Novel Mutation in SLC6A19 Causing Late-Onset Seizures in Hartnup Disorder

2010 ◽  
Vol 42 (5) ◽  
pp. 369-371 ◽  
Author(s):  
Chong Kun Cheon ◽  
Beom Hee Lee ◽  
Jung Min Ko ◽  
Hyun-Ji Kim ◽  
Han-Wook Yoo
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Hartnup Disorder

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 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

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

scholarly journals Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

2018 ◽  
Vol Volume 14 ◽  
pp. 867-870 ◽  
Author(s):  
Willem Verhoeven ◽  
Jos Egger ◽  
Emmy Räkers ◽  
Arjen van Erkelens ◽  
Rolph Pfundt ◽  
...  
Keyword(s):  
Older Adult ◽  
Adult Male ◽  
Late Onset ◽  
Novel Mutation ◽  
Phenotypic Characterization

Paranoid delusion as lead symptom in two siblings with late-onset Tay–Sachs disease and a novel mutation in the HEXA gene

2015 ◽  
Vol 262 (4) ◽  
pp. 1072-1073 ◽  
Author(s):  
Claudia Stendel ◽  
Constanze Gallenmüller ◽  
Katrin Peters ◽  
Friederike Bürger ◽  
Gwendolyn Gramer ◽  
...  
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Tay Sachs Disease ◽  
Hexa Gene ◽  
Paranoid Delusion

Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein

2007 ◽  
Vol 26 (09) ◽  
pp. 232-240 ◽  
Author(s):  
S. Krause ◽  
T. Göhringer ◽  
M.C. Walter ◽  
B.G.H. Schoser ◽  
P. Reilich ◽  
...  
Keyword(s):  
Brain Imaging ◽  
Late Onset ◽  
Novel Mutation ◽  
Late Onset Dementia

A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease

1999 ◽  
Vol 263 (2-3) ◽  
pp. 129-132 ◽  
Author(s):  
M.Ilyas Kamboh ◽  
Christopher E Aston ◽  
Jordi Perez-Tur ◽  
Emre Kokmen ◽  
Robert E Ferrell ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Apolipoprotein E ◽  
Late Onset ◽  
Novel Mutation ◽  
E Gene ◽  
Apolipoprotein E Gene
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