scholarly journals Adult‐onset Diamond‐Blackfan anemia with a novel mutation in the exon 5 of RPL 11: too late and too rare

2015 ◽  
Vol 3 (6) ◽  
pp. 392-395 ◽  
Author(s):  
Elena Flores Ballester ◽  
Juan José Gil‐Fernández ◽  
Miguel Vázquez Blanco ◽  
José M. Mesa ◽  
Juan Dios García ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Adult Onset ◽  
Diamond Blackfan Anemia

scholarly journals A Man with Adult-onset Progressive Spastic Paraparesis: Genetically Confirmed as Novel Mutation of ABCD1 Gene

2018 ◽  
Vol 36 (1) ◽  
pp. 31-34
Author(s):  
Byeol A Yoon ◽  
Jisun Kim ◽  
Geum Bong Lee ◽  
Jae Woo Kim ◽  
Sang-Myung Cheon
Keyword(s):  
Novel Mutation ◽  
Spastic Paraparesis ◽  
Adult Onset ◽  
Abcd1 Gene

NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor

2020 ◽  
Vol 41 (10) ◽  
pp. 2989-2991
Author(s):  
Vittorio Riso ◽  
S. Rossi ◽  
A. Perna ◽  
T. Nicoletti ◽  
L. Bosco ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Adult Onset ◽  
Dystonic Tremor

A novel mutation in the GFAP gene in a familial adult onset Alexander disease

2007 ◽  
Vol 254 (9) ◽  
pp. 1278-1280 ◽  
Author(s):  
Andrea Salmaggi ◽  
Andrea Botturi ◽  
Elena Lamperti ◽  
Marina Grisoli ◽  
Rita Fischetto ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Alexander Disease ◽  
Adult Onset

Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

2013 ◽  
Vol 260 (7) ◽  
pp. 1765-1769 ◽  
Author(s):  
Susanne T. Bot ◽  
Sascha Vermeer ◽  
Wendy Buijsman ◽  
Angelien Heister ◽  
Marsha Voorendt ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Adult Onset ◽  
Spastic Paraplegia

A Novel Mutation of Ribosomal Protein S10 Gene in a Japanese Patient With Diamond-Blackfan Anemia

2012 ◽  
Vol 34 (4) ◽  
pp. 293-295 ◽  
Author(s):  
Makoto Yazaki ◽  
Michi Kamei ◽  
Yasuhiko Ito ◽  
Yuki Konno ◽  
RuNan Wang ◽  
...  
Keyword(s):  
Ribosomal Protein ◽  
Japanese Patient ◽  
Novel Mutation ◽  
Diamond Blackfan Anemia

scholarly journals A Novel Mutation in the Adult-Onset Alexander’s Disease GFAP Gene

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Dhillon B. Zaver ◽  
Nathan T. Douthit
Keyword(s):  
Genetic Analysis ◽  
Literature Search ◽  
Novel Mutation ◽  
Adult Onset ◽  
Radiological Findings ◽  
Radiologic Findings ◽  
Alexander's Disease ◽  
The Face ◽  
Broad Variety ◽  
Caucasian Female

The case describes a 25-year-old Caucasian female diagnosed with Alexander’s disease (AxD) as an outpatient after extensive inpatient workup. Her presenting complaints included incontinence, clumsiness, seizures, dysphagia, and dysarthria. She was also found to have pancytopenia and dysautonomia. A full neurologic and hematologic workup yielded very little results, until a thorough literature search of her presenting complaints and radiologic findings pointed to adult-onset Alexander’s Disease. Alexander’s disease is a rare genetic leukodystrophy with a broad variety of presentations. Despite its infrequency in adults and the difficulty in diagnosis, the prevalence of AxD has been increasing due to ease of genetic analysis and identification of key clinical and radiological findings. This case illustrates the necessity of vigilance and persistence in the face of unusual patient presentations; occasionally, the sound of hoofbeats is zebras.

scholarly journals A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

2019 ◽  
Vol 10 ◽  
Author(s):  
Andrea Ciammola ◽  
Davide Sangalli ◽  
Jenny Sassone ◽  
Barbara Poletti ◽  
Laura Carelli ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Alexander Disease ◽  
Adult Onset
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