scholarly journals A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene

2020 ◽  
Vol 59 (20) ◽  
pp. 2587-2591
Author(s):  
Ken Takasone ◽  
Teruya Morizumi ◽  
Katsuya Nakamura ◽  
Yusuke Mochizuki ◽  
Tsuneaki Yoshinaga ◽  
...  
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Cerebrotendinous Xanthomatosis ◽  
Spinal Form ◽  
I Gene

scholarly journals Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene

2018 ◽  
Vol 57 (11) ◽  
pp. 1611-1616 ◽  
Author(s):  
Akari Sasamura ◽  
Satoru Akazawa ◽  
Ai Haraguchi ◽  
Ichiro Horie ◽  
Takao Ando ◽  
...  
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Cerebrotendinous Xanthomatosis ◽  
I Gene

Clinical and Neuroimaging Characterization of Chinese Dementia Patients with PSEN1 and PSEN2 Mutations

2014 ◽  
Vol 39 (1-2) ◽  
pp. 32-40 ◽  
Author(s):  
Zhihong Shi ◽  
Ying Wang ◽  
Shuai Liu ◽  
Mengyuan Liu ◽  
Shuling Liu ◽  
...  
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Novel Mutation ◽  
Chinese Patients ◽  
Phenotypic Traits ◽  
Chinese Han ◽  
Risk Variants ◽  
Dementia Patients ◽  
Positron Emission ◽  
Neurodegenerative Dementia

Background: Alzheimer's disease (AD) and frontotemporal dementia (FTD) are two common forms of primary neurodegenerative dementia. Mutations in 3 genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset AD. Methods: We performed gene sequencing in PSEN1, PSEN2, and APP in 61 AD and 35 FTD Chinese patients. Amyloid load using 11C-labeled Pittsburgh compound B (11C-PIB) positron emission tomography (PET) and cerebral glucose metabolism using 18F-fludeoxyglucose PET were evaluated in patients carrying mutations. Results: We identified 1 known pathogenic PSEN1 (p.His163Arg, c.488A>G) mutation and 3 novel PSEN2 mutations in 6 patients. The novel mutation PSEN2 (p.His169Asn, c.505C>A) was identified in 1 patient with familial late-onset AD and in 1 sporadic FTD patient. The PSEN2 (p.Val214Leu, c.640G>T; p.Lys82Arg, c.245A>G) mutations were identified in 2 early-onset AD patients and 1 early-onset AD patient, respectively. Three patients with PSEN2 mutations were observed to have PIB retention on the cortex and striatum. One patient with the FTD phenotype was not observed to have PIB retention. Conclusion: PSEN2 mutations are common in the Chinese Han population with a history of AD and FTD. Pathogenic mutations or risk variants in the PSEN2 gene can influence both FTD and AD phenotypic traits and show variations in neuroimaging characterization. © 2014 S. Karger AG, Basel

A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia

1999 ◽  
Vol 6 (5) ◽  
pp. 605-608 ◽  
Author(s):  
Elena D. Markova ◽  
Pyotr A. Slominsky ◽  
Sergei N. Illarioshkin ◽  
Natalya I. Miklina ◽  
Svetlana N. Popova ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase ◽  
Clinical Presentations ◽  
I Gene

Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and Bowman Layer Opacities

2020 ◽  
Vol 41 (6) ◽  
pp. 639-644
Author(s):  
Angela C. Chen ◽  
Duangratn Niruthisard ◽  
Doug D. Chung ◽  
Pichaya Chuephanich ◽  
Anthony J. Aldave
Keyword(s):  
Gene Mutation ◽  
Late Onset ◽  
I Gene

A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene

2006 ◽  
Vol 108 (8) ◽  
pp. 784-786 ◽  
Author(s):  
Hirokazu Furuya ◽  
Hiroyuki Murai ◽  
Kazuo Takasugi ◽  
Yasumasa Ohyagi ◽  
Fumi Urano ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Late Onset ◽  
Novel Mutation ◽  
Gch1 Gene ◽  
Segawa Syndrome

Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis

2012 ◽  
Vol 18 (1) ◽  
pp. 99-101 ◽  
Author(s):  
Andrea Mignarri ◽  
Mario Falcini ◽  
Alessandra Vella ◽  
Antonio Giorgio ◽  
Gian Nicola Gallus ◽  
...  
Keyword(s):  
Late Onset ◽  
Cerebrotendinous Xanthomatosis ◽  
Neurological Presentation

A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy

2007 ◽  
Vol 17 (5) ◽  
pp. 415-418 ◽  
Author(s):  
E. Maeso ◽  
A. Rueda ◽  
S. Jiménez ◽  
P. del Hoyo ◽  
R. Martín ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Late Onset ◽  
Novel Mutation

Novel mutation in a patient with late onset GLUT1 deficiency syndrome

2017 ◽  
Vol 39 (4) ◽  
pp. 352-355 ◽  
Author(s):  
Sandra Juozapaite ◽  
Ruta Praninskiene ◽  
Birute Burnyte ◽  
Laima Ambrozaityte ◽  
Birute Skerliene
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Deficiency Syndrome ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis

2020 ◽  
Vol 130 (10) ◽  
pp. 972-975
Author(s):  
Yi Tang ◽  
Yanqiu Liu ◽  
Dan Li ◽  
Dongmei Guo ◽  
Yi Xing
Keyword(s):  
Novel Mutation ◽  
Cerebrotendinous Xanthomatosis
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