Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.
Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive spasticity in the lower extremities. Mutations in the atlastin GTPase 1 (ATL1) gene cause approximately 10% of autosomal dominantly inherited HSP. For many subjects with an ATL1 mutation, spastic gait begins in early childhood and does not significantly worsen, even over many years; such cases resemble spastic diplegic cerebral palsy. Herein we report a heterozygous R239C mutation in the ATL1 gene in a Korean family. The family members exhibited early onset pure spastic paraplegia and had been previously diagnosed with the diplegic form of cerebral palsy. We suggest that spastic paraplegia type 3 (SPG3A) be included in the differential diagnosis of early onset spastic paraplegia. To the best of our knowledge, this is the first report of a genetically confirmed family affected with SPG3A in Korea.
Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Min-Jung
MJ
Kwon
Seung-Tae
ST
Lee
Jong-Won
JW
Kim
Duk Hyun
DH
Sung
Chang-Seok
CS
Ki
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D019204:GTP-Binding Proteins; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult
D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins