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Author(s):  
Takeshi Hatanaka ◽  
Satoru Kakizaki ◽  
Takuya Kaburagi ◽  
Naoto Saito ◽  
Sachi Nakano ◽  
...  

Author(s):  
Yasuteru Sano ◽  
Satoko Ota ◽  
Mariko Oishi ◽  
Masaya Honda ◽  
Masatoshi Omoto ◽  
...  

Author(s):  
Kikuaki Yoshida ◽  
Ayaka Sakaki ◽  
Yoriko Matsuyama ◽  
Toshiki Mushino ◽  
Masanori Matsumoto ◽  
...  

Author(s):  
Shunichi Shirakawa ◽  
Tatufumi Murakami ◽  
Akihiro Hashiguchi ◽  
Hiroshi Takashima ◽  
Hiroshi Hasegawa ◽  
...  
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2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Keiko Shimojima Yamamoto ◽  
Tomoe Yanagishita ◽  
Hisako Yamamoto ◽  
Yusaku Miyamoto ◽  
Miho Nagata ◽  
...  

AbstractA recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The initial report of five adult patients with WASF1 variants was the only previous report regarding variants of this gene; this is the second such report, reaffirming that rare but recurrent truncating variants of WASF1 are associated with severe neurodevelopmental disorders.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Haitian Nan ◽  
Hiroshi Shiraku ◽  
Tomoko Mizuno ◽  
Yoshihisa Takiyama

Abstract Background Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, is the most common form of autosomal-dominant pure hereditary spastic paraplegias (HSP), and is rarely associated with a complicated form that includes ataxia, epilepsy, and cognitive decline. To date, the genotype-phenotype correlation has not been substantially established for SPAST mutations. Case presentation We present a Japanese patient with infantile-onset HSP and a complex form with coexisting ataxia and epilepsy. The sequencing of SPAST revealed a de novo c.1496G > A (p.R499H) mutation. A review of the literature revealed 16 additional patients with p.R499H mutations in SPAST associated with an early-onset complicated form of HSP. We found that the complicated phenotype of patients with p.Arg499His mutations could be mainly divided into three subgroups: (1) infantile-onset ascending hereditary spastic paralysis, (2) HSP with severe dystonia, and (3) HSP with cognitive impairment. Moreover, the c.1496G > A mutation in SPAST may occur as a de novo variant at noticeably high rates. Conclusion We reviewed the clinical features of the patients reported in the literature with the p.Arg499His mutation in SPAST and described the case of a Japanese patient with this mutation presenting a new complicated form. Accumulating evidence suggests a possible association between infantile-onset complicated HSP and the p.Arg499His mutation in SPAST. The findings of this study may expand the clinical spectrum of the p.Arg499His mutation in SPAST and provide an opportunity to further study the genotype-phenotype correlation of SPG4.


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