Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
ABSTRACT Genes for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) have been mapped to chromosome 19p13. We characterized a brain-specific P/Q-type Ca2+ channel alpha1-subunit gene, CACNL1A4, covering 300 kb with 47 exons. Sequencing of all exons and their surroundings revealed polymorphic variations, including a (CA)n-repeat (D19S1150), a (CAG)n-repeat in the 3'-UTR, and different types of deleterious mutations in FHM and EA-2. In FHM, we found four different missense mutations in conserved functional domains. One mutation has occurred on two different haplotypes in unrelated FHM families. In EA-2, we found two mutations disrupting the reading frame. Thus, FHM and EA-2 can be considered as allelic channelopathies. A similar etiology may be involved in common types of migraine.
- SourceAvailable from: currentneurobiology.com[Show abstract] [Hide abstract]
ABSTRACT: The present study examined the development of the axonal torpedoes of the cerebellar Pur-kinje cells in a Ca v 2.1 channel mutant, rolling mouse Nagoya. Calbindin D-28k immunostain-ing revealed a few torpedoes in both the cerebellar white matter and all three subdivisions of the deep cerebellar nuclei of rolling mice on postnatal day (PD) 21, while there was no differ-ence in either number among the age-matched controls. On PD 120, the number of torpedoes drastically increased in the white matter of rolling mice. Their numbers in the deep cerebel-lar nuclei also increased in rolling mice during PDs 21 to 120 with no change in their distri-butions. These results suggest that the axonal torpedoes develop progressively with aging in non-specific populations of Purkinje cells in the rolling mouse cerebellum.
- [Show abstract] [Hide abstract]
ABSTRACT: A 67-year-old female presented with post-ganglionic Horner's syndrome. In addition to the classical symptoms of Horner's syndrome, the patient reported experiencing frightening complex visual and auditory hallucinations on two different occasions. Magnetic resonance angiography of the cerebrum, neck and upper thorax revealed internal carotid dissection. The symptoms and hallucinatory experiences resolved soon after antiplatelet therapy was commenced. We propose peduncular hallucinosis as the underlying mechanism.Case reports in ophthalmology. 10/2014; 5(3):347-351.
- [Show abstract] [Hide abstract]
ABSTRACT: The present study quantitatively examined torpedoes of the Purkinje cell axons in deep ce-rebellar nuclei of rolling mouse Nagoya. Calbindin D-28 k immunostaining revealed a num-ber of torpedoes throughout all three subdivisions of deep cerebellar nuclei in rolling mice, but very few in control mice. Some torpedoes were closely apposed to large-or medium-sized neurons in deep cerebellar nuclei. Torpedoes in all three subdivisions of deep cerebel-lar nuclei were significantly denser in rolling mice than in control mice. The regional differ-ences in density were detected by a more pronounced density in the lateral than in the me-dial and intermediate nuclei. Furthermore, Ca v 2.1 immunostaining also appeared in the tor-pedoes of Purkinje cell axons, which were apposed to large-or medium-sized deep cerebellar neurons. Those results suggest that altered functions of the Ca v 2.1 channel in rolling mice are involved in the torpedoes of Purkinje cell axons in the deep cerebellar nuclei, which may be related to the animal's motor incoordination.