Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 84, Issue 8, 2013, Pages 943-944

  Klein, Christopher J ^a   Wu, Yanhong ^a   Duan, Xiaohui ^a   Middha, Sumit ^a   Dawson, Brian D ^a   Kocher, Jean Pierre ^a   Dyck, Peter J ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; AREFLEXIA; CASE REPORT; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DYSARTHRIA; DYSPHAGIA; EXOME; FAMILY HISTORY; FASCICULATION; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; KENNEDY DISEASE; LETTER; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MOTOR UNIT POTENTIAL; PARESTHESIA; PEDIGREE ANALYSIS; PERONEUS NERVE PARALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOD1 GENE; WHOLE EXOME SEQUENCING;

EID: 84879979036     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-305400     Document Type: Letter

References (5)

1. Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol 2011;7:603-15.
2. Klein CJ, Duan X, Shy ME. The inherited neuropathies: clinical overview and update. Muscle Nerve. In Press.
3. Weber M, Neuwirth C, Thierbach J, et al. ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival. J Neurol Neurosurg Psychiatry 2012;83:351-3.
4. Abel O, Powell JF, Andersen PM, et al. ALSoD: a user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat 2012;33:1345-51.
5. Montenegro G, Powell E, Huang J, et al. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol 2011;69:464-70.