Erratum: Mutation Analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia
نویسندگان
چکیده
aDepartment of Neurology, Pusan National University School of Medicine, Yangsan, Korea bResearch Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea cDepartment of Neurology, Chonnam National University Hospital, Gwangju, Korea dDepartment of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea J Clin Neurol 2014;10(3):257-261 http://dx.doi.org/10.3988/jcn.2014.10.3.257 Print ISSN 1738-6586 / On-line ISSN 2005-5013 http://dx.doi.org/10.3988/jcn.2014.10.4.376 ERRATUM J Clin Neurol 2014;10(4):376-376
منابع مشابه
Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia
BACKGROUND AND PURPOSE Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders that are characterized by progressive spasticity and weakness of the lower limbs. Mutations in the spastin gene (SPAST) are the most common causes of HSP, accounting for 40-67% of autosomal dominant HSP (AD-HSP) and 12-18% of sporadic cases. Mutations in the atlastin-1 ...
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BACKGROUND Hereditary Spastic Paraplegias (HSP) are characterized by progressive spasticity and weakness of the lower limbs. At least 45 loci have been identified in families with autosomal dominant (AD), autosomal recessive (AR), or X-linked hereditary patterns. Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases. METHODS We defined the SPAST a...
متن کاملHigh frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
BACKGROUND Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease. The most frequent cause of autosomal dominant HSP is mutation of SPAST (SPG4 locus), but additional pedigrees remain mutation negative by conventional screening despite linkage to SPG4. OBJECTIVE To determine the frequency of genomic copy number aberrations of SPAST in autosomal dominant H...
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Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterized by progressive spasticity and weakness of the lower limbs. HSP genetic loci are designated SPG1-72 in order of their discovery. In 206 Japanese families with autosomal dominant HSP, SPG4 was the most common form, accounting for 38%, followed by...
متن کاملMutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.
We studied four Chinese families with pure hereditary spastic paraplegia (HSP) to investigate the clinical features and associated genetic mutations. Linkage analysis was performed for all families to map the disease locus onto autosomal chromosomes, and related loci involved in HSP on the X chromosome were also examined. Polymerase chain reaction (PCR) sequencing was used to detect gene mutati...
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