Two Japanese patients with SMA type 1 suggest that axonal-SMN may not modify the disease severity

Pediatric Neurology

Volumn 52, Issue 6, 2015, Pages 638-641

  Yamada, Hiroyuki ^a,b   Nishida, Yoshinobu ^a   Maihara, Toshiro ^a   Sa'Adah, Nihayatus ^c   Harahap, Nur Imma Fatimah ^c   Nurputra, Dian Kesumapramudya ^c   Ar Rochmah, Mawaddah ^c   Nishimura, Noriyuki ^c   Saito, Toshio ^d   Kubo, Yuji ^e   Saito, Kayoko ^e   Nishio, Hisahide ^c  

^a Hyogo Prefectural Tsukaguchi Hospital   (Japan)

^b Public Toyooka Hospital   (Japan)

^c KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d TONEYAMA NATIONAL HOSPITAL   (Japan)

^e TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

axonal SMN; C terminal domain; full length SMN1; spinal muscular atrophy

Indexed keywords

NEURONAL APOPTOSIS INHIBITORY PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; SMN1 PROTEIN, HUMAN;

AMINO TERMINAL SEQUENCE; APNEA; ARM; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CHILD; DISEASE SEVERITY; DYSPHAGIA; DYSPNEA; EXON; EYE MOVEMENT; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANCY; INFANT; INTRON; JAPANESE (PEOPLE); LEG; MALE; MECHANICAL VENTILATOR; MODIFIER GENE; MOLECULAR GENETICS; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NASOGASTRIC TUBE; NERVE FIBER; NEUROLOGIC EXAMINATION; PNEUMONIA; POSITIVE END EXPIRATORY PRESSURE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; RESPIRATORY FAILURE; SPINAL MUSCULAR ATROPHY; SPINAL MUSCULAR ATROPHY TYPE 1; TENDON REFLEX; THORAX DEFORMITY; TRACHEOSTOMY; AXON; DNA MUTATIONAL ANALYSIS; GENETICS; METABOLISM; MUTATION; SEVERITY OF ILLNESS INDEX; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

AXONS; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INFANT; MALE; MUTATION; SEVERITY OF ILLNESS INDEX; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 84930379541     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2015.02.023     Document Type: Article

References (11)

1. L. Munsat, and K.E. Davies International SMA Consortium meeting. (26-28 June 1992, Bonn, Germany) Neuromuscul Disord 2 1992 423 428
2. S. Lefebvre, L. Bürglen, and S. Reboullet Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 1995 155 165
3. N. Roy, M.S. Mahadevan, and M. McLean The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy Cell 80 1995 167 178
4. B. Wirth An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) Hum Mutat 15 2000 228 237
5. M. Feldkötter, V. Schwarzer, and R. Wirth Quantitative analyses of SMN1 and SMN2 based on Real-Time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of Spinal Muscular Atrophy Am J Hum Genet 70 2002 358 368
6. V. Setola, M. Terao, and D. Locatelli Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis Proc Natl Acad Sci USA 104 2007 1959 1964
7. D. Locatelli, P. d'Errico, and S. Capra Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron J Neurochem 121 2012 465 474
8. T. Yamamoto, H. Sato, and P.S. Lai Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients Brain Dev 36 2014 914 920
9. H.L. Zhang, F. Pan, and D. Hong Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization J Neurosci 23 2003 6627 6637
10. C.L. Lorson, J. Strasswimmer, and J.M. Yao SMN oligomerization defect correlates with spinal muscular atrophy severity Nat Genet 19 1998 63 66
11. T. Kotani, R. Sutomo, and T.H. Sasongko A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins J Neurol 254 2007 624 630