X-linked Charcot-Marie-Tooth disease with transient splenium lesion on MRI

Internal Medicine

Volumn 45, Issue 1, 2006, Pages 33-34

  Okada, Kazumasa ^a   Fujiwara, Hirotsugu ^a   Tsuji, Sadatoshi ^a  

^a UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

Author keywords

MR; Splenium lesion; X linked Charcot Marie Tooth disease

Indexed keywords

CONNEXIN 32;

ADULT; AREFLEXIA; ARTICLE; CASE REPORT; CODON; CONTRAST ENHANCEMENT; DEMYELINATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE CONDUCTION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; SENSORY DYSFUNCTION; X CHROMOSOME LINKED DISORDER;

BRAIN DISEASES; CHARCOT-MARIE-TOOTH DISEASE; CORPUS CALLOSUM; GENETIC DISEASES, X-LINKED; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED;

EID: 32144432819     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.45.1477     Document Type: Article

References (7)

1. Panas M, Karadimas C, Avramopoulos D, Vassilopoulos D. Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutation. J Neurol Neurosurg Psychiatry 65: 947-948, 1998.
2. Taylor RA, Simon EM, Marks HG, Scherer SS. The CNS phenotype of X-linked Charcot-Marie-Tooth disease. Neurolgy 61: 1475-1478, 2003.
3. Paulson HL, Garbern JY, Hoban TF, et al. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol 52: 429-434, 2002.
4. Lee MJ, Nelson I, Houlden H, et al. Six novel connexin 32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry 73: 304-306, 2002.
5. Schelhaas HJ, van Engelen BG, Gabreëls-Festen AA, et al. Transient cerebral white matter lesions in a patient with connexin 32 missense mutation. Neurology 59: 2007-2008, 2002.
6. Hanemann CO, Bergmann C, Senderek J, Zerres K, Sperfeld AD. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol 60: 605-609, 2003.
7. Doherty MJ, Jayadev S, Watson NF, Konchada RS, Hallam DK. Clinical implications of splenium magnetic resonance imaging signal changes. Arch Neurol 62: 433-437, 2005.