title: Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia.
abstract: SPG3A, which is the second most common type of autosomal dominant hereditary spastic paraplegia (HSP), is caused by mutations in the atlastin GTPase 1 gene, ATL1. We report a case of a patient who presented as dysautonomia and had a novel splicing mutation c.35-3C>T in exon 2 of the ATL1. Orthostatic intolerance, urinary symptoms, hyperreflexia in the biceps and knee jerk, and decreased proprioception in both limbs were observed on neurological examinations. We tested the autonomic function and performed genetic tests for the SPG4 and SPG3A forms of HSP. This case is a genetically confirmed HSP with a novel mutation in SPG3A, and extends the phenotype of SPG3A.
authors: Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors: Jung-Won
authors: JW
authors: Shin
authors: Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors: Keun-Hwa
authors: KH
authors: Jung
authors: Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors: Soon-Tae
authors: ST
authors: Lee
authors: Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors: Jangsup
authors: J
authors: Moon
authors: Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors: Moon-Woo
authors: MW
authors: Seong
authors: Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors: Sung Sup
authors: SS
authors: Park
authors: Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors: Sang Kun
authors: SK
authors: Lee
authors: Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address: stemcell.snu@gmail.com.
authors: Kon
authors: K
authors: Chu
mesh_terms: D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D019204:GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D054969:Primary Dysautonomias / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D019204:GTP-Binding Proteins
keywords: ATL1; Dysautonomia; Hereditary spastic paraplegia