Distal spinal and bulbar muscular atrophy caused by dynactin mutation

Annals of Neurology

Volumn 57, Issue 5, 2005, Pages 687-694

  Puls, Imke ^a   Oh, Shin J ^b,c   Sumner, Charlotte J ^a   Wallace, Karen E ^d   Floeter, Mary Kay ^a   Mann, Eric A ^a   Kennedy, William R ^e   Wendelschafer Crabb, Gwen ^e   Vortmeyer, Alexander ^a   Powers, Richard ^c   Finnegan, Kimberly ^a   Holzbaur, Erika L F ^d   Fischbeck, Kenneth H ^a   Ludlow, Christy L ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b The University of Alabama at Birmingham   (United States)

^c University of Alabama at Birmingham   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e UNIVERSITY OF MINNESOTA MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYNACTIN; DYNEIN ADENOSINE TRIPHOSPHATASE;

ADULT; ARTICLE; AUTOPSY; CONTROLLED STUDY; ELECTROPHYSIOLOGY; FEMALE; HUMAN; HYPOGLOSSAL NUCLEUS; IMMUNOHISTOCHEMISTRY; KENNEDY DISEASE; LARYNX MUSCLE; MALE; MUSCLE WEAKNESS; MUTATION; NERVE DEGENERATION; NERVE FIBER TRANSPORT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN BIOPSY; SPINAL CORD VENTRAL HORN; THENAR; VOCAL CORD PARALYSIS;

ACTION POTENTIALS; ADULT; BRAIN; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; LARYNGEAL DISEASES; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MUSCULAR DISORDERS, ATROPHIC; MUTATION, MISSENSE; NERVE DEGENERATION; NERVE FIBERS; NEURAL CONDUCTION; PEDIGREE; PERIPHERAL NERVES; SKIN; SPINAL CORD; VOCAL CORD PARALYSIS; VOCAL CORDS;

EID: 20944448536     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20468     Document Type: Article

References (40)

1. Zhang B, Higuchi M, Yoshiyama Y, et al. Retarded axonal transport of R406W mutant tau in transgenic mice with a neurodegenerative tauopathy. J Neurosci 2004;24:4657-4667.
2. Szebenyi G, Morfini GA, Babcock A, et al. Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron 2003;40:41-52.
3. Gunawardena S, Her LS, Brusch RG, et al. Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila. Neuron 2003;40:25-40.
4. Williamson TL, Cleveland DW. Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons. Nat Neurosci 1999;2:50-56.
5. Zhang B, Tu P, Abtahian F, et al. Neurofilaments and orthograde transport are reduced in ventral root axons of transgenic mice that express human SOD1 with a G93A mutation. J Cell Biol 1997;139:1307-1315.
6. Hafezparast M, Klocke R, Ruhrberg C, et al. Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science 2003;300:808-812.
7. LaMonte BH, Wallace KE, Holloway BA, et al. Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 2002;34:715-727.
8. Puls I, Jonnakuty C, LaMonte BH, et al. Mutant dynactin in motor neuron disease. Nat Genet 2003;33:455-456.
9. Pearlman RL, Oh SJ. Bilateral vocal cord paralysis as a unique initial symptom in familial bulbar spinal muscular atrophy. Ann Neurol 1989;26:167.
10. Ludlow CL, Mann EA. Neurogenic and functional disorders of the larynx. In: Ballenger J, Snow J, eds. Otorhinolaryngology: head and neck surgery. Baltimore: Williams & Wilkins, 2002.
11. Chen R, Remtulla H, Bolton CF. Electrophysiological study of diaphragmatic myoclonus. J Neurol Neurosurg Psychiatry 1995;58:480-483.
12. Dedo HH, Hall WN. Electrodes in laryngeal electromyography: reliability comparison. Ann Otol Rhinol Laryngol 1969;78:172-180.
13. Dedo HH. The paralyzed larynx: an electromyographic study in dogs and humans. Laryngoscope 1970;80:1445-1517.
14. Hirano M, Ohala J. Use of hooked-wire electrodes for electromyography of the intrinsic laryngeal muscles. J Speech Hear Res 1969;12:362-373.
15. Kennedy WR, Wendelschafer-Crabb G, Johnson T. Quantitation of epidermal nerves in diabetic neuropathy. Neurology 1996;47:1042-1048.
16. Kennedy WR, McArthur JC, Polydefkis M, Wendelschafer-Crabb G. Pathology and quantification of cutaneous innervation. In: Dyck PJ, Thomas PK, eds. Peripheral neuropathy. 4th ed. Philadelphia: WB Saunders, 2004;869-896.
17. Sternberger LA, Sternberger NH. Monoclonal antibodies distinguish phosphorylated and nonphosphorylated forms of neurofilaments in situ. Proc Natl Acad Sci U S A 1983;80:6126-6130.
18. Echeverri CJ, Paschal BM, Vaughan KT, Vallee RB. Molecular characterization of the 50-kD subunit of dynactin reveals fonction for the complex in chromosome alignment and spindle organization during mitosis. J Cell Biol 1996;132:617-633.
19. Ligon LA, Tokito M, Finklestein JM, et al. A direct interaction between cytoplasmic dynein and kinesin I may coordinate motor activity. J Biol Chem 2004;279:19201-19208.
20. Lauria G, Morbin M, Lombardi R, et al. Axonal swellings predict the degeneration of epidermal nerve fibers in painful neuropathies. Neurology 2003;61:631-636.
21. Young ID, Harper PS. Hereditary distal spinal muscular atrophy with vocal cord paralysis. J Neurol Neurosurg Psychiatry 1980;43:413-418.
22. Holinger PC, Vuckovich DM, Holinger LD, Holinger PH. Bilateral abductor vocal cord paralysis in Charcot-Marie-Tooth disease. Ann Otol Rhinol Laryngol 1979;88:205-209.
23. Pridmore C, Baraitser M, Brett EM, Harding AE. Distal spinal muscular atrophy with vocal cord paralysis. J Med Genet 1992;29:197-199.
24. Mace M, Williamson E, Worgan D. Autosomal dominantly inherited adductor laryngeal paralysis - a new syndrome with a suggestion of linkage to HLA. Clin Genet 1978;14:265-270.
25. Donaghy M, Kennett R. Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy. J Neurol 1999;246:552-555.
26. Dyck PJ, Litchy WJ, Minnerath S, et al. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol 1994;35:608-615.
27. Atkins JP. An electromyographic scudy of recurrent laryngeal nerve conduction and its clinical application. Laryngoscope 1973;83:796-807.
28. Plott D. Congenital laryngeal abductor paralysis due to nucleus ambiguus dysgenesis in three brothers. N Engl J Med 1964; 271:593-596.
29. Watters GV, Fitch N. Familial laryngeal abductor paralysis and psychomotor retardation. Clin Genet 1973;4:429-433.
30. Gacek RR. Hereditary abductor vocal cord paralysis. Ann Otol Rhinol Laryngol 1976;85:90-93.
31. 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.
32. McEntagart M, Spurlock G, Jackson C, et al. Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31. J Med Genet 2000;37:E14.
33. Klein CJ, Cunningham JM, Atkinson EJ, et al. The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 2003;60:1151-1156.
34. Baxter RV, Ben Othmane K, Rochelle JM, et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 2002;30:21-22.
35. Cuesta A, Pedrola L, Sevilla T, et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2002;30:22-25.
36. Sevilla T, Cuesta A, Chumillas MJ, et al. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 2003;126:2023-2033.
37. Holzbaur EL. Motor neurons rely on motor proteins. Trends Cell Biol 2004;14:233-240.
38. Chao MV. Retrograde transport redux. Neuron 2003;39:1-2.
39. Munch C, Sedlmeier R, Meyer T, et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 2004;63:724-726.
40. Taylor JP, Hardy J, Fischbeck KH. Toxic proteins in neurodegenerative disease. Science 2002;296:1991-1995.