Neuromuscular Transmission in SCA6 [5]

Annals of Neurology

Volumn 55, Issue 3, 2004, Pages 451-452

  Schelhaas, H Jurgen ^a   Van De Warrenburg, Bart P C ^a   Kremer, Hubertus P H ^a   Zwarts, Machiel J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; POLYGLUTAMINE;

ADULT; AGED; ATAXIA; CLINICAL ARTICLE; ELECTROMYOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENE; HUMAN; LETTER; MALE; MUSCLE WEAKNESS; NEUROMUSCULAR SYNAPSE; NEUROMUSCULAR TRANSMISSION; PHENOTYPE; PRIORITY JOURNAL; PURKINJE CELL; SCA6 GENE; SPINOCEREBELLAR DEGENERATION;

ADULT; AGED; ELECTROMYOGRAPHY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLES; NEUROMUSCULAR JUNCTION; SPINOCEREBELLAR ATAXIAS; SYNAPTIC TRANSMISSION; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 1442304870     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20015     Document Type: Letter

References (5)

1. Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia type 6 (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage dependent calcium channel. Nat Genet 1997;15:62-69.
2. Uchitel OD, Protti DA, Sanchez V, et al. P-type voltage dependant calcium channel mediates presynaptic calcium influx and transmitter release in mammalian synapses. Proc Natl Acad Sci USA 1992;89:3330-3333.
3. 2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6. J Neurosci 2001;21:9185-9193.
4. Jen J, Wan J, Graves M, et al. Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology 2001;57:1843-1848.
5. Restituito S, Thompson RM, Eliet J, et al. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a β subunitspecific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. J Neurosci 2000;20:6394-6403.