Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

2011 ◽  
Vol 26 (3) ◽  
pp. 553-556 ◽  
Author(s):  
Arianna Guidubaldi ◽  
Carla Piano ◽  
Filippo M. Santorelli ◽  
Gabriella Silvestri ◽  
Martina Petracca ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Early Onset ◽  
Spastic Paraplegia ◽  
Novel Mutations

scholarly journals Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis ofSPG4 reveals eleven novel mutations

2005 ◽  
Vol 25 (5) ◽  
pp. 506-506 ◽  
Author(s):  
Clarice Patrono ◽  
Valentina Scarano ◽  
Federica Cricchi ◽  
Mariarosa A. B. Melone ◽  
Maria Chiriaco ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
Novel Mutations

scholarly journals Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

Neurogenetics ◽  
2016 ◽  
Vol 17 (4) ◽  
pp. 265-270 ◽  
Author(s):  
Kishore R Kumar ◽  
G.M. Wali ◽  
Mahesh Kamate ◽  
Gautam Wali ◽  
André E Minoche ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Hereditary Spastic Paraplegia ◽  
Early Onset ◽  
Genetic Basis ◽  
Whole Genome ◽  
Spastic Paraplegia

Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56

2016 ◽  
Vol 20 (3) ◽  
pp. 444-448 ◽  
Author(s):  
M. Masciullo ◽  
A. Tessa ◽  
S. Perazza ◽  
F.M. Santorelli ◽  
A. Perna ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Novel Mutations ◽  
Phenotype Variability

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

2018 ◽  
Vol 63 (9) ◽  
pp. 1009-1013 ◽  
Author(s):  
Kishin Koh ◽  
◽  
Hiroyuki Ishiura ◽  
Minako Beppu ◽  
Haruo Shimazaki ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Cerebellar Ataxia ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Novel Mutations

Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia

2007 ◽  
Vol 14 (7) ◽  
pp. 809-814 ◽  
Author(s):  
A. K. Erichsen ◽  
E. Inderhaug ◽  
M. Mattingsdal ◽  
K. Eiklid ◽  
C. M. E. Tallaksen
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Novel Mutations

scholarly journals Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in theSPG4 (Spastin) gene

2003 ◽  
Vol 21 (2) ◽  
pp. 170-170 ◽  
Author(s):  
C. Proukakis ◽  
M. Auer-Grumbach ◽  
K. Wagner ◽  
P.A. Wilkinson ◽  
E. Reid ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Novel Mutations

scholarly journals A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ashraf Yahia ◽  
Zhefan Stephen Chen ◽  
Ammar E. Ahmed ◽  
Sara Emad ◽  
Rawaa Adil ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Early Onset ◽  
Late Onset ◽  
In Silico Analysis ◽  
Spinocerebellar Ataxia Type ◽  
Heterozygous Mutation ◽  
Spastic Paraplegia ◽  
Case Presentation ◽  
293 Cells ◽  
Extrapyramidal Signs

Abstract Background CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosomal recessive congenital hydrocephalus (OMIM #236600). Studies recently linked heterozygous mutations in CCDC88C to the development of the late-onset spinocerebellar ataxia type 40 (OMIM #616053). Case presentation A 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia. Exome sequencing, in-silico analysis, and Sanger sequencing identified the heterozygous NM_001080414.4:c.1993G > A (p.E665K) variant in CCDC88C as a potential cause of her illness. To explore the pathogenicity of the NM_001080414.4:c.1993G > A (p.E665K) variant, we expressed it in human embryonic kidney 293 cells and assessed its effects on apoptosis. In our experiment, NM_001080414.4:c.1993G > A (p.E665K) induced JNK hyper-phosphorylation and enhanced apoptosis. In contrast to previous reports, our patient developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement. Conclusion We, herein, heighlighted the possibility of extending the phenotype associated with variants in CCDC88C to include early-onset pure hereditary spastic paraplegia.

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