1.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*
2.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
3.Pure or Complex Hereditary Spastic Paraplegia Type 4?
Journal of Clinical Neurology 2019;15(2):265-266
No abstract available.
Spastic Paraplegia, Hereditary
4.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*
6.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
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.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
10.Deletional variant of REEP1 gene in a pedigree affected with spastic paraplegia type 31.
Gang XU ; Yan NIU ; Shujuan CHEN ; Jianbo SHU ; Liheng DANG ; Peng ZHAO ; Chunquan CAI
Chinese Journal of Medical Genetics 2019;36(6):581-583
OBJECTIVE:
To detect pathogenic variation in a pedigree affected with hereditary spastic paraplegia type 31 and explore its molecular pathogenesis.
METHODS:
Customized Roche NimbleGen capture probes were used to capture all exons of the target genes in relation with hereditary spastic paraplegia. The DNA samples were also assayed with fluorescent quantitative PCR as well as chromosomal microarray analysis using CytoScan HD chip.
RESULTS:
The proband and her father and grandfather were found to carry a deletion for position 85 992 693-86 842 693 on chromosome 2, which spanned approximately 900 kb and encompassed the REEP1 gene. The latter has been specifically associated with hereditary spastic paraplegia type 31. The same deletion was not found in her mother who is phenotypically normal.
CONCLUSION
The deletional variation of the REEP1 gene probably underlies the disease in this pedigree.
Female
;
Humans
;
Membrane Transport Proteins
;
supply & distribution
;
Paraplegia
;
Pedigree
;
Sequence Deletion
;
Spastic Paraplegia, Hereditary
;
genetics
Result Analysis
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