Szu-Chia Lai
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Research Interests
Szu-Chia Lai has a total of 10 co-authors. Here are the top co-authors by number of shared publications:
- Chao-Ching Huang
Department of Pediatrics, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, 138 Sheng-Li Road, North District, Tainan, Taiwan; Department of Pediatrics, College of Medicine, Taipei Medical University, 50 Wu-Hsing Street, Taipei, Taiwan
1 shared publication - Chia-Wei Liou
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan
1 shared publication - Chin-Song Lu
Professor Lu Neurological Clinic, Taoyuan 333, Taiwan
1 shared publication - Hung-Chou Kuo
Department of Neurology, Chang Gung Memorial Hospital-Linkou Medical Center and Chang Gung University College of Medicine, Taipei 33305, Taiwan
1 shared publication - Jen-Wen Hung
Department of Rehabilitation, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Kaohsiung 83301, Taiwan
1 shared publication - Min-Yu Lan
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan
1 shared publication
Latest Publications
- Open Access
- 25 November 2014
- Published by Springer Nature in BMC Neurology
- Vol. 14 (1) , 216
High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs. SPG4, SPG3A and SPG31 are the three leading causes of autosomal dominant (AD) HSPs. A total of 20 unrelated AD-HSP families were recruited for clinical and genetic assessment. Detection of mutations in SPG4, SPG3A and SPG31 genes was conducted according to a standard protocol. Genotype-phenotype correlations and determinants for disease severity and progression were analyzed. Mutations in the SPG4 gene (SPAST) were detected in 18 (90%) of the AD-HSP families. Mutations in SPG4, SPG3A and SPG31 genes were not detected in the remaining two families. Considerable variations in clinical features were noted, even for mutation carriers from the same family. Mutations causing complete loss of the spastin AAA cassette were associated with earlier onset of disease (20 ± 18 years) compared with those with preservation of partial or total AAA cassette (32 ± 19 years, p = 0.041). For those with SPG4 mutations, disease severity was related to the patients’ current age, and the progression rate of disease was positively correlated with age at onset. SPG4 accounts for most of the AD-HSP cases in Taiwanese, with a frequency significantly higher than in other populations. SPAST mutations which predict complete loss of the spastin AAA cassette were associated with an earlier onset of disease.
- 25 November 2014
- Published by Springer Nature in BMC Neurology
- Vol. 14 (1) , 216
Open AccessHigh frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs. SPG4, SPG3A and SPG31 are the three leading causes of autosomal dominant (AD) HSPs. A total of 20 unrelated AD-HSP families were recruited for clinical and genetic assessment. Detection of mutations in SPG4, SPG3A and SPG31 genes was conducted according to a standard protocol. Genotype-phenotype correlations and determinants for disease severity and progression were analyzed. Mutations in the SPG4 gene (SPAST) were detected in 18 (90%) of the AD-HSP families. Mutations in SPG4, SPG3A and SPG31 genes were not detected in the remaining two families. Considerable variations in clinical features were noted, even for mutation carriers from the same family. Mutations causing complete loss of the spastin AAA cassette were associated with earlier onset of disease (20 ± 18 years) compared with those with preservation of partial or total AAA cassette (32 ± 19 years, p = 0.041). For those with SPG4 mutations, disease severity was related to the patients’ current age, and the progression rate of disease was positively correlated with age at onset. SPG4 accounts for most of the AD-HSP cases in Taiwanese, with a frequency significantly higher than in other populations. SPAST mutations which predict complete loss of the spastin AAA cassette were associated with an earlier onset of disease.