[R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis].

OBJECTIVE: Mutation screening was performed to a Chinese family with hypokalaemic periodic paraiysis(HOKPP) for locating the corresponding mutations of gene and for specifying the clinical features associated with mutations. METHODS: The cilnical features of patients from HOKPP family were summurized. Techniques of target exon PCR and direct sequencing were used to screen the mutation in CACNA1S and SCN4A genes in all numbers of the family. RESULTS: Two patients of the family showed the typical features of HOKPP: the age of disease onset is during the childhood, acetazolamide is effective to patients treated. A heterozygous point mutation 3716 (G>A) causing R1239H was found in exon 30 of CACNA1S gene of the patients, but not found in normal members of the family. CONCLUSION: The mutant R1239H in CACNA1S gene exists in Chinese patients with familial hypokalaemic periodic paralysis.

[Effectiveness of backward walking treadmill training in lower extremity function after stroke].

OBJECTIVE: To examine the effectiveness of backward walking treadmill training for restoration of motor function, balance and walking speed in patients with stroke. METHODS: Twenty-six patients with stroke, 17 males and 9 females, aged 36 - 64, with the lower extremity Brunnstrom motor recovery stage at 3 or 4, able to walk for 10 m without walking aid or orthosis, were randomly divided into two equal groups: The patients in the control group were to participate in a 60-minutes conventional training five times a week for three weeks, and the patients in the experimental group received 30-minute conventional training and then 30-minute backward walking training five times a week for three weeks. Before the training and 3 weeks after the training, Fugl-Meyer assessment was used to assess the motor function of the lower extremity (FMA-L), Berg balance scale (BBS) was used to assess the balance function, and 10 m maximum walking speed was measured. RESULTS: After the three-week training period, the FMA-L score of the experimental group was 28.0 +/- 3.3, significantly higher than that of the control group (25.5 +/- 2.3, P = 0.033); the BBS score of the experimental group was 51.4 +/- 1.8, significantly higher than that of the control group (47.3 +/- 3.7, P = 0.001, and 10 m MWS of the experimental group was 57 +/- 17, significantly higher than that of the control group (43 +/- 16, P = 0.034). CONCLUSION: A safe and feasible intervention, additional backward walking therapy helps improve the damaged motor function, balance, and walking speed of the patients with stroke.