A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 12, 2014, Pages 1437-1439

  Canosa, Antonio ^a,b   Calvo, Andrea ^a   Moglia, Cristina ^a   Iazzolino, Barbara ^a   Brunetti, Maura ^c   Restagno, Gabriella ^c   Cistaro, Angelina ^d   Fania, Piercarlo ^d   Carrara, Giovanna ^c   Valentini, Maria Consuelo ^c   Tanel, Raffaella ^e   Chiò, Adriano ^a,f  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

^d IRMET SpA   (Italy)

^e Azienda Provinciale per i Servizi Sanitari (APSS)   (Italy)

^f Neuroscience Institute of Turin   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; SUPEROXIDE DISMUTASE;

AGED; AMYOTROPHIC LATERAL SCLEROSIS; BRAIN; CASE REPORT; COGNITIVE DEFECT; COMPLICATION; FAMILY; FEMALE; GENETICS; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; VERY ELDERLY;

AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; BRAIN; COGNITION DISORDERS; FAMILY; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION, MISSENSE; NEUROIMAGING; SUPEROXIDE DISMUTASE;

EID: 84899035402     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-307552     Document Type: Letter

References (6)

1. Renton AE, Chiò A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 2014;17:17-23.
2. Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995;10:61-6.
3. Andersen PM, Sims KB, Xin WW, 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.
4. 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;47:554-60.
5. Origone P, Caponnetto C, Mantero V, et al. Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. Amyotroph Lateral Scler 2012;13:144-8.
6. Wicks P, Abrahams S, Papps B, et al. SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis. J Neurol 2009;256:234-41.