- Hereditary Spastic Paraplegia
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Kim NA, Cho MK, Coe CJ, Yun DJ, Suh JH
- KMID: 1699487
- J Korean Pediatr Soc.
- 1982 May;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... -
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- Pure or Complex Hereditary Spastic Paraplegia Type 4?
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Finsterer
- KMID: 2467745
- J Clin Neurol.
- 2019 Apr;15(2):265-266.
- doi: 10.3988/jcn.2019.15.2.265
No abstract available. -
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- Progressive Dynamic Equinovarus Deformity in Hereditary Spastic Paraplegia: A Case Report
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Bae SY, Seo IS
- KMID: 2333462
- J Korean Foot Ankle Soc.
- 2004 Jun;8(1):111-113.
In neurogenic equinovarus deformity, surgical intervention such as tendon transfer or osteotomy can be expected to improve symptoms. However, in rare cases of hereditary spastic paraplegia, the deformity and paralysis... -
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- Arg460Cys Mutation in SPAST Gene in Patients with Hereditary Spastic Paraplegia
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Kim HJ, Kang CH, Oh JH, Kang SY
- KMID: 2129323
- J Korean Neurol Assoc.
- 2015 Nov;33(4):321-323.
- doi: 10.17340/jkna.2015.4.14
Hereditary spastic paraplegia is a group of genetically and clinically heterogeneous neurodegenerative disorder characterized by progressive lower extremity weakness and spasticity. A 49-year-old man presented with progressive gait disturbance. Neurological... -
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- Complex Form of Hereditary Spastic Paraplegia: Case reports
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Paik NJ, Kim CW
- KMID: 2136839
- J Korean Acad Rehabil Med.
- 1997 Oct;21(5):1017-1023.
Hereditary spastic paraplegia(HSP) is a familial disorder which is inherited by autosomal dominant, autosomal recessive or sex linked pattern. Strumpell first described a familial case of spastic paraplegia characterized by... -
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- Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene
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Yi SE, Hong YH, Kim DH, Lee JS, Kim GH, Yoo HW, Joo IS
- KMID: 1966485
- J Korean Neurol Assoc.
- 2011 Nov;29(4):365-367.
Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders that are characterized by progressive spasticity and weakness of both lower extremities. Here we report a novel missense... -
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- Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11
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Rajakulendran S, Paisan-Ruiz C, Houlden H
- KMID: 2178975
- J Clin Neurol.
- 2011 Jun;7(2):102-104.
- doi: 10.3988/jcn.2011.7.2.102
BACKGROUND: Mutations in the spatacsin gene are associated with spastic paraplegia type 11 (SPG11), which is the most-common cause of autosomal recessive hereditary spastic paraplegia. Although SPG11 has diverse phenotypes,... -
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- Re: Comments on “Pure or Complex Hereditary Spastic Paraplegia Type 4?â€: The Authors Respond
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Yang J, Seo JY, Lee KW, Park HM
- KMID: 2467746
- J Clin Neurol.
- 2019 Apr;15(2):267-267.
- doi: 10.3988/jcn.2019.15.2.267
No abstract available. -
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- Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia
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Yang J, Seo JY, Lee KW, Park HM
- KMID: 2451156
- J Clin Neurol.
- 2019 Jan;15(1):120-121.
- doi: 10.3988/jcn.2019.15.1.120
No abstract available. -
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- Dopa-responsive Dystonia Misdiagnosed as Cerebral Palsy and Hereditary Spastic Paraplegia 2 Cases: Two cases report
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Kim ES, Park HS, Yoon YK, Kim AR, Choi JH, Won YH, Cho SR
- KMID: 2326263
- J Korean Acad Rehabil Med.
- 2010 Oct;34(5):583-586.
Dystonia is a movement disorder caused by involuntary, sustained muscle contractions, frequently resulting in twitching and repetitive movements or abnormal postures. Dopa-responsive dystonia (DRD) is characterized by early childhood onset,... -
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- Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia
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Park HJ, Lee MJ, Lee JE, Park KD, Choi YC
- KMID: 2407956
- J Clin Neurol.
- 2018 Apr;14(2):248-250.
- doi: 10.3988/jcn.2018.14.2.248
No abstract available. -
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- A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
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Chen Y, Cen Z, Zheng X, Xie F, Chen S, Luo W
- KMID: 2467748
- J Clin Neurol.
- 2019 Apr;15(2):271-272.
- doi: 10.3988/jcn.2019.15.2.271
No abstract available. -
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- Distal Hereditary Motor Neuropathy Type V (dHMN-V) With N88S Mutation in BSCL2 Gene
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Chung HK, Chung KW, Park JM, Koo HS, Choi KG, Park KD, Choi BO
- KMID: 2191532
- J Korean Neurol Assoc.
- 2012 Nov;30(4):333-336.
Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene is known to be associated with different clinical phenotypes; Silver syndrome, Charcot-Marie-Tooth type 2 with a dominant hand involvement and distal hereditary motor neuropathy... -
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- Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
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Oh JY, Do HJ, Lee S, Jang JH, Cho EH, Jang DH
- KMID: 2371347
- Ann Rehabil Med.
- 2016 Dec;40(6):1129-1134.
- doi: 10.5535/arm.2016.40.6.1129
Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional... -
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- Striatal Dopaminergic Functioning in Patients with Sporadic and Hereditary Spastic Paraplegias with Parkinsonism
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Kim JS, Kim JM, Kim YK, Kim SE, Yun JY, Jeon BS
- KMID: 1777666
- J Korean Med Sci.
- 2013 Nov;28(11):1661-1666.
- doi: 10.3346/jkms.2013.28.11.1661
Sporadic spastic paraplegia (SSP) and hereditary spastic paraplegia (HSP) belong to a clinical and genetically heterogeneous group of disorders characterized by progressive spasticity and weakness in the lower extremities. The... -
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- Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration
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Yang JW, Han JY, Seong MW, Sung JJ, Park SS, Lee KW
- KMID: 1427111
- Exp Neurobiol.
- 2013 Jun;22(2):128-131.
- doi: 10.5607/en.2013.22.2.128
Autosomal dominant hereditary spastic paraplegia (AD-HSP) is due to mutations in the "spastin" gene (SPAST gene) encoding the AAA protein. The main clinical features of "pure" HSP are progressive lower-limb... -
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- Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia
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Kim TH, Lee JH, Park YE, Shin JH, Nam TS, Kim HS, Jang HJ, Semenov A, Kim SJ, Kim DS
- KMID: 2179454
- J Clin Neurol.
- 2014 Jul;10(3):257-261.
- doi: 10.3988/jcn.2014.10.3.257
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders that are characterized by progressive spasticity and weakness of the lower limbs. Mutations in the... -
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