dc.contributor.author | Gurvit, Hakan | |
dc.contributor.author | Hanagasi, Hasmet A. | |
dc.contributor.author | Basak, A. Nazli | |
dc.contributor.author | Samanci, Bedia | |
dc.contributor.author | Bilgic, Basar | |
dc.contributor.author | Simsir, Gulsah | |
dc.contributor.author | Emekli, Ahmed S. | |
dc.date.accessioned | 2021-03-03T15:52:45Z | |
dc.date.available | 2021-03-03T15:52:45Z | |
dc.identifier.citation | Emekli A. S. , Samanci B., Simsir G., Hanagasi H. A. , Gurvit H., Bilgic B., Basak A. N. , "A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia", NEUROLOGICAL SCIENCES, 2020 | |
dc.identifier.issn | 1590-1874 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_413f3f02-19e6-4f7d-a4af-0e789b82899f | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/47589 | |
dc.identifier.uri | https://doi.org/10.1007/s10072-020-04869-6 | |
dc.description.abstract | Autosomal recessive cerebellar ataxias are a group of rare neurological diseases with a genetic origin. Recently, the mutations in the PNPLA6 gene were suggested to lead to ataxia and also to other specific syndromes such as Boucher-Neuhauser (ataxia, hypogonadism, and chorioretinal dystrophy) or Gordon-Holmes Syndromes (ataxia, hypogonadism, and brisk reflexes) within a broad spectrum of neurodegenerative diseases. Here we report three patients from a single-family with a novel pathogenic mutation in the PNPLA6 gene which led to predominantly spastic-ataxia, and intractable Holmes tremor. The PNPLA6-related disease should be considered in the differential diagnosis of spastic-ataxias even in the absence of chorioretinal dystrophy, and hypogonadotropic hypogonadism. Further studies should unravel the factors which account for the phenotypic variability present in patients with PNPLA6 gene mutations. | |
dc.language.iso | eng | |
dc.subject | Cellular and Molecular Neuroscience | |
dc.subject | Neurology (clinical) | |
dc.subject | Physical Sciences | |
dc.subject | Life Sciences | |
dc.subject | Cognitive Neuroscience | |
dc.subject | Health Sciences | |
dc.subject | General Neuroscience | |
dc.subject | Neuroscience (miscellaneous) | |
dc.subject | Sensory Systems | |
dc.subject | Human-Computer Interaction | |
dc.subject | KLİNİK NEUROLOJİ | |
dc.subject | Klinik Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | NEUROSCIENCES | |
dc.subject | Sinirbilim ve Davranış | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Nöroloji | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Temel Bilimler | |
dc.subject | Neurology | |
dc.subject | Developmental Neuroscience | |
dc.title | A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia | |
dc.type | Makale | |
dc.relation.journal | NEUROLOGICAL SCIENCES | |
dc.contributor.department | İstanbul Üniversitesi , , | |
dc.contributor.firstauthorID | 2369477 | |