[ more trivia ]
Baloh and Jen, UCLA/Neurology, are SIBI collaborators. Regarding VGCC and pain.......
Headache 1997 Nov;37(10):615-621
Neurotology of migraine.
Baloh RW
Department of Neurology, UCLA School of Medicine 90095-1769, USA.
Neurotologic symptoms are common with migraine, yet relatively little is known about the pathophysiology of such symptoms.
Motion sensitivity with bouts of motion sickness occurs in about two thirds of patients with migraine. Episodes of vertigo occur
in about one fourth of patients and, in some, vertigo is the only symptom (so-called "migraine equivalent"). Phonophobia is the
most common auditory symptom, but fluctuating hearing loss and acute permanent hearing loss occur in a small percentage.
Migraine can mimic Meniere's disease and so-called "vestibular Meniere's disease" is usually associated with migraine. The
recent discovery of a mutation in a brain calcium-channel gene in families with hemiplegic migraine and in families with episodic
vertigo and ataxia suggests a possible mechanism for neurotologic symptoms in patients with more common varieties of
migraine. A defective calcium channel, primarily expressed in the brain and inner ear, could lead to reversible hair cell
depolarization and auditory and vestibular symptoms. This hypothesis is currently being investigated in other families with
migraine headaches and neurotologic symptoms. Hopefully, such studies will lead to improved diagnosis and better treatments
in the future.
Am J Med Genet 1998 May 26;77(4):298-301
De novo mutation in CACNA1A caused acetazolamide-responsive episodic
ataxia.
Yue Q, Jen JC, Thwe MM, Nelson SF, Baloh RW
Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095-1769, USA.
With the recent report of mutations in the calcium channel gene CACNA1A in two families with episodic ataxia type 2, we
investigated a patient with nonfamilial episodic vertigo and ataxia responsive to acetazolamide 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 ataxia may respond to acetazolamide and may have
mutations in CACNA1A. |
