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

An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene

2011 ◽  
Vol 122 (6) ◽  
pp. 775-781 ◽  
Author(s):  
Satoshi O. Suzuki ◽  
Toru Iwaki ◽  
Kenji Arakawa ◽  
Hirokazu Furuya ◽  
Naoki Fujii ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Novel Mutation ◽  
Proteolipid Protein ◽  
Adult Onset ◽  
Autopsy Case ◽  
Spastic Paraplegia

Adult onset Alexander disease presenting with progressive spastic paraplegia

2014 ◽  
Vol 20 (2) ◽  
pp. 241-242 ◽  
Author(s):  
José Luiz Pedroso ◽  
Salmo Raskin ◽  
Orlando Graziani Povoas Barsottini ◽  
Acary S.B. Oliveira
Keyword(s):  
Alexander Disease ◽  
Adult Onset ◽  
Spastic Paraplegia

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

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot inATL1Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

2013 ◽  
Vol 34 (6) ◽  
pp. 860-863 ◽  
Author(s):  
Rita-Eva Varga ◽  
Rebecca Schüle ◽  
Hicham Fadel ◽  
Irene Valenzuela ◽  
Fiorella Speziani ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Autosomal Dominant Inheritance ◽  
Spastic Paraplegia ◽  
Dominant Inheritance

scholarly journals MTHFR mutation- A rare potentially treatable cause of adult-onset complicated hereditary spastic paraplegia

2019 ◽  
Vol 405 ◽  
pp. 325
Author(s):  
F.M.A. Khan ◽  
D. Dave ◽  
S. Rohatgi ◽  
S. Nirhale ◽  
P. Rao ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Adult Onset ◽  
Spastic Paraplegia ◽  
Mthfr Mutation

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

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
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