An autopsy case of familial amyotrophic lateral sclerosis with a TARDBP Q343R mutation

Neuropathology

Volumn 35, Issue 5, 2015, Pages 462-468

  Okamoto, Koichi ^a   Fujita, Yukio ^b   Hoshino, Eri ^b   Tamura, Yuhji ^d   Fukuda, Toshio ^c   Hasegawa, Masato ^e   Takatama, Masamitsu ^a  

^a GERIATRICS RESEARCH INSTITUTE AND HOSPITAL   (Japan)

^b GUNMA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c GUNMA UNIVERSITY   (Japan)

^d Department of Internal Medicine Kiboukan Hospital   (Japan)

^e TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

Author keywords

Amyotrophic lateral sclerosis; p62; Pathology; TARDBPQ343R mutation; TDP 43

Indexed keywords

PROTEIN P62; TAR DNA BINDING PROTEIN; UBIQUITIN; DNA BINDING PROTEIN; TDP-43 PROTEIN, HUMAN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ANTERIOR HORN CELL; ARTICLE; ASSISTED VENTILATION; ATROPHY; AUTOPSY; BRONCHOPNEUMONIA; BULBAR PARALYSIS; CASE REPORT; CELL INCLUSION; DYSARTHRIA; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; FAMILIAL DISEASE; GENE; GENE MUTATION; HUMAN; IMMOBILITY; IMMUNOBLOTTING; LIMB WEAKNESS; MALE; MIDDLE AGED; NEURONAL CYTOPLASMIC INCLUSION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; TARDBP GENE; GENETICS; HIPPOCAMPUS; MUTATION; NERVE CELL; PATHOLOGY; SPINAL CORD;

AMYOTROPHIC LATERAL SCLEROSIS; ANTERIOR HORN CELLS; DNA-BINDING PROTEINS; HIPPOCAMPUS; HUMANS; INCLUSION BODIES; MALE; MIDDLE AGED; MUTATION; NEURONS; SPINAL CORD;

EID: 84942824214     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/neup.12209     Document Type: Article

References (32)

1. Wijesekera LC, Leigh PN. Amyotrophic lateral sclerosis. Orphanet J Rare Dis 2009; 4: 3-22.
2. Arai T, Hasegawa M, Akiyama H etal. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 2006; 351: 602-611.
3. Neumann M, Sampathu DM, Kwong LK etal. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-133.
4. Okamoto K. Ubiquitin-positive tau-negative intraneuronal inclusions in dementia with motor neuron disease. Neuropathology 2010; 30: 486-489.
5. Hasegawa M, Arai T, Nonaka T etal. Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol 2008; 64: 60-70.
6. Chen-Plotkin AS, Lee VM-Y, Trojanowski JQ. TAR DNA-binding protein 43 in neurodegenerative disease. Nat Rev Neurol 2010; 6: 211-220.
7. Geser F, Lee VM-Y, Trojanowski JQ. Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: a spectrum of TDP-43 proteinopathies. Neuropathology 2010; 30: 103-112.
8. Benajiba L, Ber IL, Camuzat A etal. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol 2009; 65: 470-474.
9. Borroni B, Bonvicini C, Alberici A etal. Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. Hum Mutat 2009; 30: E974-E983.
10. Tagawa A, Tan C-F, Kikugawa K etal. Familial amyotrophic lateral sclerosis: a SOD1-unrelated Japanese family of bulbar type with Bunina bodies and ubiquitin-positive skein-like inclusions in lower motor neurons. Acta Neuropathol 2007; 113: 205-211.
11. Yokoseki A, Shiga A, Tan C-F etal. TDP-43 mutation in familial amyotrophic lateral sclerosois. Ann Neurol 2008; 63: 538-542.
12. Van Deerlin VM, Leverenz JB, Bekris LM etal. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 2008; 7: 409-416.
13. Pamphlett R, Luquin N, McLean C, Jew SK, Adams L. TDP-43 neuropathology is similar in sporadic amyotrophic lateral sclerosis with or without TDP-43 mutations. Neuropathol Appl Neurobiol 2009; 35: 222-225.
14. Cairns NJ, Perrin RJ, Schmidt RE etal. TDP-43 proteinopathy in familial motor neuron disease with TARDBP A315T mutation: a case report. Neuropathol Appl Neurobiol 2010; 36: 673-679.
15. Tamaoka A, Arai M, Itokawa M etal. TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan. Intern Med 2010; 49: 331-334.
16. Tsuchiya K, Shinani S, Nakabayashi H etal. Famililar amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family. Acta Neuropathol 2000; 100: 603-607.
17. Fujita Y, Ikeda M, Yanagisawa T etal. Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation. Neurology 2011; 77: 1427-1431.
18. Homma T, Nagaoka U, Kawata A etal. Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP. Neuropathol Appl Neurobiol 2014; 40: 231-236.
19. Egawa N, Kitaoka S, Tsukita K etal. Drug screening for ALS using patient-specific induced pluripotent stem cells. Sci Transl Med 2012; 4: 1-8.
20. Nakano I. Frontotemporal dementia with motor neuron disease (amyotrophic lateral sclerosis with dementia). Neuropathology 2000; 1: 68-75.
21. Kadokura A, Yamazaki T, Kakuda S etal. Phosphorylation-dependent TDP-43 antibody detects intraneuronal dot-like structures showing morphological characters of granulovacuolar degeneration. Neurosci Lett 2009; 463: 87-92.
22. Fujita Y, Mizuno Y, Takatama M, Okamoto K. Anterior horn cells with abnormal TDP-43 immunoreactivities show fragmentation of the Golgi apparatus in ALS. J Neurol Sci 2008; 269: 30-34.
23. Okamoto K, Mizuno Y, Fujita Y. Bunina bodies in amyotrophic lateral sclerosis. Neuropathology 2008; 28: 109-115.
24. Mizuno Y, Amari M, Takatama M etal. Immunoreactivities of p62, an ubiquitin-binding protein, in the spinal anterior horn cells of patients with amyotrophic lateral sclerosis. J Neurol Sci 2006; 249: 13-18.
25. Maekawa S, Leigh PL, King A etal. TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but non in familial amyotrophic lateral sclerosis with or without SODI mutations. Neuropathology 2009; 29: 672-683.
26. Giordana MT, Piccinini M, Grifoni S etal. TDP-43 redistribution is an early event in the sporadic amyotrophic lateral sclerosis. Brain Pathol 2010; 20: 351-360.
27. Braak H, Ludolph A, Thal DR etal. Amyotrophic lateral sclerosis: dash-like accumulation of phosphorylated TDP-43 in somatodendritic and axonal compartments of somatomotor neurons of the lower brainstem and spinal cord. Acta Neuropathol 2010; 120: 67-74.
28. Nishihira Y, Tan C-F, Hoshi Y etal. Sporadic amyotrophic lateral sclerosis of long duration is associated with relatively mild TDP-43 pathology. Acta Neuropathol 2009; 117: 45-53.
29. Nishihira Y, Tan C-F, Onodera O etal. Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43 immunoreactive neuronal and glial cytoplasmic inclusions. Acta Neuropathol 2008; 116: 169-182.
30. Mackenzie IRA, Neumann M, Baborie A etal. A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol 2011; 122: 111-113.
31. Tsuji H, Arai T, Kametani F etal. Molecular analysis and biochemical classification of TDP-43 proteinopathy. Brain 2012; 135: 3380-3391.
32. Arai T. Significance and limitation of pathological classification of TDP-43 proteinopathy. Neuropathology 2014; 34: 578-588.