Clinical characteristics and gene mutation analysis of hereditary spinocerebellar ataxia type 7: a study of 2 Chinese families / 中华神经医学杂志

Objective To study the clinical characteristics and gene mutation of hereditary spinocerebellar ataxia type 7 (SCA7). Methods The regions of SCA 7 gene containing CAG repeat were amplified by means of PCR and agarose gelelectrophoresis (AGE) technique in 26 patients and 37 normal family members from 5 families with autosomal dominant SCA. The abnormal allele fragments were sequenced by DNA sequencing machine. The correlation between clinical manifestations and CAG repeat size in SCA 7 gene product was analyzed. Results The patients carried 44-50 repeated CAG in the SCA7 allele of 2 SCA 7 gene families with main clinical manifestations as ataxia, hypopsia and retinal pigmental degeneration. About 10-30 repeated CAGs in the SCA7 allele were seen in other healthy members. Conclusion Expanded triplet repeats in SCA 7 gene contributes to the pathologic phenotype,and molecular genetic analysis is effective in the diagnosis and differentiation of SCA 7 gene.

Therapeutic effects and long term follow-ups in 42 cases of lipid storage myopathy / 中华神经科杂志

Objective To clarify the clinical features,therapeutic strategy and prognosis of lipid storage myopathy (LSM).Methods The clinical data and therapeutic effects of 42 LSM patients were summarized retrospectively.All patients were followed up to evaluate their prognosis.Results Data of short-term therapeutic results of all the 42 patients were available.Thirty-three cases were placed in low- doses prednisone and 9 cases in riboflavin.All patients showed marked and quick improvement of symptoms within one month.Among thirty-two patients followed up for more than one year,26 cases had a full recovery and 6 remained to have intolerance to heavy exercise.Thirteen patients had relapses of muscle weakness in various degrees and most of which were induced by exertion,exposure to coldness and upper respiratory tract infection.In 5 patients the symptoms were recurred for more than one time.Among 13 cases with relapses, 7 had family history.Conclusions Our data suggest that LSM is a treatable disease and well responsive to low-doses prednisone.The disease tends to recur,especially in patients with family history.Glutaric aciduria type Ⅱ should be considered in LSM patients who are responsive well to riboflavin,indicating drug therapeutic strategy for LSM should be based on the etiology of the disease.