., Harding A.E., Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352:77-79.
2. Darras B.T. Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology 2011, 77:312-314.
3. Rossor A.M., Kalmar B., Greensmith L., Reilly M.M. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry 2012, 83:6-14.
4. Dierick I., Baets J., Irobi J., et al. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain 2008, 131:1217-1227.
5. Jokela M., Penttilä S., Huovinen S., et al. Late-onset lower motor neuronopathy: a new autosomal dominant disorder. Neurology 2011, 77:334-340.
6. Penttilä S., Jokela M., Hackman P., Saukkonen A.M., Toivanen J., Udd B. Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2. Eur J Hum Genet 2012, 20:1193-1196.
7. Raheem O., Huovinen S., Suominen T., Haapasalo H., Udd B. Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers. Acta Neuropathol 2010, 119:495-500.
8. Robinson J.T., Thorvaldsdottir H., Winckler W., et al. Integrative genomics viewer. Nat Biotechnol 2011, 29:24-26.
9. Thorvaldsdottir H., Robinson J.T., Mesirov J.P. Integrative genomics viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 2013, 14:178-192.
10. Sperfeld A.D., Karitzky J., Brummer D., et al. X-linked bulbospinal neuronopathy: Kennedy disease. Arch Neurol 2002, 59:1921-1926.
11. Hammad M., Silva A., Glass J., Sladky J.T., Benatar M. Clinical, electrophysiologic, and pathologic evidence for sensory abnormalities in ALS. Neurology 2007, 69:2236-2242.
12. Ostern R., Fagerheim T., Orstavik K., et al. Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene. Neuromuscul Disord 2012, 22:511-521.
13. Ferrante M.A., Wilbourn A.J. The characteristic electrodiagnostic features of Kennedy's disease. Muscle Nerve 1997, 20:323-329.
14. Hamano T., Mutoh T., Hirayama M., et al. Muscle MRI findings of X-linked spinal and bulbar muscular atrophy. J Neurol Sci 2004, 222:93-97.
15. Chahin N., Sorenson E.J. Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis. Muscle Nerve 2009, 40:126-129.
16. Feely S.M., Laura M., Siskind C.E., et al. Shy ME.MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology 2011, 76:1690-1696.
17. Friesen W.J., Dreyfuss G. Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN). J Biol Chem 2000, 275:26370-26375.
18. 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.
19. 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.
20. Evgrafov O.V., 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.
21. Kolb S.J., Snyder P.J., Poi E.J., et al. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology 2010, 74:502-506.
22. Antonellis A., Ellsworth R.E., 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.
23. 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.
24. Beetz C., Pieber T.R., Hertel N., et al. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet 2012, 91:139-145.
25. Barwick K.E., Wright J., Al-Turki S., et al. Defective presynaptic choline transport underlies hereditary motor neuropathy. Am J Hum Genet 2012, 91:1103-1107.
26. Puls I., Jonnakuty C., LaMonte B.H., et al. Mutant dynactin in motor neuron disease. Nat Genet 2003, 33:455-456.
27. Chen Y.Z., Bennett C.L., Huynh H.M., et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004, 74:1128-1135.
28. Gopinath S., Blair I.P., Kennerson M.L., Durnall J.C. A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. Hum Genet 2007, 121:559-564.
29. Muglia M., Magariello A., Citrigno L., et al. A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. Clin Genet 2008, 73:486-491.
30. Nishimura A.L., Mitne-Neto M., Silva H.C., 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.
31. 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.
32. Deng H.X., Klein C.J., Yan J., et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 2010, 42:165-169.
33. Harms M.B., Ori-McKenney K.M., Scoto M., et al. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 2012, 78:1714-1720.
34. Ishiura H., Sako W., Yoshida M., et al. The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Am J Hum Genet 2012, 91:320-329.