P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis

Neuromuscular Disorders

Volumn 22, Issue 1, 2012, Pages 73-75

  Conte, Amelia ^a   Lattante, Serena ^a   Zollino, Marcella ^a   Marangi, Giuseppe ^a   Luigetti, Marco ^a   Del Grande, Alessandra ^a   Servidei, Serenella ^a   Trombetta, Federica ^a   Sabatelli, Mario ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

FUS gene; Juvenile ALS; Prognosis

Indexed keywords

LEUCINE; PROLINE;

AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; CHILD; DISEASE COURSE; DISEASE SEVERITY; ELECTROMYOGRAPHY; FEMALE; FUS GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MUTATOR GENE; NEUROLOGIC EXAMINATION; ONSET AGE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SCHOOL CHILD; TRACHEOSTOMY;

AMYOTROPHIC LATERAL SCLEROSIS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MUTATION; PHENOTYPE; RNA-BINDING PROTEIN FUS;

EID: 84855993931     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.08.003     Document Type: Article

References (19)

1. Kwiatkowski T.J., Bosco D.A., Leclerc A.L., et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009, 323:1205-1208.
2. Lai S.L., Abramzon Y., Schymick J.C., et al. FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2010, [Epub ahead of print].
3. Bäumer D., Hilton D., Paine S.M., et al. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology 2010, 75:611-618.
4. Chiò A., Restagno G., Brunetti M., et al. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging 2009, 30:1272-1275.
5. Huang E.J., Zhang J., Geser F., et al. Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. Brain Pathol 2010, 20:1069-1076.
6. Ito H., Fujita K., Nakamura M., et al. Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease. Acta Neuropathol 2011, 121:555-557.
7. Ben Hamida M., Hentati F. Juvenile amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis 2000, 59-69. Martin Dunitz, London. R.H. Brown, V. Meiningier, M. Swash (Eds.).
8. Traub R., Mitsumoto H., Rowland L.P. Research advances in amyotrophic lateral sclerosis, 2009 to 2010. Curr Neurol Neurosci Rep 2011, 11:67-77.
9. Gouveia L.O., de Carvalho M. Young-onset sporadic amyotrophic lateral sclerosis: a distinct nosological entity?. Amyotroph Lateral Scler 2007, 8:323-327.
10. Nelson J.S., Prensky A.L. Sporadic juvenile amyotrophic lateral sclerosis. A clinicopathological study of a case with neuronal cytoplasmic inclusions containing RNA. Arch Neurol 1972, 27:300-306.
11. Oda M., Akagawa N., Tabuchi Y., Tanabe H. A sporadic juvenile case of the amyotrophic lateral sclerosis with neuronal intracytoplasmic inclusions. Acta Neuropathol 1978, 44:211-216.
12. Aizawa H., Kimura T., Hashimoto K., Yahara O., Okamoto K., Kikuchi K. Basophilic cytoplasmic inclusions in a case of sporadic juvenile amyotrophic lateral sclerosis. J Neurol Sci 2000, 176:109-113.
13. Ito D., Seki M., Tsunoda Y., Uchiyama H., Suzuki N. Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS. Ann Neurol 2011, 69:152-162.
14. Millecamps S., Salachas F., Cazeneuve C., et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet 2010, 47:554-560.
15. Yan J., Deng H.X., Siddique N., et al. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology 2010, 75:807-814.
16. DeJesus-Hernandez M., Kocerha J., Finch N., et al. De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. Hum Mutat 2010, 31:1377-1389.
17. Yamamoto-Watanabe Y., Watanabe M., Okamoto K., et al. A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report. J Neurol Sci 2010, 296:59-63.
18. Ticozzi N., Silani V., LeClerc A.L., et al. Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. Neurology 2009, 73:1180-1185.
19. Corrado L., Del Bo R., Castellotti B., et al. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet 2010, 47:190-194.