Motor neuron disease and frontotemporal lobar degeneration: A tale of two disorders linked to TDP-43

NeuroSignals

Volumn 16, Issue 1, 2007, Pages 85-90

  Elman, Lauren B ^a,b   McCluskey, Leo ^a   Grossman, Murray ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b PENNSYLVANIA HOSPITAL   (United States)

Author keywords

Amyotrophic lateral sclerosis; Frontotemporal lobar dementia; Motor neuron disease

Indexed keywords

BIOLOGICAL MARKER; BRAIN PROTEIN; TDP 43 PROTEIN; UNCLASSIFIED DRUG;

CELL INCLUSION; COGNITIVE DEFECT; DEGENERATIVE DISEASE; DISEASE ASSOCIATION; FRONTOTEMPORAL DEMENTIA; HISTOPATHOLOGY; HUMAN; MOTOR NEURON DISEASE; MUSCLE WEAKNESS; NEUROCHEMISTRY; NEUROIMAGING; NEUROPATHOLOGY; PATHOPHYSIOLOGY; PREVALENCE; QUANTITATIVE ANALYSIS; REVIEW; UBIQUITINATION;

AGED; COGNITION DISORDERS; DEMENTIA; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOTOR NEURON DISEASE;

EID: 37349041489     PISSN: 1424862X     EISSN: None     Source Type: Journal    
DOI: 10.1159/000109762     Document Type: Review

References (52)

1. Rowland LP, Shneider NA: Amyotrophic lateral sclerosis. N Engl J Med 2001;344:1688-1700.
2. Rowland LP: How amyotrophic lateral sclerosis got its name: the clinical-pathologic genius of Jean-Martin Charcot. Arch Neurol 2001;58:512-515.
3. Rowland LP: What's in a name? Amyotrophic lateral sclerosis, motor neuron disease, and allelic heterogeneity. Ann Neurol 1998;43:691-694.
4. Rowland LP: Diagnosis of amyotrophic lateral sclerosis. J Neurol Sci 1998;160:S6-S24.
5. Rowland LP: Amyotrophic lateral sclerosis. Curr Opin Neurol 1994;7:310-315.
6. Beghi E, Balzarini C, Bogliun G, et al: Reliability of the El Escorial diagnostic criteria for amyotrophic lateral sclerosis. Neuroepidemiology 2002;21:265-270.
7. Forbes RB, Colville S, Swingler RJ: Are the El Escorial and Revised El Escorial criteria for ALS reproducible? A study of inter-observer agreement. Amyotroph Lateral Scler Other Motor Neuron Disord 2001;2:135-138.
8. Belsh JM: ALS diagnostic criteria of El Escorial Revisited: Do they meet the needs of clinicians as well as researchers? Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1(suppl 1):S57-S60.
9. Lomen-Hoerth C: Characterization of amyotrophic lateral sclerosis and frontotemporal dementia. Dement Geriatr Cogn Disord 2004;17:337-341.
10. Lomen-Hoerth C, Murphy J, Langmore S, Kramer JH, Olney RK, Miller B: Are amyotrophic lateral sclerosis patients cognitively normal? Neurology 2003;60:1094-1097.
11. Mitsumoto H, Przedborski S, Gordon PH: Amyotrophic Lateral Sclerosis. New York, Taylor and Francis, 2006.
12. Rowland LP: Primary lateral sclerosis: disease, syndrome, both or neither? J Neurol Sci 1999;170:1-4.
13. Miller ET: Caring versus curing. Rehabil Nurs 2006;31:182-183.
14. Miller RG, Mitchell JD, Lyon M, Moore DH: Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Amyotroph Lateral Scler Other Motor Neuron Disord 2003;4:191-206.
15. Miller RG: Examining the evidence about treatment in ALS/MND. Amyotroph Lateral Scler Other Motor Neuron Disord 2001;2:3-7.
16. Miller RG, Rosenberg JA, Gelinas DF, et al: Practice parameter: The care of the patient with amyotrophic lateral sclerosis (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy Of Neurology: ALS Practice Parameters Task Force. Neurology 1999;52:1311-1323.
17. Rosso SM, Donker Kaat L, Baks T, et al: Frontotemporal dementia in the netherlands: patient characteristics and prevalence estimates from a population-based study. Brain 2003;126:2016-2022.
18. Neary D, Snowden JS, Gustafson L, et al: Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998;51:1546-1554.
19. Murphy JM, Henry RG, Langmore S, Kramer JH, Miller BL, Lomen-Hoerth C: Continuum of frontal lobe impairment in amyotrophic lateral sclerosis. Arch Neurol 2007;64:530-534.
20. Abrahams S, Leigh PN, Harvey A, Vythelingum GN, Grise D, Goldstein LH: Verbal fluency and executive dysfunction in amyotrophic lateral sclerosis (ALS). Neuropsychologia 2000;38:734-747.
21. Bak TH, Hodges JR: The effects of motor neurone disease on language: further evidence. Brain Lang 2004;89:354-361.
22. Rakowicz WP, Hodges JR: Dementia and aphasia in motor neuron disease: an underrecognised association? J Neurol Neurosurg Psychiatry 1998;65:881-889.
23. Massman PJ, Sims J, Cooke N, Haverkamp LJ, Appel V, Appel SH: Prevalence and correlates of neuropsychological deficits in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 1996;61:450-455.
24. Rippon GA, Scarmeas N, Gordon PH, et al: An observational study of cognitive impairment in amyotrophic lateral sclerosis. Arch Neurol 2006;63:345-352.
25. Ringholz GM, Appel SH, Bradshaw M, Cooke NA, Mosnik DM, Schulz PE: Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 2005;65:586-590.
26. Murphy J, Henry R, Lomen-Hoerth C: Establishing subtypes of the continuum of frontal lobe impairment in amyotrophic lateral sclerosis. Arch Neurol 2007;64:330-334.
27. Kertesz A, Nadkarni N, Davidson W, Thomas AW: The Frontal Behavioral Inventory in the differential diagnosis of frontotemporal dementia. J Int Neuropsychol Soc 2000;6:460-468.
28. Chan S, Shungu DC, Douglas-Akinwande A, Lange DJ, Rowland LP: Motor neuron diseases: comparison of single-voxel proton MR spectroscopy of the motor cortex with MR imaging of the brain. Radiology 1999;212:763-769.
29. Oba H, Araki T, Ohtomo K, et al: Amyotrophic lateral sclerosis: T2 shortening in motor cortex at MR imaging. Radiology 1993;189:843-846.
30. Kassubek J, Unrath A, Huppertz HJ, et al: Global brain atrophy and corticospinal tract alterations in ALS, as investigated by voxel-based morphometry of 3-D MRI. Amyotroph Lateral Scler Other Motor Neuron Disord 2005;6:213-220.
31. Grosskreutz J, Kaufmann J, Fradrich J, Dengler R, Heinze HJ, Peschel T: Widespread sensorimotor and frontal cortical atrophy in amyotrophic lateral sclerosis. BMC Neurol 2006;6:17.
32. Chang JL, Lomen-Hoerth C, Murphy J, et al: A voxel-based morphometry study of patterns of brain atrophy in ALS and ALS/FTLD. Neurology 2005;65:75-80.
33. Mezzapesa DM, Ceccarelli A, Dicuonzo F, et al: Whole-brain and regional brain atrophy in amyotrophic lateral sclerosis. Am J Neuroradiol 2007;28:255-259.
34. Pierpaoli C, Basser PJ: Toward a quantitative assessment of diffusion anisotropy. Magn Reson Med 1996;36:893-906.
35. Basser PJ, Pajevic S, Pierpaoli C, Duda J, Aldroubi A: In vivo fiber tractography using DT-MRI data. Magn Reson Med 2000;44:625-632.
36. Wang S, Poptani H, Woo JH, et al: Amyotrophic lateral sclerosis: diffusion-tensor and chemical shift MR imaging at 3.0 T. Radiology 2006;239:831-838.
37. Ellis CM, Simmons A, Dawson JM, Williams SC, Leigh PN: Distinct hyperintense MRI signal changes in the corticospinal tracts of a patient with motor neuron disease. Amyotroph Lateral Scler Other Motor Neuron Disord 1999;1:41-44.
38. Toosy AT, Werring DJ, Orrell RW, et al: Diffusion tensor imaging detects corticospinal tract involvement at multiple levels in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2003;74:1250-1257.
39. Studholme C, Cardenas V, Blumenfeld R, et al: Deformation tensor morphometry of semantic dementia with quantitative validation. Neuroimage 2004;21:1387-1398.
40. Wang S, Poptani H, Bilello M, et al: Diffusion tensor imaging in amyotrophic lateral sclerosis: volumetric analysis of the corticospinal tract. Am J Neuroradiol 2006;27:1234-1238.
41. Kaufmann P, Pullman SL, Shungu DC, et al: Objective tests for upper motor neuron involvement in amyotrophic lateral sclerosis (ALS). Neurology 2004;62:1753-1757.
42. Jones AP, Gunawardena WJ, Coutinho CM, Gatt JA, Shaw IC, Mitchell JD: Preliminary results of proton magnetic resonance spectroscopy in motor neurone disease (amytrophic lateral sclerosis). J Neurol Sci 1995;129:85-89.
43. Abe K, Takanashi M, Watanabe Y, et al: Decrease in N-acetylaspartate/ creatine ratio in the motor area and the frontal lobe in amyotrophic lateral sclerosis. Neuroradiology 2001;43:537-541.
44. Mitsumoto H, Ulug AM, Pullman SL, et al: Quantitative objective markers for upper and lower motor neuron dysfunction in ALS. Neurology 2007;68:1402-1410.
45. Pohl C, Block W, Traber F, et al: Proton magnetic resonance spectroscopy and transcranial magnetic stimulation for the detection of upper motor neuron degeneration in ALS patients. J Neurol Sci 2001;190:21-27.
46. Pohl C, Block W, Karitzky J, et al: Proton magnetic resonance spectroscopy of the motor cortex in 70 patients with amyotrophic lateral sclerosis. Arch Neurol 2001;58:729-735.
47. Rooney WD, Miller RG, Gelinas D, Schuff N, Maudsley AA, Weiner MW: Decreased N-acetylaspartate in motor cortex and corticospinal tract in ALS. Neurology 1998;50:1800-1805.
48. Bowen BC, Bradley WG: Amyotrophic lateral sclerosis: the search for a spectroscopic marker of upper motoneuron involvement. Arch Neurol 2001;58:714-716.
49. Beckman JS, Estevez AG, Crow JP, Barbeito L: Superoxide dismutase and the death of motoneurons in ALS. Trends Neurosci 2001;24:S15-S20.
50. Morrison BM, Morrison JH: Amyotrophic lateral sclerosis associated with mutations in superoxide dismutase: a putative mechanism of degeneration. Brain Res Brain Res Rev 1999;29:121-135.
51. Forman MS, Farmer J, Johnson JK, et al: Frontotemporal dementia: clinicopathological correlations. Ann Neurol 2006;59:952-962.
52. Neumann M, Sampathu DM, Kwong LK, et al: Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130-133.