Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor: clinical features, genetic analysis and treatment in a familial case / 南方医科大学学报

<p><b>OBJECTIVE</b>Mutations in CACNA1A, which encodes the P/Q-type calcium channel subunit, are responsible for at least 3 allelic diseases, namely type 2 episodic ataxia (EA-2), familial hemiplegic migraine?type-1 (FHM1), and spinocerebellar ataxia type-6?(SCA 6). Herein we present a case of ataxia with episodic tremors in a 19-year-old man with a missense mutation of CACNA1A gene and summarize the clinical features, genetic analysis and treatment in this case and in his affected family members.</p><p><b>METHODS</b>Physical examinations were conducted for the patient and his affected family members. DNA sample from the proband was analyzed with next-generation sequencing technology to identify the causative mutation. Sanger sequencing was used to confirm the gene mutation in the family members.</p><p><b>RESULTS</b>Physical examinations of the patient revealed signs of ataxia, drunken gait, and tremor of his head and body. Four other members in his family had similar but much milder symptoms. A heterozygous missense mutation in CACNA1A (NM_001127221.1 c.4034G->A, p.R1345Q, exon 25) was identified in the proband, which was confirmed in the affected family members. The proband did not respond to methazolamide treatment, but his tremor symptom was well controlled with flunarizine, a calcium channel blocker.</p><p><b>CONCLUSION</b>Based on the clinical features, mutation analysis and treatment response, we suggest that this patient with a missense CACNA1A mutation, R1345Q, has a new type of ataxia with episodic tremor other than any of EA2, FHM1, or SCA 6.</p>

Effect of Tongxinluo on the proliferation and differentiation of rat embryonic neural stem cells / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the effect of Tongxinluo in on the proliferation and differentiation of rat embryonic neural stem cells (NSCs).</p><p><b>METHODS</b>NSCs were isolated from 12- to 14-day SD rat embryo and treated with Tongxinluo at different doses, and the proliferation and differentiation of the cells were observed by immunofluorescence staining at different time points.</p><p><b>RESULTS</b>The ratio of embryonic NSCs labeled with nestin decreased soon after Tongxinluo treatment, but increased afterwards. Significant difference was noted in the number of cells labeled with beta-tubulin between Tongxinluo group and the control group 3 and 7 days after the treatment, and also between high-dose and low-dose Tongxinluo groups at 7 days.</p><p><b>CONCLUSION</b>Tongxinluo can induce the proliferation and neuronal differentiation of rat embryonic NSCs, and the effect is related to the dose of Tongxinluo administered.</p>