Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan
Journal
Parkinsonism and Related Disorders
Journal Volume
87
Pages
87-91
Date Issued
2021
Author(s)
Hsu S.-L.
Chen S.-Y.
Chang Y.-Y.
Tan S.
Hong C.-T.
Tsai Y.-S.
Yu K.-W.
Wu H.-M.
Liao Y.-C.
Soong B.-W.
Hu C.-J.
Lan M.-Y.
Lee Y.-C.
Abstract
Aim: To investigate the clinical and genetic features of hereditary spastic paraplegia (HSP) type 3A (SPG3A) in Taiwan. Methods: Mutational analysis of the ATL1 gene was performed for 274 unrelated Taiwanese HSP patients. The diagnosis of SPG3A was ascert
Subjects
ATL1; Atlastin-1; Hereditary spastic paraplegia; HSP; SPG3A
SDGs
Other Subjects
adolescent; adult; aged; allele; Article; atlastin 1 gene; brain; child; clinical evaluation; clinical feature; cohort analysis; disability; disease severity; electrophysiology; female; founder effect; functional status assessment; gene; gene frequency; g
Type
journal article