Q. Yue et al., DE-NOVO MUTATION IN CACNA1A CAUSED ACETAZOLAMIDE-RESPONSIVE EPISODIC ATAXIA, American journal of medical genetics, 77(4), 1998, pp. 298-301
With the recent report of mutations in the calcium channel gene CACNA1
A in two families with episodic ataxia type 2, we investigated a patie
nt with nonfamilial episodic vertigo and ataxia responsive to acetazol
amide for similar mutations. Single-strand conformation polymorphism (
SSCP) analysis of exon 23 identified an extra band in the patient that
was not present in other relatives or in normal controls. Exon 23 of
the patient showed a spontaneous C to T substitution at position 4410
resulting in an early stop codon. Patients with nonfamilial episodic a
taxia may respond to acetazolamide and may have mutations in CACNA1A.
(C) 1998 Wiley-Liss, Inc.