Familial amyotrophic lateral sclerosis with novel A4D SOD1 mutation with late age at onset and rapid progressive course

Neurology and Clinical Neuroscience

Volumn 1, Issue 1, 2013, Pages 45-47

  Naruse, Hiroya ^a   Iwata, Atsushi ^a,b   Takahashi, Yuji ^a   Ichihara, Kazuaki ^c   Kamei, Satoshi ^c   Yamatoku, Masato ^d   Hirayama, Toshikazu ^d   Suzuki, Naoki ^e   Aoki, Masashi ^e   Miyagawa, Toji ^a   Shimizu, Jun ^a   Tsuji, Shoji ^a   Goto, Jun ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c NIHON UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

A4D; ALS mutation database; Amyotrophic lateral sclerosis; SOD1 mutation

Indexed keywords

AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARM WEAKNESS; ARTICLE; CASE REPORT; CONTROLLED STUDY; DEATH; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; DYSARTHRIA; DYSPHAGIA; FACE MUSCLE; FAMILIAL DISEASE; FEMALE; HUMAN; LIMB WEAKNESS; MALE; MUSCLE TWITCH; MUTATION; ONSET AGE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SEQUENCE ANALYSIS;

EID: 84901486414     PISSN: None     EISSN: 20494173     Source Type: Journal    
DOI: 10.1002/ncn3.8     Document Type: Article

References (6)

1. Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Curr. Neurol. Neurosci. Rep. 2006; 6: 37-46.
2. Yoshida M, Takahashi Y, Koike A, Fukuda Y, Goto J, Tsuji S. A mutation database for amyotrophic lateral sclerosis. Hum. Mutat. 2010; 31: 1003-10.
3. Juneja T, Pericak-Vance MA, Laing NG, Dave S, Siddique T. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4 val mutations in Cu, Zn superoxide dismutase. Neurology 1997; 48: 55-7.
4. Nakano R, Inuzuka T, Kikugawa K et al. Instability of mutant Cu/Zn superoxide dismutase (Ala4Thr) associated with familial amyotrophic lateral sclerosis. Neurosci. Lett. 1996; 211: 129-31.
5. Sato T, Nakanishi T, Yamamoto Y et al. Rapid disease progression correlates with instability of mutant SOD1 in familial ALS. Neurology 2005; 65: 1954-7.
6. Baek W, Koh SH, Park JS et al. A novel codon4 mutation (A4F) in the SOD1 gene in familial amyotrophic lateral sclerosis. J. Neurol. Sci. 2011; 306: 157-9.