PMID- 16482866
OWN - NLM
STAT- MEDLINE
DCOM- 20060324
LR  - 20220419
IS  - 0300-9009 (Print)
IS  - 0300-9009 (Linking)
VI  - 105
IP  - 4
DP  - 2005 Dec
TI  - Neuromuscular junction channelopathies: a brief overview.
PG  - 181-6
AB  - The neuromuscular junction lacks the protection of the blood-nerve barrier and is 
      vulnerable to antibody-mediated disorders. In myasthenia gravis (MG), 85% of 
      patients have IgG antibodies to acetylcholine receptors (AChRs). About half the 
      remaining patients have IgG antibodies to Muscle Specific Kinase (MuSK), an 
      AChR-associated transmembrane post-synaptic protein concerned in AChR 
      aggregation. Bulbar weakness is typically predominant in this form of MG, and 
      females are more often affected. The Lambert-Eaton Myasthenic Syndrome (LEMS) can 
      occur in a paraneoplastic form (P-LEMS) usually with small cell lung cancer, or 
      in a non-paraneoplastic form (NP-LEMS). In both, IgG antibodies to nerve terminal 
      voltage-gated calcium channels (VGCCs), detectable in over 90% of patients, lead 
      to VGCC loss and impaired quantal release of transmitter and may be implicated in 
      the occasionally associated cerebellar ataxia. Neuromyotonia (NMT) and 
      Cramp-Fasciculation syndrome (C-FS) are manifestations of peripheral nerve 
      hyperexcitability and share some clinical and electromyographic features. 
      Antibodies to voltage-gated potassium channels (VGKCs) are present in about 40% 
      of NMT patients, but less frequently in C-FS, and appear to cause loss of 
      functional VGKCs. They may also be implicated in the Maladie de Morvan and limbic 
      encephalitis that can associate with NMT: The antibodies described here provide 
      valuable aids to diagnosis and management. The Congenital Myasthenic Syndromes 
      are a group of genetically determined heterogeneous disorders, usually 
      recessively inherited. The commonest mutation sites appear to be the 
      acetylcholine receptor epsilon-subunit and rapsyn.
FAU - Newsom-Davis, John
AU  - Newsom-Davis J
AD  - University of Oxford, Department of Clinical Neurology, Oxford, UK. 
      john.newsomdavis@btinternet.com
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Italy
TA  - Acta Neurol Belg
JT  - Acta neurologica Belgica
JID - 0247035
RN  - 0 (Calcium Channels)
SB  - IM
MH  - Adult
MH  - Animals
MH  - *Calcium Channels/metabolism
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Neuromuscular Junction Diseases/*physiopathology
RF  - 29
EDAT- 2006/02/18 09:00
MHDA- 2006/03/25 09:00
CRDT- 2006/02/18 09:00
PHST- 2006/02/18 09:00 [pubmed]
PHST- 2006/03/25 09:00 [medline]
PHST- 2006/02/18 09:00 [entrez]
PST - ppublish
SO  - Acta Neurol Belg. 2005 Dec;105(4):181-6.