Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations

Journal of Neurology

Volumn 255, Issue 7, 2008, Pages 1049-1058

  Brockmann, Knut ^a   Dreha Kulaczewski, Steffi ^a   Dechent, Peter ^a   Bönnemann, Carsten ^b   Helms, Gunther ^a   Kyllerman, Marten ^c   Brück, Wolfgang ^a   Frahm, Jens ^d   Huehne, Kathrin ^e   Gärtner, Jutta ^a   Rautenstrauss, Bernd ^e,f  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^d Biomedizinische NMR Forschungs GmbH   (Germany)

^e UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^f Medical Genetic Center   (Germany)

Author keywords

Charcot Marie Tooth disease; Hereditary motor and sensory neuropathy; Macrocephaly; Magnetic resonance spectroscopy; Mitofusin

Indexed keywords

CHOLINE; CREATINE; CREATINE PHOSPHATE; INOSITOL; LACTIC ACID; MITOFUSIN 2; N ACETYLASPARTIC ACID; N ACETYLASPARTYLGLUTAMIC ACID;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DEMYELINATION; DIFFUSION TENSOR IMAGING; ELECTROENCEPHALOGRAPHY; ELECTRON MICROSCOPY; FAMILY HISTORY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GLIOSIS; HAND FUNCTION; HEAD CIRCUMFERENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; MACROCEPHALY; MALE; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; MUTATIONAL ANALYSIS; NERVE BIOPSY; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; ONSET AGE; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; SCHOOL CHILD; SENSORY NERVE CONDUCTION; WALKING;

ADOLESCENT; ADULT; AXONS; CEREBRAL CORTEX; CHARCOT-MARIE-TOOTH DISEASE; CHILD; DIFFUSION MAGNETIC RESONANCE IMAGING; DNA MUTATIONAL ANALYSIS; HUMANS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; NEUROLOGIC EXAMINATION;

EID: 50049117208     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0847-1     Document Type: Article

References (35)

1. Amato 1996 Muscle Nerve 19 770
2. Bach 2003 J Biol Chem 278 17190
3. Baloh 2007 J Neurosci 27 422
4. Bjartmar 2002 Ann Neurol 51 51
5. Brand 1993 Dev Neurosci 15 289
6. Brockmann 2007 Brain & Development 29 357
7. Chen 2003 J Cell Biol 160 189
8. Cho 2007 Clin Genet 71 267
9. Chung 2006 Brain 129 2103
10. Dackovic 2001 Eur J Neurol 8 689
11. Engelfried 2006 BMC Med Genet 7 53
12. Frahm 1996 Neuropediatrics 27 64
13. Frahm 1990 J Magn Reson 90 464
14. Frith 1994 J Neurol Neurosurg Psychiatry 57 1343
15. Griffin 2001 FEBS Lett 509 263
16. Hales 1997 Cell 90 121
17. Hanemann 2003 Arch Neurol 60 605
18. Harding 1984 J Neurol Neurosurg Psychiatry 47 168
19. Kijima 2005 Hum Genet 116 23
20. Lawson 2005 Neurology 65 197
21. Lee 2002 J Neurol Neurosurg Psychiatry 73 304
22. Natt 2005 Magn Reson Med 53 3
23. Panas 1998 J Neurol Neurosurg Psychiatry 65 947
24. Paulson 2002 Ann Neurol 52 429
25. Pich 2005 Hum Mol Genet 14 1405
26. Provencher 1993 Magn Reson Med 30 672
27. Rieseberg 2005 Magn Reson Med 54 486
28. Saifi 2003 J Investig Med 51 261
29. Santel 2001 J Cell Sci 114 867
30. Urenjak 1993 J Neurosci 13 981
31. Verhoeven 2006 Brain 129 2093
32. Vucic 2003 Neurology 60 696
33. Zhu 2005 Neurology 65 496
34. Zuchner 2006 Ann Neurol 59 276
35. Zuchner 2004 Nat Genet 36 449