D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings

Amyotrophic Lateral Sclerosis

Volumn 11, Issue 1-2, 2010, Pages 216-219

  Giannini, Fabio ^a   Battistini, Stefania ^a   Mancuso, Michelangelo ^b   Greco, Giuseppe ^a   Ricci, Claudia ^a   Volpi, Nila ^a   Del Corona, Alberto ^b   Piazza, Selina ^b   Siciliano, Gabriele ^b  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF PISA   (Italy)

Author keywords

D90A; Sensory neuropathy; SOD1

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; IMMUNOGLOBULIN; PROTEIN; PROTEIN D90A; STEROID; UNCLASSIFIED DRUG;

ACTION POTENTIAL; ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARM WEAKNESS; ARTICLE; CASE REPORT; DENERVATION; DNA SEQUENCE; DRUG WITHDRAWAL; DYSARTHRIA; DYSPHAGIA; ELECTROMYOGRAM; EVOKED MUSCLE RESPONSE; FASCICULATION; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; HYPESTHESIA; ITALY; LEG; LEG CRAMP; MALE; MUSCLE ATROPHY; NERVE BIOPSY; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; PERONEUS NERVE PARALYSIS; PRIORITY JOURNAL; QUADRIPLEGIA; SKIN TINGLING; TRANSCRANIAL MAGNETIC STIMULATION;

AMYOTROPHIC LATERAL SCLEROSIS; BIOPSY; EXONS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; ITALY; MALE; MIDDLE AGED; POINT MUTATION; PREVALENCE; SUPEROXIDE DISMUTASE; SURAL NERVE;

EID: 77649331296     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482960902721642     Document Type: Article

References (19)

1. Boukaftane Y, Khoris J, Moulard B, Salachas F, Meininger V, Malafosse A, et al. Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci. 1998;25:192-6.
2. Andersen PM, Nilsson P, Keranen ML, Forsgren L, Hägglund J, Karlsborg M, et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain. 1997;120:1723-37.
3. Hand CK, Mayeux-Portas V, Khoris J, Briolotti V, Clavelou P, Camu W, et al. Compound heterozygous D90A and D96N-SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol. 2001;49:267-71.
4. Robberecht W, Aguirre T, van den Bosch L, Tilkin P, Cassiman JJ, Matthijs G. D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology. 1996;47:1336-9.
5. Skvortsova VI, Limborska SA, Slominsky PA, Levitskaya NI, Levitsky GN, Shadrina MI, et al. Sporadic ALS associated with the D90A-Cu/Zn superoxide dismutase mutation in Russia. Eur J Neurol. 2001;8:167-72.
6. Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE. Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol. 1997;42:803-7.
7. Parton MJ, Broom W, Andersen PM, Al-Chalabi A, Nigel Leigh P, Powell JF, et al. D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype. Hum Mutat. 2002;20:473-80.
8. Andersen PM, Sims KB, XinWW, Kiely R, O'Neill G, Ravits J, et al. Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003;4:62-73.
9. Corcia P, Jafari-Schluep H-F, Camu W. Reply to 'Disease penetrance in Amyotrophic Lateral Sclerosis associated with mutations in the SOD1 gene'. Annals of Neurology. 2004;55:299.
10. Gamez J, Corbera-Bellalta M, Nogales G, Raguer N, Garc?́a- Arum?́ E, Badia-Canto M, et al. Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1? J Neurol Sci. 2006;247:21-8.
11. Mancuso M, Filosto M, Naini A, Rocchi A, del Corona A, Sartucci F, et al. A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002;3:215-8.
12. Conforti FL, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, et al. Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. Amyotrophic Lateral Sclerosis. 2008;2:1-3.
13. Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, et al. Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromuscul Disord. 2001;11:404-10.
14. Jonsson PA, Bäckstrand A, Andersen PM, Jacobsson J, Parton M, Shaw C, et al. Cu/Zn superoxide dismutase in D90A heterozygotes from recessive and dominant ALS pedigrees. Neurobiol Dis. 2002;10:327-33.
15. Pugdahl K, Fuglsang-Frederiksen A, De Carvalho M, Johnsen B, Fawcett PR, Labarre-Vila A, et al. Genaralized sensory system abnormalities in amyotrophic lateral sclerosis: a European multicentre study. J Neurol Neurosurg Psychiatry. 2007;78:746-9.
16. Isaacs JD, Dean AF, Shaw CE, Al-Chalabi A, Mills KR, Leigh PN. Amyotrophic lateral sclerosis with sensory neuropathy: part of multisystem disorder? J Neurol Neurosurg Psychiatry. 2007;78:750-3.
17. Kawata A, Kato S, Hayashi H, Hirai S. Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with G93S mutation in the SOD1 gene. J Neurol Sci. 1997;153:82-5.
18. Régal L, Vanopdenbosch L, Tilkin P, Van Den Bosch L, Thijs V, Sciot R, et al. The G93C mutation in superoxide dismutase 1. Clinicopathologic phenotype and prognosis. Arch Neurol. 2006;63:262-7.
19. Rezania K, Yan J, Dellefave L, Deng HX, Siddique N, Pascuzzi RT, et al. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003;3:162-6.