Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype

Journal of Neurology

Volumn 255, Issue 6, 2008, Pages 927-928

  Haberlova J ^a   Claeys, K G ^b,c   Zamecnik J ^a   De Jonghe, P ^b,c   Seeman, P ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CEREBRAL PALSY; CHILD; DISEASE ASSOCIATION; ELECTROMYOGRAM; EVOKED RESPONSE; GENE; GENE MUTATION; GENETIC ANALYSIS; GLIOSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; LETTER; MALE; MUSCLE BIOPSY; NERVE BIOPSY; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SENSORY NEUROPATHY; SPG3A GENE;

CHILD; CODON; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR ATROPHY; MUTATION; PERIPHERAL NERVES; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SEVERITY OF ILLNESS INDEX; SPASTIC PARAPLEGIA, HEREDITARY; SURAL NERVE; WALLERIAN DEGENERATION;

EID: 50049131077     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0598-z     Document Type: Letter

References (9)

1. Fink 2003 Arch Neurol 60 1045
2. Zhao 2001 Nat Genet 29 326
3. Namekawa 2006 Neurology 66 112
4. Rainier 2006 Arch Neurol 63 445
5. Scarano 2005 J Neurol 252 901
6. Ivanova 2007 Arch Neurol Arch Neurol 64 706
7. Dalpozzo 2003 Neurology 61 580
8. Marchler-Bauer 2005 Nucleic Acids Res 33 D192
9. Zhu 2006 Hum Mol Genet 15 1343