scholarly journals Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Takenori Tozawa ◽  
Akira Nishimura ◽  
Tamaki Ueno ◽  
Akane Shikata ◽  
Yoshihiro Taura ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Hereditary Spastic Paraplegia ◽  
Visual Loss ◽  
Febrile Illness ◽  
Japanese Woman ◽  
Compound Heterozygous ◽  
Muscular Hypotonia ◽  
Spastic Paraplegia ◽  
Familial Cases ◽  
Old Japanese

AbstractMost patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants presenting as complex hereditary spastic paraplegia (HSP) with broad clinical spectra. Here, we report the case of a 20-year-old Japanese woman with complex HSP caused by compound heterozygous ACO2 variants, revealing a new phenotype of episodic visual loss during febrile illness.

scholarly journals Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family

2016 ◽  
Vol 43 (6) ◽  
pp. 833-840
Author(s):  
Xiaojie Tian ◽  
Min Wang ◽  
Kaiyuan Zhang ◽  
Xinqing Zhang
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Protein Product ◽  
Exome Capture ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Reading Frame ◽  
Physical Examinations ◽  
Compound Heterozygous Mutations

AbstractBackground: Hereditary spastic paraplegia (HSP) is a neurodegenerative disease that is characterized by progressive weakness and spasticity of the lower extremities; HSP can present as complicated forms with additional neurological signs. More than 70 disease loci have been described with different modes of inheritance. Methods: In this study, nine subjects from a Chinese family that included two individuals affected by HSP were examined through detailed clinical evaluations, physical examinations, and genetic tests. Targeted exome capture technology was used to identify gene mutations. Results: Two novel compound heterozygous mutations in the SPG 11 gene were identified, c.4001_4002insATAAC and c.4057C>G. The c.4001_4002insATAAC mutation leads to a reading frame shift during transcription, resulting in premature termination of the protein product. The missense mutation c.4057C>G (p.H1353D) is located in a highly conserved domain and is predicted to be a damaging substitution. Conclusions: Based on the results described here, we propose that these novel compound heterozygous mutations in SPG 11 are the genetic cause of autosomal recessive HSP in this Chinese family.

Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia

2016 ◽  
Vol 16 (5-6) ◽  
pp. 373-381 ◽  
Author(s):  
Matthew J. Fraidakis ◽  
Maura Brunetti ◽  
Craig Blackstone ◽  
Massimo Filippi ◽  
Adriano Chiò
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous ◽  
Spastic Paraplegia

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene

2014 ◽  
Vol 261 (9) ◽  
pp. 1825-1827 ◽  
Author(s):  
Maria Pia Giannoccaro ◽  
Rocco Liguori ◽  
Alessia Arnoldi ◽  
Vincenzo Donadio ◽  
Patrizia Avoni ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Late Onset ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Compound Heterozygous Mutations

A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin

2020 ◽  
Vol 62 (1) ◽  
Author(s):  
Colin J. Mahoney ◽  
Thanuja Dharmadasa ◽  
William Huynh ◽  
Jean‐Pierre Halpern ◽  
Steve Vucic ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Spastic Paraplegia

Compound heterozygous DARS2 mutations as a mimic of hereditary spastic paraplegia

2021 ◽  
Author(s):  
Martje G. Pauly ◽  
Yorck Hellenbroich ◽  
Kathrin Grundmann‐Hauser ◽  
Frauke Hinrichs ◽  
Katja Lohmann ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous ◽  
Spastic Paraplegia

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

2020 ◽  
Vol 721 ◽  
pp. 134800
Author(s):  
Anna Uhrova Meszarosova ◽  
Pavel Seeman ◽  
Jan Jencik ◽  
Jana Drabova ◽  
Renata Cibochova ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Spastic Paraplegia ◽  
Compound Heterozygous State
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