1.Re: Comments on “Pure or Complex Hereditary Spastic Paraplegia Type 4?”: The Authors Respond
Jiwon YANG ; Ja Young SEO ; Kwang Woo LEE ; Hyeon Mi PARK
Journal of Clinical Neurology 2019;15(2):267-267
No abstract available.
Spastic Paraplegia, Hereditary
2.Pure or Complex Hereditary Spastic Paraplegia Type 4?
Journal of Clinical Neurology 2019;15(2):265-266
No abstract available.
Spastic Paraplegia, Hereditary
3.Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia.
Jiwon YANG ; Ja Young SEO ; Kwang Woo LEE ; Hyeon Mi PARK
Journal of Clinical Neurology 2019;15(1):120-121
No abstract available.
Humans
;
Spastic Paraplegia, Hereditary*
4.Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia.
Hyung Jun PARK ; Myung Jun LEE ; Jee Eun LEE ; Kee Duk PARK ; Young Chul CHOI
Journal of Clinical Neurology 2018;14(2):248-250
No abstract available.
Humans
;
Spastic Paraplegia, Hereditary*
6.Recent advances of study on hereditary spastic paraplegia type 11.
Juan DU ; Lu SHEN ; Beisha TANG
Chinese Journal of Medical Genetics 2009;26(6):670-673
The hereditary spastic paraplegias (HSPs) are a large group of inherited, heterogeneous neurological disorders. All modes of inheritance have been reported. SPG11-associated HSP is supposed to be the most common type of complicated autosomal recessive HSP (ARHSP), especially for patients with thin corpus callosum and intelligence disorder. Here we review the mapping and cloning of the SPG11 gene, the clinical features and the supposed pathogenic mechanisms of SPG11 gene abnormalities.
Humans
;
Pedigree
;
Proteins
;
genetics
;
Spastic Paraplegia, Hereditary
;
genetics
7.Hereditary Spastic Paraplegia.
Nan Ae KIM ; Moon Ki CHO ; Chang Jun COE ; Duck Jin YUN ; Jung Ho SUH
Journal of the Korean Pediatric Society 1982;25(5):498-502
Hereditary spastic paraplegia is a familial disorder which is inherited by autosomal dominant, autosomal recessive or sex linked pattern. We experienced a family who has hereditary spastic paraplegia with mental retardation and extrapyramidal symptom that is thought inherited by autosomal dominant inheritance pattern. A review of literatures was made briefly.
Humans
;
Inheritance Patterns
;
Intellectual Disability
;
Spastic Paraplegia, Hereditary*
8.Hereditary Spastic Paraplegia.
Nan Ae KIM ; Moon Ki CHO ; Chang Jun COE ; Duck Jin YUN ; Jung Ho SUH
Journal of the Korean Pediatric Society 1982;25(5):498-502
Hereditary spastic paraplegia is a familial disorder which is inherited by autosomal dominant, autosomal recessive or sex linked pattern. We experienced a family who has hereditary spastic paraplegia with mental retardation and extrapyramidal symptom that is thought inherited by autosomal dominant inheritance pattern. A review of literatures was made briefly.
Humans
;
Inheritance Patterns
;
Intellectual Disability
;
Spastic Paraplegia, Hereditary*
9.A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
You CHEN ; Zhidong CEN ; Xiaosheng ZHENG ; Fei XIE ; Si CHEN ; Wei LUO
Journal of Clinical Neurology 2019;15(2):271-272
No abstract available.
Asian Continental Ancestry Group
;
Humans
;
Spastic Paraplegia, Hereditary
10.Identification of SPAST gene variant in a pedigree affected with hereditary spastic paraplegia type 4.
Na QI ; Mingming MA ; Ke YANG ; Guiyu LOU ; Litao QIN ; Qiaofang HOU ; Yuwei ZHANG ; Shixiu LIAO
Chinese Journal of Medical Genetics 2020;37(11):1261-1264
OBJECTIVE:
To explore the genetic basis for a pedigree affected with hereditary spastic paraplegia type 4 (HSP4).
METHODS:
Peripheral venous blood samples were taken from members of the four-generation pedigree and 50 healthy controls for the extraction of genomic DNA. Genes associated with peripheral neuropathy and hereditary spastic paraplegia were captured and subjected to targeted capture and next-generation sequencing. The results were confirmed by Sanger sequencing.
RESULTS:
DNA sequencing suggested that the proband has carried a heterozygous c.1196C>G variant in exon 9 of the SPAST gene, which can cause substitution of serine by threonine at position 399 (p.Ser399Trp) and lead to change in the protein function. The same variant was also detected in other patients from the pedigree but not among unaffected individuals or the 50 healthy controls. Based on the ACMG 2015 guidelines, the variant was predicted to be possibly pathogenic.
CONCLUSION
The c.1196C>G variant of the SPAST gene probably underlay the HSP4 in this pedigree.
Base Sequence
;
Humans
;
Mutation
;
Paraplegia/genetics*
;
Pedigree
;
Sequence Analysis, DNA
;
Spastic Paraplegia, Hereditary/genetics*
;
Spastin/genetics*
Result Analysis
Print
Save
E-mail